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Epigenetics

 

412T   Quality control and data normalisation in large Illumina Infinium HumanMethylation450 datasets. A. Drong, B. Lehne, M. Loh, C. Blancher, M.-R. Jarvelin, C. M. Lindgren, P. Elliott, M. I. McCarthy, J. S. Kooner, J. C. Chambers.

413F   Integrating genotype, methylome, chromatin states and disease state in a cohort of 750 individuals. M. L. Eaton, G. Srivastava, A. Kundaje, L. B. Chibnik, B. T. Keenan, J. Ernst, D. Bennett, B. Bernstein, P. DeJager, M. Kellis.

414T   Epigenome-wide DNA methylation study reveals hypermethylated collagen genes and suggests a role for TGFβ in osteoarthritis. M. A. Jeffries, J. A. James, A. H. Sawalha.

415F   Genome-wide profiling of DNA from blood reveals regions differently methylated in osteoarthritis patients. G. Zhai, E. Aref Eshghi, H. Zhang, G. Martin, A. Furey, R. Green, G. Sun, P. Rahman.

416T   Diurnal rhythms of clock gene DNA methylation and their relationship to rhythms of clock gene expression in the human cerebral cortex. A. S. Lim, G. P. Srivastava, L. Yu, A. S. Buchman, J. A. Schneider, A. J. Myers, D. A. Bennett, P. L. De Jager.

417F   DNA methylation analysis of human neuronal and non-neuronal cells at the base pair resolution. J. Ueda, M. Bundo, F. Sunaga, M. Nishioka, E. Hashimoto, W. Ukai, T. Saito, K. Kasai, K. Iwamoto, T. Kato.

418T   Methylation of leukocyte DNA and ovarian cancer: Relationship with disease status and outcome. B. Fridley, S. Armasu, M. Cicek, K. Kalli, M. Larson, D. Koestler, D. Rider, V. Shridhar, J. Olson, J. Cunningham, E. Goode.

419F   The combination of genome wide screening and DNA methylation in the determination of bio-marker discovery in ovarian and breast cancer. M. Poulin, A. Meyer, L. Yan.

420T   Independent contribution of epigenetic modifications within lipoprotein metabolism genes to plasma lipid profile variability. S. P. Guay, D. Brisson, B. Lamarche, D. Gaudet, L. Bouchard.

421F   Abberant CpG island methylation of caspase-3 gene in uterine leiomyomas. S. Vaidya, K. Prabhakar Rao, Q. Hasan, N. A. Shaik.

422T   DNA methylation profiling of preeclamptic placentas reveals distinct subgroups. S. L. Wilson, J. D. Blair, C. W. Hanna, P. von Dadelszen, S. Langlois, D. E. McFadden, W. P. Robinson.

423F   Matrix modulates DNA methylation in human bladder smooth muscle cells. K. J. Aitken, J. X. Jiang, C. Sotiropolous, S. Pu, T. Kirwan, D. J. Bagli.

424T   Dose-dependent effect of in utero smoking on DNA methylation among Latino children in a methylome-wide association study. S. S. Oh, D. Hu, C. R. Gignoux, J. M. Galanter, S. Huntsman, D. Torgerson, C. Eng, L. A. Roth, A. Davis, H. J. Farber, P. C. Avila, E. Brigino-Buenaventura, M. A. LeNoir, K. Meade, D. Serebrisky, L. N. Borrell, W. Rodríguez-Cintrón, R. Kumar, J. R. Rodríguez-Santana, F. Lurmann, E. Burchard.

425F   DNA methylation profiling implicates several genes in type 2 diabetes. M. A. Carless, H. Kulkarni, M. C. Mahaney, H. H. H. Goring, L. Almasy, A. G. Comuzzie, J. Blangero.

426T   Methylation analysis of CpG islands in the TYR and P genes: Correlation with gene expression. X. Wang, L. Dsouza, H. He, C. Aantolik, Q. Zhang.

427F   The role of brain DNA methylation in the pathology of Alzheimer’s disease: Evidence of an interaction effect. P. L. De Jager, G. Srivastava, M. L. Eaton, L. Yu, A. Meissner, J. A. Schneider, M. Kellis, D. A. Bennett, L. B. Chibnik.

428T   Array-based assay detects genome-wide 5-methylcytosine and 5-hydroxymethlycytosine in non-human primates and mice. R. S. Alisch, P. Chopra, L. A. Papale, A. T. J. White, A. Hatch, P. H. Roseboom, M. Brown, S. T. Warren.

429F   Airborne particulate matter exposure modifies the canonical MAP-kinase pathway: From methylomic analysis to biological implications. J. J. Carmona, T. Sofer, L. Cantone, B. Coull, A. Maity, J. Schwartz, X. Lin, A. Baccarelli.

430T   Epigenomic fetal programming: identifying genomic sites differentially methylated after exposure to maternal gestational diabetes and responsive to its treatment. A. A. Houde, S. M. Ruchat, C. Allard, P. Perron, J. P. Baillargeon, J. St-Pierre, D. Gaudet, D. Brisson, M. F. Hivert, L. Bouchard.

431F   Convergence of genetic, epigenetic and environmental factors on CpG-SNPs associated with human disorders: implications for transcriptional regulation in human brain. D. R. Sarkisyan, I. Bazov, M. M. H. Taqi, H. Watanabe, O. Kononenko, V. Tashbulatov, T. Yakovleva, G. Bakalkin.

432T   Methylation analysis in tongue tissue of BWS patients identifies the (epi)genetic cause in 3 patients with normal methylation levels of H19 and KCNQ1OT1 in blood. M. Alders, S. M. Maas, D. M. Kadouch, K. van der Lip, H. J. Bliek, C. M. A. M. van der Horst, M. M. A. M. Mannens.

433F   An integrated epigenomic-transcriptomic-genetic analysis of schizophrenia brain identifies novel molecular pathways to disease. J. Mill, R. Pidsley, J. Viana, A. Jeffries, C. Wong, C. Troakes, L. Schalkwyk.

434T   Whole genome bisulfite sequencing of cell free DNA and its cellular contributors links placenta hypomethylated domains to gene deserts. T. Jensen, S. Kim, C. Chin, Z. Zhu, T. Lu, C. Deciu, D. van den Boom, M. Ehrich.

435F   DNA methylation at CPT1A is associated with triglyceride levels, BMI and WHR. D. M. Absher, M. R. Irvin, S. Aslibekyan, J. Sha, L. L. Waite, D. Zhi, K. Stanton Thibeault, J. Ordovas, D. K. Arnett.

436T   DNA methylation profiling is robust in different tissue types and reveals distinct patterns across rheumatoid arthritis samples and phenotypes. L. F. Barcellos, X. Shao, E. Elboudwarej, A. Baker, E. Sinclair, L. A. Criswell.

437F   Gene networks for social cognition in Williams syndrome. L. Dai, R. Weiss, J. R. Korenberg.

438T   Identification of CpG-SNPs associated with osteoporosis. H. Shen, C. Qiu, L. Zhang, C. Xu, H. W. Deng.

439F   DNA methylation in six cell and tissue types in Sjögren’s syndrome reveals distinct patterns across samples and clustering based on disease status. A. S. Baker, D. Quach, H. Quach, E. Elboudwarej, L. F. Barcellos, L. A. Criswell.

440T   Epigenetics in cow’s milk allergy: A Dutch epidemic. P. Henneman, N. C. M. Petrus, A. Venema, M. M. A. M. Mannens, A. B. Sprikkelman.

441F   Epigenetic dysregulation of ectodermal cells in autism spectrum disorder. E. R. Berko, M. Suzuki, F. Beren, C. Lemetre, C. Alaimo, R. B. Calder, K. Ballaban-GIl, B. Gounder, K. Kampf, J. Kirschen, S. B. Maqbool, Z. Momin, D. M. Reynolds, N. Russo, L. Shulman, E. Stasiek, J. Tozour, M. Valicenti-McDermott, S. Wang, B. S. Abrahams, J. Hargitai, D. Inbar, Z. Zhang, J. D. Buxbaum, S. Molholm, J. J. Foxe, R. W. Marion, A. Auton, J. M. Greally.

442T   Epigenetic and ecogenetic silencing of the FMR gene unrelated to CGG TNR expansion. J. Kapalanga, Y. Said, D. Wong, A. Gandy, M. Moyo, N. Nkiru, A. Singh.

443F   Multiple methylation errors at imprinting control regions in patients with S-adenosylhomocysteine hydrolase deficiency. U. Zechner, A. Fitzner, J. Knežević, M. Polović, N. El Hajj, E. Schneider, R. Belužić, S. H. Mudd, T. Haaf, O. Vugrek.

444T   DNA differential methylation is observed at BRCA1 promoter but not in 8q24.21 in cleft lip and palate. L. Alvizi, G. S. Kobayashi, C. B. F. Silva, D. Y. Sunaga, D. F. Bueno, M. R. S. Passos-Bueno.

445F   Widespread changes in DNA methylation at CpG island shores and distal regulatory regions in response to a bacterial infection. L. B. Barreiro, A. Pacis, L. Tailleaux, V. Yotova, J. C. Grenier, R. Pique-Regi, K. D. Hansen, Y. Gilad.

446T   Acceleration of age-associated methylation patterns in peripheral blood of HIV-1-infected adults. R. M. Baxter, T. M. Rickabaugh, M. Sehl, J. S. Sinsheimer, O. Martinez-Masa, S. Horvath, E. Vilain, B. D. Jamison.

447F   Methylation QTLs often show opposite allelic directions when comparing different tissues. M. J. Bonder, S. Kasela, K. Kirotar, M. Kals, M. Ivanov, A. Metspalu, M. Ingelman-Sundberg, C. Wijmenga, A. Zhernakova, L. Milani, L. Franke.

448T   Predicting prostate cancer progression through gene network analysis of methylation data. L. Briollais, K. Kron, B. Bapat, H. Ozcelik.

449F   A pilot study testing DNA methylation profiles in Samoan obese and lean young adult males. O. D. Buhule, N. L. Hawley, M. Medvedovic, R. L. Minster, G. Sun, H. Cheng, S. Viali, R. Deka, D. E. Weeks, S. T. McGarvey.

450T   DNA methylation alterations in CHARGE patients with heterozygous CHD7 mutations. D. T. Butcher, D. Grafodatskaya, D. W. X. Wei, W. Reardon, B. Gilbert-Dussardier, A. Verloes, F. Bilan, B. Papsin, R. Badilla-Porras, R. Mendoza-Londono, R. Weksberg.

451F   Contribution of DNA methylation to gene expression varies by tissue and age. C. Chen, C. Zhang, L. Cheng, J. Badner, E. Gershon, J. Sweeney, J. Reilly, J. Bishop, C. Liu.

452T   Effective adjustment of differential cell populations in epigenome-wide association studies. J. Chen, J. Huang, L. Liang, X. Lin.

453F   A specific DNA methylation signature associated with NSD1+/- mutations in Sotos syndrome reveals a significant genome-wide loss of DNA methylation targeting CGs in regulatory regions of key developmental genes. S. Choufani, C. Cytrynbaum, A. L. Turinsky, Y. A. Chen, D. Grafodatskaya, J. Xiang, M. Feigenberg, B. Y. H. Chung, D. J. Stavropoulos, R. Mendoza-Londono, D. Chitayat, W. T. Gibson, M. Reardon, M. Brudno, R. Weksberg.

454T   Comparison of methylation profiles in human blood and lung tissue identifies tissue-specific CpG methylation sites. D. Daley, K. Ushey, L. Akhabir, A. Saferali, S. M. Mah, A. Sandford, M. S. Kobor, P. Parč.

455F   Hippocampal gene expression, miRNA expression and DNA methylation changes in a mouse model of fetal alcohol spectrum disorder. E. J. Diehl, B. I. Laufer, S. M. Singh.

456T   Genome-wide DNA methylation profiles in fruit flies and the effect of huntingtin knockout. S. Erdin, K. Dietz, A. Ragavendran, M. E. Talkowski, J. A. Walker, J. F. Gusella.

457F   A novel method for identification and quantification of consistently differentially methylated genomic regions. C. Fann, C. L. Hsiao, C. J. Chang.

458T   Epigenetic changes in relation to asbestos exposure in malignant pleural mesothelioma. G. Fiorito, S. Guarrera, E. Casalone, M. Betti, E. Aldieri, D. Ferrante, C. Di Gaetano, F. Rosa, A. Russo, S. Tunesi, M. Padoan, A. Aspesi, C. Casadio, F. Ardissone, E. Ruffini, P. G. Betta, R. Libener, R. Guaschino, E. Piccolini, D. Mirabelli, C. Magnani, I. Dianzani, G. Matullo.

459F   Genetic ancestry explains differences in global and local methylation patterns in the GALA II study. J. M. Galanter, C. R. Gignoux, S. S. Oh, D. G. Torgerson, C. Eng, S. Huntsman, L. Roth, D. Hu, S. Sen, M. Pino-Yanes, E. Nguyen, P. Avila, H. J. Farber, A. Davis, E. Birgino-Buenaventura, M. A. Lenoir, K. Meade, D. Serebrisky, S. Thyne, W. Rodriguez-Cintrón, R. Kumar, J. R. Rodriguez-Santana, E. G. Burchard.

460T   A fast and simple method for whole genome bisulfite sequencing library preparation from ultra-low DNA input: Pico-MethylSeq library preparation kit. K. Giang, T. Chung, X. Sun, X. Jia.

461F   Evaluation of Illumina 450K methylation chip using technical replicates. W. Guan, M. Bose, J. S. Pankow, E. W. Demerath, J. Bressler, M. Fornage, M. Grove, T. Mosley, C. Hicks, K. North, E. Boerwinkle.

462T   Edematous severe childhood malnutrition is associated with wide-spread DNA hypomethylation. N. A. Hanchard, S. Howell, K. Marshall, X. Wang, T. E. Forrester, M. E. Reid, J. W. Belmont, C. A. McKenzie.

463F   Epigenetic alterations and an increased frequency of micronuclei in women with fibromyalgia. C. Jackson-Cook, V. Menzies, K. J. Archer, J. Brumelle, K. H. Jones, Q. Zhou, G. Gao, T. P. York, D. E. Lyon.

464T   Epigenome-wide methylation patterns across multiple fetal tissues. A. C. Just, A. A. Baccarelli, R. J. Wright, H. H. Burris, G. Estrada, L. Schnaas, R. O. Wright.

465F   Mapping the DNA unmethylome with mTAG, a novel method to investigate the epigenome. V. Labrie, E. Kriukienė, T. Khare, G. Urbanavičiūtė, A. Lapinaitė, K. Koncevičius, D. Li, T. Wang, S. Pai, C. Ptak, J. Gordevičius, S. C. Wang, A. Petronis, S. Klimašauskas.

466T   Functional data analysis for identifying differentially methylated regions. M. LeBlanc, C. Page, A. Frigessi, B. Kulle Andreassen.

467F   DNA methylation analysis of iPS cells using whole-genome bisulphite sequencing. D. Lee, J. Shin, P. Tonge, M. Puri, A. Nagy, J. Seo.

468T   Correlation and null hypothesis in epigenome-wide association studies. B. Lehne, A. Drong, M. Loh, W. Zhang, W. Scott, M. R. Jarvelin, P. Elliott, M. I. McCarthy, J. S. Kooner, J. C. Chambers.

469F   Importance of batch and white blood cell subtypes correction in analysis of Illumina Infinium 450K methylation arrays. M. Loh, B. Lehne, A. Drong, W. Scott, W. Zhang, M.-R. Jarvelin, P. Elliott, M. I. McCarthy, J. S. Kooner, J. C. Chambers.

470T   The effects of a therapeutic equivalent dose of olanzapine on genome-wide DNA methylation in hippocampus and cerebellum, in a rat model in vivo. M. G. Melka, B. I. Laufer, P. McDonald, C. A. Castellani, N. Rajakumar, R. O'Reilly, S. M. Singh.

471F   Astrocytic abnormalities and global DNA methylation patterns in depression and suicide. C. Nagy, M. Suderman, M. Szyf, N. Mechawar, C. Ernst, G. Turecki.

472T   The effects of perinatal testosterone exposure on DNA methylation in the brain are late-emerging and dynamic. T. C. Ngun, N. M. Ghahramani, P. Y. Chen, S. Krishnan, S. Muir, T. TeSlaa, L. Rubbi, A. P. Arnold, G. J. de Vries, N. G. Forger, M. Pelligrini, E. Vilain.

473F   Genome-wide DNA methylation network analysis for osteoporosis risk. C. Qiu, H. Shen, J. Li, H. W. Deng.

474T   Genome-wide placental DNA methylation analysis of severely growth-discordant monozygotic monochorionic twins reveals a novel epigenetic signature for IUGR. M. Roifman, S. Choufani, S. Drewlo, S. Keating, J. Kingdom, R. Weksberg.

475F   Genetics of global DNA methylation patterns in multiple tissues from twins. J. K. Sandling, E. Grundberg, E. Meduri, A. K. Hedman, S. Keildson, J. Nisbet, A. Barrett, K. S. Small, B. Ge, E. T. Dermitzakis, M. I. McCarthy, T. D. Spector, J. T. Bell, P. Deloukas, MuTHER Consortium.

476T   The highs and lows (of methylation) in the placental epigenome. V. Shridhar, P. Shaw, K. Bunce, T. Chu, D. Peters.

477F   Whole-genome bisulfite sequencing: A novel “post-bisulfite conversion” library construction method from low gDNA inputs. R. Sooknanan, J. Hitchen, D. Gabel, V. Ruotti.

478T   A novel sequencing method for genome-wide profiling of 5-hydroxymethylcytosine with single-base resolution. D. Tan, H. Chung, X. Sun, X. Jia.

479F   The role of DNA methylation in B°AT1 transcriptional regulation along crypt-villus axis. E. Tumer, T. Juelich, S. Broer.

480T   Epigenome-wide differences in DNA methylation of autosomes in Klinefelter’s syndrome. E. S. Wan, W. Qiu, J. Morrow, T. H. Beatty, J. Hetmanski, E. K. Silverman, D. L. DeMeo, on behalf of COPDGene Investigators.

481F   Ascorbate is a possible cofactor for Tet proteins to hydroxylate 5mC to 5hmC. G. Wang, E. Minor, K. Dickson, C. Gustafson, B. Court, J. Young.

482T   A new target enrichment system generating ultra-high complexity probe pools for targeted bisulfite sequencing. J. Wendt, M. Suzuki, T. Richmond, N. Patterson, T. Millard, D. Green, R. Bannen, R. Selzer, T. Albert, J. Jeddeloh, J. Greally, D. Burgess.

483F   Epigenome-wide association study of autism spectrum disorder using postmortem brain tissue. C. C. Y. Wong, D. H. Geschwind, N. Parikshak, C. Troakes, J. Viana, D. Condliffe, T. G. Belgard, S. Prabhakar, J. Mill.

484T   Racial and ethnic variation in DNA methylation of human peripheral blood. Y. Yang, R. Sebra, Y. Li, J. F. DeCoteau, I. Peter, S. A. Scott.

485F   Gene-based association analysis of brain DNA methylation with Alzheimer’s disease pathology using random permutation. L. Yu, G. Srivastava, L. Chibnik, M. Eaton, S. Leurgans, A. Meissner, P. L. De Jager, D. A. Bennett.

486T   Downregulated microRNA-199a-3p induces aberrant DNA methylation in testicular cancer by directly targeting DNMT3A. B. Chen, S. Gu, Y. K. Suen, L. Li, W. Y. Chan.

487F   The utility of DNA extracted from saliva for methylation studies of psychiatric traits. A. K. Smith, V. Kilaru, T. Klengel, K. B. Mercer, K. N. Conneely, K. J. Ressler, E. B. Binder.

488T   Rapid DNA methylation analysis of the FXN gene in Friedreich ataxia cells and tissues. S. Al-Mahdawi, C. Sandi, M. A. Pook.

489F   Systematic classification of common disease-associated regulatory DNA variations by their epigenomic relationship. M. Dozmorov, C. Giles, J. Wren.

490T   Integrated epigenetic analysis of APOBEC gene family in breast cancer. Y. Zhang, R. Delahanty, W. Zheng, J. Long.

491F   Role of CTCF in epigenetic regulation of 4qD4Z4 macrosatellite repeat. J. Lim, J. M. Moore, N. A. Rabaia, Y. D. Krom, S. J. Tapscott, S. M. van der Maarel, G. N. Filippova.

492T   Subtelomeric deletions exert telomere position effects on nearby genes. J. Gerfen, H. M. Mason-Suares, M. K. Rudd.

493F   Chromatin state characterization of GWAS results of different neuropsychiatric traits is suggestive of brain-specific as well as non-neuronal origins of disease. R. A. Ophoff, J. Ernst.

494T   Histone H2A variants: One family, different roles in the human genome. M. Y. Tolstorukov, J. A. Goldman, C. Gilbert, V. Ogryzko, N. Volfovsky, R. M. Stephens, R. E. Kingston, P. J. Park.

495F   Spread of repressive chromatin from the expanded GAA trinucleotide repeat mutation contributes to gene silencing in Friedreich ataxia. Y. K. Chutake, S. I. Bidichandani.

496T   Complex molecular findings in 11p15-associated imprinting disorders require a broadening of testing strategies. M. Begemann, S. Spengler, L. Soellner, T. Eggermann.

497F   Allelespecific analysis of putative imprinted gene network members in human. D. Prawitt, F. Bohne, D. Langer, U. Martiné, K. Oexle, B. U. Zabel, T. Enklaar.

498T   The allelic expression of Gnas is affected by mutations in Mecp2 and maternal strain. H. Stitik, R. D. O'Connor, A. Kumar, N. C. Schanen.

499F   Exploring the role of NLRP7 in reprogramming of CpG methylation in the oocyte and early embryo. S. Mahadevan, S. Wen, Y. Wooi, Z. Liu, M. Kyba, B. Sadikovic, I. Van den Veyver.

500T   Epigenetic effects of the endocrine disruptor phthalate: Influence of the genetic background. A. Paoloni-Giacobino, C. Stouder, E. Somm.

501F   Establishing induced pluripotent stem cell-derived neurons as an appropriate cellular model for studying mechanisms of myoclonus-dystonia. K. Freimann, A. Westenberger, P. Seibler, A. Weissbach, N. Brueggemann, K. Lohmann, C. Klein, A. Gruenewald.

502T   Full resolution DNA methylome analysis in multiple tissues from twins. S. Busche, M. Caron, T. Kwan, V. Forgettta, B. Ge, S. Westfall, J. Qi, M.-M. Simon, J. T. Bell, MuTHER Consortium, UK10K Consortium, J. B. Richards, G. Bourque, M. Lathrop, P. Deloukas, T. D. Spector, T. Pastinen, E. Grundberg.

503F   Epigenome-wide association study on identical twins discordant for birth weight. Q. Tan, M. Frost, L. Christiansen.

504T   Identification of a differentially methylated locus in monozygotic twins discordant for esophageal atresia. L. Boutaud de la Combe, A. Pelet, C. Bole, J. Tost, W. Carpentier, N. Cagnard, R. Smigiel, V. Rousseau, F. Gaudrin, J. Amiel, S. Lyonnet.

505F   An epigenome-wide association study using monozygotic twins identifies putative loci associated with osteoporotic phenotypes. V. Forgetta, W. Kirsten, P. Deloukas, T. Spector, J. Bell, J. B. Richards.

506T   Analysis of the epigenetic interplay between DNA methylation, histone modifications and gene expression in monozygotic twins discordant for psoriasis identified dysregulated disease-associated genes. R. Lyle, K. Gervin, G. D. Gilfillan, M. Hammerř, H. S. Hjorthaug, A. O. Olsen, T. Hughes, J. R. Harris, D. E. Undlien.

507F   Genome wide DNA methylation profiling of monozygotic twins discordant for trisomy 21. M. R. Sailani, F. Santoni, A. Letourneau, P. Makrythanasis, C. Borel, M. Guipponi, C. Gehrig, A. Vannier, S. E. Antonarakis.

508T   DNA methylation analysis of the human X chromosome in multiple tissues. A. Cotton, M. Jones, C. Chen, W. Wasserman, M. Kobor, C. Brown.

509F   Toward understanding the higher-order chromatin organization at the human inactive X chromosome. E. Darrow, B. Chadwick.

510T   The p.V37I exclusive genotype of GJB2: A genetic risk-indicator of postnatal permanent childhood hearing impairment. L. Li, J. Lu, Z. Tao, Q. Huang, Y. Chai, X. Li, Z. Huang, Y. Li, M. Xiang, J. Yang, G. Yao, Y. Wang, T. Yang, H. Wu.

511F   Up-regulates of angiogenesis-associated microRNAs in placenta from women with a low flow-mediated vasodilation. L. M. Rodriguez, A. F. Duque, A. Sanchez, A. C. Aguilar, A. Castillo.


Genome Structure, Variation and Function

 

512W   ChIP-seq ascertained occupancy of MEF2C, a GWAS-implicated osteoporosis locus, points to an inflammation-mediated role in bone density determination. S. F. A. Grant, S. Deliard, F. Zhu, Q. Xia, A. D. Wells, K. D. Hankenson, M. E. Johnson.

513T   Enhancer activity patterns across 100 epigenomes reveal novel human disease associations. W. Meuleman, L. D. Ward, A. Kundaje, M. Kellis, Roadmap Epigenomics Program.

514F   Human-specific cytogenetic structures support the emergence of new regulatory elements. G. Giannuzzi, A. Reymond.

515W   Architectural proteins modulate the higher order chromatin structure of the CFTR locus. N. Gosalia, A. Harris.

516T   Impact of three-dimensional organization of chromatin on long-range enhancers. A. Pankov, J. Song.

517F   Genetic determinants of population-level variation of chromatin modifications. H. Kilpinen, S. M. Waszak, A. R. Gschwind, S. K. Raghav, R. M. Witwicki, A. Orioli, M. Wiederkehr, N. Panousis, N. Hernandez, A. Reymond, B. Deplancke, E. T. Dermitzakis.

518W   Molecular analyses of cis-interactions of the SOX9 promoter with its sex determining long-range regulators using chromatin conformation capture-on-chip (4C). P. Stankiewicz, M. Smyk, P. Szafranski.

519T   Identification of genetic variants that affect histone modifications in human cells. G. McVicker, B. van de Geijn, J. F. Degner, C. E. Cain, N. E. Banovich, N. Lewellen, M. Myrthil, Y. Gilad, J. K. Pritchard.

520F   Lethal lung developmental disorder due to a novel deep intronic deletion. P. Szafranski, Y. Yang, M. U. Nelson, M. J. Bizzarro, R. Morotti, C. Langston, P. Stankiewicz.

521W   Rare recurrent homozygous deletions in a large population reveals high penetrance loss of function variants underlying rare strong phenotypes. J. Glessner, J. Li, B. Chang, K. Thomas, R. Golhar, X. Chang, Y. Guo, D. Li, N. Abdel-Magid, C. Kao, Y. Li, J. Bradfield, C. Kim, C. Hou, F. Mentch, H. Qiu, C. Cardinale, M. Garris, L. Vazquez, D. Abrams, G. Otieno, T. Wang, R. Pellegrino da Silva, R. Chiavacci, J. Connolly, B. Keating, P. Sleiman, S. Grant, H. Hakonarson.

522T   Identification of copy number variants using computational algorithms and array CGH technologies. P. S. Samarakoon, H. S. Sorte, B. E. Kristiansen, T. Skodje, A. Stray-Pedersen, O. K. Rodningen, R. Lyle.

523F   Genomic characterization and copy number analysis of human induced pluripotent stem cells from 22q11.2 deletion syndrome patients. C. Purmann, S. Pasca, H. Gai, A. Krawisz, X. Zhu, J. Rapoport, J. Berstein, J. Hallmayer, R. Dolmetsch, A. E. Urban.

524W   Common CNVs of innate immune response genes defensin DEFA1/A3 and complement C4A are medium effect-size risk factors for human autism spectrum disorders. H. Wang, K. Linter, E. Hansen, B. Zhou, Y. L. Wu, K. Jones, A. Schwaderer, D. Hains, C. Y. Yu, G. Herman.

525T   TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. S. R. Lalani, W. Wiszniewski, J. V. Hunter, N. A. Hanchard, J. R. Willer, C. Shaw, S. W. Cheung, A. Patel, P. Hixson, C. A. Bacino, L. Potocki, R. L. P. Santos-Cortez, P. I. Bader, T. M. Morgan, S. A. Boyadjiev, T. E. Gallagher, A. Mutirangura, P. Stankiewicz, A. L. Beaudet, M. Maletic-Savatic, J. A. Rosenfeld, L. G. Shaffer, E. E. Davis, J. W. Belmont, C. C. Khor, S. Dunstan, P. E. Bonnen, S. M. Leal, N. Katsanis, J. R. Lupski.

526F   The use of MLPA-based strategy for discrete copy number genotyping of complex multi-allelic CNVs. P. Kozlowski, M. Marcinkowska-Swojak.

527W   Co-evolutionary relationship between chemokines and chemokine receptor: An evolutionary perspective. C. Tsui, Y. Hung, D. Liu, D. Chen.

528T   High-resolution analysis of DNA copy number variations in systemic lupus erythematosus patients. F. B. Barbosa, M. Simioni, E. A. Donadi, V. L. Gil-da-Silva-Lopes, A. L. Simőes.

529F   Duplication-normal-duplication rearrangements in human genomic disorders. C. R. Beck, P. Liu, J. R. Lupski.

530W   High resolution copy number variation analysis using droplet digital PCR. J. Berman, J. Regan, N. Heredia, D. Skvortsov, N. Klitgord, S. Tzonev, E. Hefner.

531T   Accurate measurement of C4 gene copy number variation by chip-based digital PCR. C. Chen, D. Do, K. Li, D. Keys.

532F   Copy number variants associated with the risk of systemic lupus erythematosus: Design a lupus risk prediction system. Y. Chung, S. Jung, J. Kim, S. Yim.

533W   Genome-wide CNV association study of primary caries. K. T. Cuenco, M. Lee, X. Zheng, E. Feingold, D. E. Weeks, R. J. Weyant, R. J. Crout, D. W. McNeil, M. L. Marazita.

534T   Copy number variation profiling of patients with oesophageal atresia and VACTERL. A. deKlein, E. Brosens, H. P. Zaveri, E. de Jong, D. A. Scott, D. Tibboel.

535F   Human endogenous retroviral elements mediate multiple large deletions and reciprocal duplications suggestive of NAHR. P. Dittwald, I. M. Campbell, A. Shuvarikov, C. R. Beck, P. Hixson, T. Gambin, C. A. Shaw, A. Gambin, J. A. Rosenfeld, P. Stankiewicz.

536W   A comprehensive high resolution map of copy number variants shows unique disease risks in a consanguineous Arab population. K. Fakhro, J. L. Rodriguez-Flores, N. Yousri, A. Robay, J. G. Mezey, R. G. Crystal.

537T   Post-zygotic structural changes in the nuclear genome of human blood cells. L. A. Forsberg, C. Rasi, D. Absher, L. Lannfelt, A. Morris, C. Lindgren, E. Ingelsson, L. Lind, D. Dumanski.

538F   Creating a haplotype map for multi-allelic forms of copy number variation in humans. R. Handsaker, S. McCarroll.

539W   Quantitative analysis of mosaic CNVs in human fibroblasts and iPSC by digital droplet PCR. M. Haney, A. Abyzov, Y. Zhang, J. Ferrandino, J. Mariani, D. Palejev, L. Tomasini, L. Belmaker, A. Szekely, M. Wilson, A. Kocabas, N. Calixto, E. Grigorenko, A. Huttner, S. Weissman, M. Gerstein, F. Vaccarino, A. Urban.

540T   Copy number variation studies by single cell sequencing. J. He, P. Liu, Y. Man.

541F   Measurement of cyclin D1 copy number variation at the single cell level using droplet digital PCR. E. Hefner, Y. Jouvenot, N. Klitgord, K. Hamby.

542W   Comparison of copy number variation (CNV) calling performance in large numbers of technical replicate SNP array data using three different, widely-used CNV calling algorithms. A. Hofmann, S. Herms, F. Degenhardt, T. W. Mühleisen, M. M. Nöthen, S. Cichon, P. Hoffmann.

543T   Ultraconserved elements: Often disrupted in disease-specific copy number variation, almost never involved in benign CNVs. R. B. McCole, C. Y. Fonseka, C.-T. Wu.

544F   Copy number variation analysis for whole exome and targeted sequencing using NextGENe® Software Version 2.3.4. J. McGuigan, J. Wu, C. S. Liu.

545W   Identification of deleterious CNVs in a low SES African American population. K. B. Mercer, L. M. Almli, K. J. Ressler, J. G. Mulle.

546T   Determining the utility of MitoExome targeted array CGH in the diagnosis of OXPHOS disorders. H. S. Mountford, E. J. Tucker, A. G. Compton, N. J. Lake, S. G. Hershman, S. E. Calvo, V. K. Mootha, D. R. Thorburn.

547F   European-specific selection at the CCL3L1 locus. H. T. Nguyen, T. R. Merriman, M. A. Black.

548W   Integration of copy number and structural variation across families can provide unique insight into disease pathology: Osteogenesis imperfecta and autism cases explored. A. O'Hara, L. Culot, S. Verma, Z. Che, S. Shams.

549T   SMN1 and SMN2 conversion rates and their influence on the identification of spinal muscular atrophy carriers. J. Regan, T. Legler, D. Shelton, D. Maar, K. Hamby.

550F   Frequency of gene usage and copy number variation within the rearranged immunoglobin heavy-chain variable locus based on immune repertoire sequencing. M. J. Rieder, D. Williamson, A. Sherwood, R. Emerson, C. Desmarais, M. Chung, H. Robins, C. Carlson.

551W   Copy number variants near SLC2A9 are associated with hyperuricemia. R. B. Scharpf, L. Mireles, E. Halper-Stromberg, A. Tin, A. Chakravarti, E. Boerwinkle, J. Coresh, W. H. L. Kao.

552T   Comprehensive comparison of copy number variations detection using Illumina Omni 2.5M and Affymetrix CytoScan® arrays. C. Tang, E. Wong, H. Gui, S. Cherny, P. Sham, P. Tam, M. Garcia-Barceló.

553F   Characterisation of the RNU2 CNV, a bulky neighbour for BRCA1. C. Tessereau, N. Monnet, M. Imbert, M. Buisson, L. Barjhoux, C. Cuenin, C. Schluth-Bolard, D. Sanlaville, Z. Herceg, E. Conseiller, M. Ceppi, L. Duret, O. M. Sinilnikova, S. Mazoyer.

554W   Testing rare coding deletions identified using dense exome chip array data for contribution to type 2 diabetes. M. Thurner, A. Mahajan, N. Robertson, A. Kumar, W. Rayner, F. Karpe, C. Palmer, T. Spector, M. McCarthy, K. Gaulton, GoT2D Consortium.

555T   Multiplex emulsion haplotype fusion PCR to determine haplotypes at structurally complex regions. J. Tyson, H. A. Black, J. A. L. Armour.

556F   Study of 455 molecularly unsolved LWD and ISS cases: Identification of two deletions and the first duplication upstream of SHOX. H. Verdin, L. Borms, E. Debals, B. D'haene, G. Matthijs, E. Maris, S. Depoorter, E. De Baere.

557W   Diversity of the human LILRB3/A6 locus encoding a myeloid inhibitory and activating receptor pair. N. Vince, A. Bashirova, R. Apps, Y. Mochalova, X. Yu, M. Carrington.

558T   Highly variable tandem repeat genes: Hotspots for primate evolution and human disease susceptibility. C. T. Watson, D. Ho, M. Brahmachary, A. Guimatre, C. Borel, P. Warburton, A. J. Sharp.

559F   Detection of CNV gains and losses with Affymetrix® Axiom® arrays. T. Webster, H. Zuzan, J. Gollub, J. Schmidt, A. Roter.

560W   Fusion genes resulting from complex duplications in chromosome Xq28. L. W. Zuccherato, B. Alleva, C. M. B. Carvalho, J. R. Lupski.

561T   Mapping of a human genome with a single molecule nanochannel array platform for genome-wide structural variation analysis and de novo sequence assembly of next-generation sequence reads. Y. Y. Y. Lai, A. C. Y. Mak, E. T. Lam, J. Silbert, T. P. Kwok, J. W. Li, A. K. Y. Leung, J. J. K. Wu, A. K. Y. Yim, A. Poon, C. Chu, C. Lin, M. Requa, A. Hastie, T. Anantharaman, H. VanSteenhouse, H. Dai, F. Trintchouk, M. Saghbini, M. Austin, K. Haden, H. Cao, S. M. Yiu, K. Y. Yip, T. F. Chan, M. Xiao, P. Y. Kwok.

562F   CNP imputation using 1000 Genome Project data as reference panel and intensity based analysis of copy number variation in African Americans. Y. Meng, J. Nemesh, D. Altshuler, E. J. Benjamin, E. Boerwinkle, D. Bowden, C. W. K. Chiang, M. Fornage, J. Glessner, A. Kutlar, G. Lettre, M. Li, S. Musani, G. Papanicolaou, S. Redline, A. Reiner, S. Rich, D. Siscovick, X. Zhu, H. Hakonarson, J. G. Wilson, B. Keating, J. N. Hirschhorn, S. A. McCarroll.

563W   Haplotype imbalance reveals subtle genomic mosaicism in blood and cell line samples. S. Vattathil, X. Xiao, P. Scheet.

564T   Genome-wide bioinformatic analysis demonstrates distinct Alu elements predispose specific loci to pathogenic structural rearrangements. I. M. Campbell, C. R. Beck, P. M. Boone, C. A. Shaw, J. R. Lupski.

565F   Comprehensive analysis of polymorphic numt insertions in human and primate populations. G. Dayama, S. B. Emery, J. M. Kidd, R. E. Mills.

566W   An estimate of effective population size from individuals of various populations. H. R. Johnston IV.

567T   Genome-wide associated variants in migraine susceptibility: A replication study from North India. B. Mittal, J. Ghosh, S. Pradhan.

568F   Truncating mutations in protocadherin 15 exon 33 which encodes the cytoplasmic domain are unlikely to be disease-causing. C. L. Perreault-Micale, N. Chennagiri, C. J. Kennedy, A. Frieden, D. Neitzel, N. Faulker, S. Hallam, V. Greger.

569W   Rapid genome-wide mapping at single molecule level using nanochannel array for structural variation analysis and de novo assembly. H. C. Cao, A. H. Hastie, E. L. Lam, H. D. Dai, T. A. Anantharaman, M. X. Xiao, P.-Y. K. Kwok.

570T   Describing translocations using HGVS sequence variation nomenclature, suggested extensions. P. Taschner, J. den Dunnen.

571F   Common variation in the melanocortin 4 receptor gene (MC4R) is associated with increased food intake and obesity in American Indians. Y. L. Muller, R. L. Hanson, M. Thearle, D. Hoffman, B. Gene, K. Huang, S. Kobes, S. Votruba, J. Krakoff, W. C. Knowler, C. Bogardus, L. J. Baier.

572W   Next-generation sequencing of complete mitochondrial genomes of Slovenian Lebers's hereditary optic neuropathy patients revealed one novel mutation and several probable synergistic variants. D. Glavac, M. Tajnik, M. Jarc-Vidmar, M. Hawlina.

573T   Genetic diversity in black South Africans from Soweto. M. Ramsay, S. Hazelhurst, Y. Li, M. Waldvogel, J. Eichenberger, S. A. Norris, M. Govind, M. Tikly, C. Hon, K. J. Johnson, N. Hartmann, F. Staedtler, A. May.

574F   The African Genome Variation Project Phase II: Detailed characterisation of genetic variation in sub-Saharan Africa. D. Gurdasani, T. Carstensen, African Genome Variation Project Phase II Investigators.

575W   The completion of the 1000 Genomes Project. A. Auton, 1000 Genomes Project Consortium.

576T   Quality control metrics for whole exome sequence data analysis and detailed genetic variation from 6,000 disease participants within the UK10K project. J. Floyd, on behalf of UK10K Consortium: Exomes.

577F   Detailed annotated whole genome sequences of a Tibetan trio family revealed high-altitude genetics and demographic insights. M. He, A. Asan, X. Jin, E. Huerta-Sanchez, R. Wang, Z. Cuo, Y. Shan, Y. Shi, M. Yang, X. Xie, K. Harris, D. Cao, l. Song, J. Zhao, Z. Su, J. Zhang, Y. Chang, C. Yu, H. Huasang, J. Luosang, X. Yi, Y. Liang, R. Nielsen, J. Wang, W. Wang, J. Wang.

578W   Genetic structure and diversity of 38 Singapore Indians from deep whole-genome sequencing. L. P. Wong, H. T. Ong, K. H. Lai, W. Y. Saw, X. Liu, E. P. N. Pillai, Y. Y. Teo.

579T   Detection of variations and their frequencies of the CCR5 gene and its promoter region in Japanese and Okinawan population by NGS analysis using pooled DNAs. T. Kaname, K. Yanagi, M. Higa, S. Song, K. Naritomi.

580F   Functional characterization of rare variants in human dopamine receptor D4 gene by genotype - phenotype correlations. A. MichealRaj, N. Jatana, Md. Jafurulla, L. Narayanan, A. Chattopadhyay, B. K. Thelma.

581W   Determining the properties of loss-of-function variation in candidate essential human genes. A. R. Rao, S. F. Nelson, E. Vilain, W. W. Grody, H. Lee.

582T   Functional assessment of genetic variants associated with Lp(a) levels on chromosome 6q25-26. K. Chen, W. Lu, Y. Cheng, K. Ma, G. S. Gerhard, C. D. Still, X. Chu, R. Yang, A. Gorden, M. J. Quon, B. D. Mitchell, A. R. Shuldiner, M. Fu.

583F   Identification of nine mutations in the COL1A1 gene in Czech patients with osteogenesis imperfecta. L. Šormová, I. Fialkowski, W. Van Hul, G. Mortier, I. Mařík, I. Mazura.

584W   Findings from the third Critical Assessment of Genome Interpretation, CAGI 2013, a community experiment to evaluate phenotype prediction. S. E. Brenner, D. Barsky, J. Moult, CAGI Participants.

585T   Whole genome sequencing of rhesus macaques reveals substantial functional variation and justifies a “reverse genetics” approach to identify new models of human disease. M. Raveendran, D. Rio Deiros, G. L. Fawcett, Z. Johnson, N. H. Kalin, R. W. Wiseman, B. Ferguson, E. Vallender, S. Kanthaswamy, H. Doddapaneni, S. Jhangiani, D. M. Muzny, R. A. Gibbs, J. Rogers.

586F   Expression minigenes reveal the limitations of algorithms predicting the consequences of putative splice site mutations. N. Sharma, P. Sosnay, A. Franca, C. Douville, A. Ramalho, L. B. Gottschalk, K. R. Siklosi, M. Amaral, R. Karchin, G. R. Cutting.

587W   Linear decay of retrotransposon antisense bias across genes is contingent upon tissue specificity. S. Linker, D. Hedges.

588T   Nicotine causes genome-wide microsatellite instability in normal epithelial cells. J. Bavarva, L. McIver, T. Hongseok, H. Garner.

589F   Probing genes for hyperphagia in rare-obesity related disorders. M. G. Butler, J. D. Marshall, J. Rethmeyer, K. Wang, A. M. Manzardo.

590W   High sensitivity, single-cell expression analysis with the QX100 Droplet Digital PCR system. G. Karlin-Neumann, S. Wang, Y. Jouvenot, E. Heffner.

591T   Individual variation in the rate of retrotransposition in iPS cells and its effect on genomic instability with regard to medical utility. T. T. Doucet, C. Smith, A. Ewing, K. Burns, L. Cheng, H. H. Kazazian.

592F   High-resolution mapping of break locations in human common fragile sites FRA3B, FRA7H, and FRAXB. C. L. Kaminski, W. Fitzsimmons, K. Dziuba, A. Layer, A. M. Casper.

593W   Functional characterization of DcR3 in EBV transformed cell lines from IBD patients of different allelic background and role in disease pathogenesis. R. Pandey, C. Cardinale, K. Kachelries, S. F. A. Grant, R. Baldassano, H. Hakonarson.

594T   Functional characterization of the role that components of the retrograde transport machinery play in early HIV events. S. Liu, M. Dominska, D. M. Dykxhoorn.

595F   Differential gene expression in granulosa cells from polycystic ovary syndrome patients with and without insulin resistance: Identification of susceptibility gene sets through network analysis. S. Kaur, K. J. Archer, M. G. Devi, A. Kriplani, J. F. Strauss, R. Singh.

596W   Insulin-induced kinase signaling contributes to individual differences in response to insulin. I. X. Wang, V. G. Cheung.

597T   Relationship between mitochondrial DNA mutations and aging: Estimation of age at death. S. C. Zapico, D. H. Ubelaker.

598F   Genome-wide analysis identifies heat shock induced gene and chromatin regulatory protein network in Saccharomyces cerevisiae. R. Li, M. D. Ritchie.

599W   Human neuropathy target esterase rescues SWS Drosophila neurodegeneration. N. D. Hein, A. K. Sujkowski, A. M. Taylor, R. J. Tabano, A. Harrell, S. Rainier, R. J. Wessell, J. K. Fink.

600T   Microbiomic profiles and clinicopathologic outcome markers in oropharyngeal cancers. P. Funchain, G. Bebek, K. Bennett, F. Niazi, N. Fowler, B. Burkey, C. Eng.

601F   Metagenomic diagnosis of culture-negative infective endocarditis. A. Imai, Y. Asano, S. Nakamura, K. Gotoh, D. Motooka, Y. Sakata, T. Iida, T. Horii, S. Takashima.

602W   Exome capture from saliva produces high quality genomic and metagenomic data. D. Bobo, T. Sharpton, P. Norman, M. Carpenter, M. Sikora, C. Gignoux, N. Gorgani, M. Guadalupe, K. Pollard, P. Parham, M. Feldman, J. Wall, C. Bustamante, J. Kidd, B. Henn.

603T   Host genetic control of the human gut microbiome. J. K. Goodrich, R. Blekhman, O. Koren, A. C. Poole, M. Beaumont, J. T. Bell, T. D. Spector, A. G. Clark, R. E. Ley.

604F   Temporal variation in human gut microbiome composition in the Hutterites. E. R. Davenport, O. Mizrahi-Man, K. Michelini, L. B. Barreiro, C. Ober, Y. Gilad.

605W   Using blood-born miRNA profiles and machine-learning techniques to predict inflammatory phenotypes. M. Huebenthal, G. Hemmrich-Stanisak, Z. G. Du, S. Nikolaus, S. Zeissig, S. Schreiber, A. Franke.

606T   Transcriptional profiling of lncRNAs reveals important biological roles in psoriasis. L. Tsoi, M. Iyer, P. Stuart, T. Tejasvi, B. Li, J. Ding, J. Gudjonsson, H. Kang, R. Nair, A. Chinnaiyan, G. Abecasis, J. Elder.

607F   Deciphering and exploiting transcriptome-wide microRNA binding profiles in human brain. R. L. Boudreau, P. Jiang, B. L. Gilmore, R. M. Spengler, R. Tirabassi, J. A. Nelson, C. A. Ross, Y. Xing, B. L. Davidson.

608W   Association of non-coding SNPs with decreased levels of miR-9 and alcoholism. A. Pietrzykowski, Y. Wang, O. Anees, E. Mead, N. Kinstlinger, L. Tejeda, A. Hot.

609T   De novo discovery of distant regulatory elements by enhancer RNA expression. H. Wu, A. Nord, J. Akiyama, M. Shoukry, V. Afzal, E. Rubin, L. Pennacchio, A. Visel.

610F   MicroRNA regulation in the inner ear and link to deafness. K. Avraham, A. Rudnicki, K. Ushakov, O. Isakov, N. Shomron.

611W   Integrated microRNA and mRNA signature associated with the transition from the locally confined to the metastasized renal cell carcinoma. J. Billaud, Z. Wotschofsky, K. Jung, H. Meyer.

612T   Global patterns of miRNA variation and population-specific differentiation based on whole genome sequence data. R. A. Rawlings-Goss, S. Tishkoff.

613F   Evaluation and identification of master regulatory microRNAs on protein levels. A. L. Stark, R. J. Hause, Jr., R. B. Jones, M. E. Dolan.

614W   Study of microRNAs regulated by hypoxia in cells latently infected by Kaposi’s sarcoma-associated virus. C. Viollet-Djelassi, D. Davis, C. Camps, M. Reczko, F. Pezzella, R. Yarchoan, I. Ragoussis.

615T   Functional assessment of snoRNA-derived microRNAs in Prader-Willi syndrome. V. Williamson, M. Mamdani, G. McMichael, V. Vladimirov.

616F   New clues that shape microRNA expression in human neurospheres. C. Palacios, A. Espinoza, A. Contreras, N. Najera, I. Rubio, A. Conejo, I. Ita, I. Palma.

617W   LncRNAs regulation in insulin resistance of the adipose tissue. M. Pradas-Juni, X. Bofill, F. Hanzu, C. Fillat, R. Gomis, E. Fernandez-Rebollo.

618T   Characterization of piRNA genomic distribution and expression variation in human individuals. J. Xing, H. Ha, J. Song, S. Wang, K. C. Chen.

619F   Alternative splicing of MAP/microtubule affinity-regulating kinase 4 in glioma: Search for involvement of polypyrimidine-tract binding protein. L. Fontana, D. Rovina, C. Novielli, I. Magnani, L. Larizza.

620W   A synonymous change, p.Gly16Gly in MECP2 exon 1, causes a cryptic splice event in a Rett syndrome patient. T. I. Sheikh, J. Vincent.

621T   Role of RNA editing in ER stress response. A. Richards, I. Wang, V. Cheung.

622F   Understanding translational regulation using RNA-seq of ribosome protected mRNA fragments. J. Pease, S. Kuersten, P. De Araujo, D. Vo, S. Burs, M. Qiao, A. Radek, E. Bahrami, P. Uren, A. Smith, L. Penalva.

623W   Integrator Complex Subunit 8 mutation associated with cortical and cerebellar malformations results in disruption of the Integrator complex and spliceosomal defects. G. M. Mancini, R. Oegema, D. Baillat, R. Schot, D. Heijsman, L. van Unen, S. Kheradmand Kia, J. Hoogeboom, A. Kremer, F. W. Verheijen, P. van der Spek, R. M. Hofstra, E. Wagner, M. Fornerod.

624T   Predicting the impact of non-coding genetic variants on complex traits. F. Luca, G. Moyerbrailean, R. Pique-Regi.

625F   Mutation profiling of exonic-enhancers using massively parallel reporter assays. R. Y. Birnbaum, R. P. Patwardhan, M. J. Kim, G. Finlay, J. Zhao, R. Bell, R. P. Smith, A. A. Ku, J. Shendure, N. Ahituv.

626W   HSA21 single-minded 2 binding sites co-localize with super-enhancers and pioneer transcription factors in pluripotent mouse ES cells. A. Letourneau, G. Cobellis, F. Santoni, E. Falconnet, A. Vannier, M. Guipponi, C. Borel, S. E. Antonarakis.

627T   Splicing QTL analysis from primary immune cells identifies regulatory effects putatively associated with autism and Alzheimer’s disease. J. M. Replogle, T. Raj, K. L. Rothamel, C. Benoist, B. E. Stranger, P. L. De Jager, Immunological Variation Consortium.

628F   Transcription in the human brain: DNA methylation in a single nucleosome may regulate an opioid gene as a region-specific “epigenetic switch”. G. Bakalkin, T. Yakovleva, H. Watanabe, O. Kononenko, R. Henriksson, I. Bazov.

629W   Sex chromosomes and sexual dimorphism in human transcriptome. D. Nguyen, C. Disteche.

630T   FREM1 regulates genes important for HIV-1 replication and cell migration. M. Luo, J. Sainsbury, P. Lacap, F. Plummer.

631F   In vivo UASGal gene regulation analysis using a novel approach. H. Guillen Ahlers, A. Ludwig-Kubinski, K. Lazarova, A. M. Greene, J. Kennedy-Darling, M. Levenstein, C. Anderson, J. Barfknecht, R. Knoener, M. Scalf, Y. Yuan, R. Cole, M. Shortreed, L. Cirillo, L. Smith, M. Olivier.

632W   Functional impact of polymorphic inversions on gene expression in humans. M. Oliva, S. Villatoro, L. Pantano, C. Aguado, D. Vicente-Salvador, D. Izquierdo, M. Puig, T. Marques-Bonet, J. I. Lucas Lledó, R. Castelo, M. Cáceres.

633T   Targeted sequencing of promoter-associated tandem repeats identifies common functional effects on gene expression levels in the human genome. A. J. Sharp, A. Guilmatre, P. Garg, G. Highnam, D. Mittelman.

634F   Targeted CD4+ effector memory T-cell gene expression profiling identifies state-specific cis-eQTLs among rheumatoid arthritis and celiac disease risk variants. X. Hu, H. Kim, C. Baecher-Allan, T. Raj, P. Brennan, P. De Jager, M. Brenner, S. Raychaudhuri.

635W   Mapping the genetic architecture of gene regulation in whole blood in the KORA study. K. Schramm, C. Marzi, C. Schurmann, M. Carstensen, E. Reinmaa, C. Gieger, E. Mihhailov, R. Mägi, A. Peters, K. Strauch, M. Roden, T. Illig, T. Meitinger, A. Metspalu, C. Herder, H. Grallert, H. Prokisch.

636T   Paired eQTL analysis of monocytes and differentiated macrophages. S. Makino, V. Naranbhai, J. Knight, B. Fairfax.

637F   Human cytomegalovirus pUL23 protein potentially associated with viral latency. H. Li, B. Zeng, J. Li, H. Liu, Y. Ran, Y. Li, T. Zhou, Z. Deng.

638W   Resolving regulatory genetic variants in severe sepsis due to community acquired pneumonia by mapping context specific expression quantitative trait loci. E. E. Davenport, J. Radhakrishnan, P. Humburg, T. Mills, P. Hutton, C. Garrard, C. Hinds, J. C. Knight, GAinS Investigators.

639T   A comparative transcriptome analysis identifies FGF23-regulated genes in HEK293 cells stably expressing KLOTHO. S. Diener, T. Schwarzmayr, A. Schmittfull, T. Wieland, B. Lorenz-Depiereux, T. M. Strom.

640F   Circulating miRNAs associated with high altitude sickness at the Qinghai-Tibetan Plateau. N. E. Buroker, X.-H. Ning, Z.-N. Zhou, K. Li, W.-J. Cen, X.-F. Wu, W.-Z. Zhu, C. R. Scott, S. H. Chen.

641W   Genetic and epigenetic regulation of human lincRNAs gene expression variation. K. Popadin, M. Gutierrez-Arcelus, E. T. Dermitzakis, S. E. Antonarakis.

642T   Heritability of gene expression levels in genome-wide analyses. T. Huan, C. Liu, R. Joehanes, X. Zhang, M. Larson, B. Chen, C. Yao, A. Johnson, P. Munson, P. Courchesne, C. O'Donnell, D. Levy.

643F   Cis and trans effects of human variations on gene expression. J. Bryois, A. Buil, D. M. Evans, J. P. Kemp, S. B. Montgomery, D. F. Conrad, K. M. Ho, S. Ring, M. Hurles, P. Deloukas, G. D. Smith, E. T. Dermitzakis.

644W   Common genetic variation within transcription factor binding sites is associated with bipolar disorder. D. T. W. Chen, N. Akula, L. Hou, L. Jing, G. Hawariat, S. Detera-Wadleigh, X. Jiang, BiGs Consortium, F. J. McMahon.

645T   Effect of transcription factor binding variation depends on genomic context. D. A. Cusanovich, B. Pavlovic, J. K. Pritchard, Y. Gilad.

646F   Localizing ancient causal regulatory variants from global genetic analyses of gene expression. M. K. DeGorter, S. B. Montgomery.

647W   Regulatory function of CACNA1C schizophrenia-associated variants. N. Eckart, R. Wang, M. Szymanski-Pierce, M. Zeledon, S. Goswami, D. Valle, D. Avramopoulos.

648T   Extensive variation in chromatin states across human individuals and populations. F. Grubert, M. Kasowski, S. Kyriazopoulou-Panagiotopoulou, J. Zaugg, A. Kundaje, Y. Liu, A. Boyle, Q. Zhang, F. Zakharia, D. Spacek, J. Li, D. Xie, L. Steinmetz, M. Kellis, S. Batzoglou, M. Snyder.

649F   Identification of enhancer-promoter interactions in the mammalian genome. Y.-C. Hwang, Q. Zheng, C.-F. Lin, O. Valladares, B. D. Gregory, L.-S. Wang.

650W   Small introns of firefly luciferases: Structural characterization and their insufficient substrates for splicing in CHO cells. M. Ishii, R. Kojima, S. Fukuda, Y. Tanji, M. Sakaguchi, Y. Sugahara, M. Kamaya, F. Oyama.

651T   A comprehensive genomic landscape of NRSF binding in various cell types. P. Jain, F. P. Behn, G. M. Cooper, R. M. Myers.

652F   Distal co-regulated regions are crucial for human phenotypes. K. J. Karczewski, A. Battle, D. Knowles, M. Snyder, S. B. Montgomery.

653W   Regulatory motif centric validation, dissection, and construction of transcriptional enhancers. P. Kheradpour, J. Ernst, A. Melnikov, P. Rogov, L. Wang, X. Zhang, J. Alston, T. S. Mikkelsen, M. Kellis.

654T   Discovery and analysis of over 50,000 common functional regulatory variants in the human genome. M. T. Maurano, E. Haugen, E. Rynes, R. Humbert, J. A. Stamatoyannopoulos.

655F   The impact of post-mortem sample collection on gene expression in the genotype-tissue expression project. T. R. Young, D. S. DeLuca, G. Getz, K. Ardlie, GTEx Consortium.

656W   Human transcriptome landscape characterized by deep RNA sequencing in 957 individuals. X. Zhu, S. Mostafavi, A. Battle, K. Beckman, C. Haudenschild, C. McCormick, D. Koller, A. E. Urban, D. F. Levinson, S. B. Montgomery.

657T   Chromatin enhancer maps in early differentiating T helper cells reveal regulatory SNPs associated with autoimmune diseases. D. Hawkins, A. Larjo, S. Tripathi, U. Wagner, Y. Luu, S. Raghav, L. Lee, S. Raghav, R. Lund, B. Ren, H. Lahdesmaki, R. Lahesmaa.

658F   Analysis of allele specific expression in mouse liver by RNA-seq: Marked differences compared to cis-eQTL identified using genetic linkage. P.-F. Roux, S. Lagarrigue, L. Martin, F. Hormozdiari, A. van Nas, O. Demeure, A. Ghazalpour, E. Eskin, A. J. Lusis.

659W   A large-scale transcriptome study in the Sardinian population. M. Pala, M. Marongiu, Z. Zappala, A. Mulas, R. Cusano, F. Crobu, F. Reinier, R. Berutti, M. G. Piras, C. Jones, D. Schlessinger, G. Abecasis, A. Angius, S. Sanna, F. Cucca, S. Montgomery.

660T   ChIP-Enrich analysis of ENCODE ChIP-seq data reveals biological and technical insights into the regulation of pathways. M. A. Sartor, R. G. Cavalcante, C. Lee, N. A. Comment, S. Ramdas, N. M. Dehaan, R. P. Welch, S. Patil, L. J. Scott.

661F   Establishing an eQTL map of the Japanese population. M. Narahara, F. Matsuda, K. Higasa, Y. Tabara, T. Kawaguchi, R. Yamada.

662W   Genetic, evolutionary, and structural properties of protein fragility. D. Vuzman, C. Cassa, D. Jordan, S. Sunyaev.

663T   Whole transcriptome array to identify alternative splicing signals controlled by SNPs in human brain. H. Zhou, L. Chen, A. Kutlu, C. Molony, D. Stone.

664F   Gene expression profiling of young and adult mouse cochlea by RNA-seq in strains with normal and age-related hearing loss. A. B. S. Giersch, J. Shen, N. G. Robertson, K. Wong, C. C. Morton.

665W   Transcriptional response to 1,25(OH)2 vitamin D in the human colon of African- and European-Americans. S. Kupfer, K. Ceryes, M. Chase, J. Maranville, A. Di Rienzo.

666T   Participation of individual genes, signaling pathways and biological processes related to inflammation in gestational diabetes mellitus. N. B. Cezar, A. F. Evangelista, D. J. Xavier, A. F. Assis, T. C. Arns, M. C. Foss-Freitas, M. C. Foss, E. T. Sakamoto-Hojo, E. A. Donadi, G. A. Passos.

667F   Gene expression studies by RNA-seq in airway epithelial cells from asthmatic and non-asthmatic individuals. R. A. Myers, J. Nicodemus-Johnson, D. K. Hogarth, J. Sudi, J. F. McConville, E. T. Naureckas, A. I. Sperling, J. Solway, J. A. Krishnan, S. R. White, D. L. Nicolae, C. Ober.

668W   Age-related variations in the transcriptome and methylome of human monocytes. L. M. Reynolds, J. Ding, K. Lohman, J. R. Taylor, A. de la Fuente, T. F. Liu, C. Johnson, R. G. Barr, T. C. Register, K. M. Donohue, M. V. Talor, D. Cihakova, C. C. Gu, J. Divers, J. Z. Kuo, D. Siscovick, G. Burke, W. Post, S. Shea, D. R. Jacobs, Jr., I. Hoeschele, C. E. McCall, S. B. Kritchevsky, D. M. Herrington, R. P. Tracy, Y. Liu.

669T   Transcriptome profiling of human ulcerative colitis mucosa shows altered expression of pathways overlapping genome-wide association susceptibility loci. C. J. Cardinale, Z. Wei, J. Li, J. Zhu, R. N. Baldassano, H. Hakonarson.

670F   eQTLs and allele specific expression of HLA haplotypes and amino acids associated to autoimmune diseases. A. Zhernakova, M. van der Sijde, J. Gutierrez-Achury, P. J. McLaren, D. V. Zhernakova, P. I. W. de Bakker, H. J. Westra, L. Franke, C. Wijmenga, J. Fu.

671W   Host and pathogen transcriptome profiling during Leishmania major infection. L. A. L. Dillon, R. Suresh, K. Okrah, M. Mangione, J. Choi, H. Corrada Bravo, D. M. Mosser, N. M. El-Sayed.

672T   Comparative analysis of gene expression profiles in the cerebellum and granule neurons of the Cstb-/- mouse, a model for the Unverricht-Lundborg disease (EPM1). T. Joensuu, S. Tegelberg, E. Reinmaa, M. Segerstrĺle, P. Hakala, H. Pehkonen, E. R. Korpi, J. Tyynelä, T. Taira, I. Hovatta, O. Kopra, A.-E. Lehesjoki.

673F   Peripheral blood microarrays identify dysregulated genes and pathways unique to psoriatic arthritis compared to psoriasis without arthritis. R. Pollock, V. Chandran, C. Virtanen, F. Pellett, C. Rosen, K. Liang, D. Gladman.

674W   Deep sequencing of microRNAs and novel tRF RNAs in human monocytes. C. Li, H. Ge, C. Lindvay, M. Chhoa, E. Lamas, S. Escobar, H. Arnett, T. Juan, R. Sandrock.

675T   Platelet RNA and expression-1 study demonstrates RNA expression differences that correlate with ancestry. L. Simon, E. Chen, L. Edelstein, P. Bray, C. Shaw.

676F   Genetic variation underlying protein expression variation in brain samples and lymphoblastoid cell lines. R. J. Hause, C. T. Archer, L. Cheng, J. A. Badner, C. Liu, R. B. Jones.

677W   Identification of novel non-coding RNAs associated with smoking. M. J. Peters, F. A. S. Smouter, J. G. J. van Rooij, D. Schmitz, M. Jhamai, P. Arp, F. Rivadeneira, A. Hofman, A. G. Uitterlinden, J. B. J. van Meurs.

678T   Using metabolomics and ex vivo activity approaches to understand the functional role of epoxide hydrolase 2 gene in anorexia nervosa. P. Shih, C. Morisseau, J. Yang, T. Clarke, A. Van Zeeland, A. Bergen, P. Magistretti, N. Schork, W. Berrettini, B. D. Hammock, W. Kaye, Price Foundation Collaborative Group.

679F   The African Genome Variation Project Phase II: Down-sampling of African whole genome sequence data. T. Carstensen, D. Gurdasani.

680W   SRD5A2 gene polymorphisms affect the risk of benign prostatic hyperplasia. V. K. Choubey, S. N. Sankhwar, J. Carlus, A. N. Singh, D. Dalela, R. Singh.

681T   High-resolution personal genome-wide maps of meiotic double-strand breaks in humans. F. Pratto, K. Brick, P. Khil, F. Smagulova, G. Petukhova, R. D. Camerini-Otero.

682F   Comparative analysis of biological activity of 11 mammalian paralogs of the novel human interferon IFNλ-4 associated with viral clearance. W. Tang, M. Dennis, L. Prokunina-Olsson.

683W   Analysis of the expression of celiac disease associated genes in T-cells. C. Coleman, E. Quinn, R. Grealy, V. Trimble, R. McManus.

684T   Alternative promoter activation leads to the expression of a novel variant of human lysyl oxidase (LOX-v2) that functions as an amine oxidase. Y. Kim, S. Park, S. Kim.

685F   Real-time PCR for indel markers detection in cffDNA. M. D. Santos, F. M. F. Nunes, A. L. Simőes.

686W   Haplotyping single nucleotide polymorphisms and distinguishing deletion carrier status. D. Maar, S. Tzonev, N. Klitgord, S. Cooper, G. Karlin-Neumann, K. Hamby, J. Regan.

687T   Deep mutational scanning to assess how mutations impact protein aggregation. D. M. Fowler.

688F   Allele level sequencing and phasing of full-length HLA class I and II genes using SMRT® sequencing technology. S. Ranade, J. Chin, B. Bowman, K. Eng, S. Suzuki, Y. Ozaki, T. Shiina.

689W   The role of MDR1, C3435T and C1236T single nucleotide polymorphisms in male infertility. S. Aydos, A. Karadag, T. Ozkan, B. Altinok, M. Bunsuz, S. Heidargholizadeh, K. Aydos, A. Sunguroglu.

690T   Interactions between epigenetic and genetic signatures in the asthmatic airway. J. Nicodemus-Johnson, R. A. Myers, D. K. Hogarth, J. Sudi, J. F. McConville, E. T. Naureckas, A. I. Sperling, J. Solway, J. A. Krishnan, S. R. White, D. L. Nicolae, Y. Gilad, C. Ober.

691F   Investigation of cytotoxic T-lymphocyte-associated protein 4 gene polymorphisms in systemic lupus erythematosus. H. Yang, T. Chen, C. Lee, S. Chang, W. Chen, W. Lin, C. Lin, Y. Lee.

692W   Large scale identification of alternative polyadenylation through next-generation sequencing. C. M. Lopes-Ramos, A. A. Camargo, P. A. F. Galante, R. B. Parmigiani.

693T   Identification of DNA editing in retrotransposons of diverse genomes. B. A. Knisbacher, E. Y. Levanon.

694F   Association between estrogen receptor and intraocular pressure in mice. F. Mabuchi, R. Yamagishi, K. Kashiwagi, M. Aihara.


Pharmacogenetics

 

695W   CCL3L1 copy number, HIV load, and immune reconstitution in sub-Saharan Africans. E. J. Hollox, L. Odenthal-Hesse, J. Bowdrey, A. Habtewold, E. Ngaimisi, G. Yimer, W. Amogne, S. Mugusi, O. Minzi, E. Makonnen, M. Janabi, F. Mugusi, G. Aderaye, R. Hardwick, B. Fu, M. Viskaduraki, F. Yang, E. Aklillu.

696W   Role of translocator protein (TSPO) in antipsychotic-induced weight gain. J. G. Pouget, V. F. Gonçalves, A. K. Tiwari, J. A. Lieberman, H. Y. Meltzer, D. J. Müller, J. L. Kennedy.

697W   Association between polymorphisms in genes coding for cellular drug transporters and the effectiveness of antiretroviral therapy against HIV-1 among Brazilians. C. C. Cardoso, J. Z. C. Dias, M. B. Arruda, R. M. Brindeiro, O. Ferreira, A. Tanuri, R. S. Aguiar.

698W   Differential effects at candidate SNP loci on reduction in plasma LDL cholesterol, apolipoprotein B, LDL particle number, and mean LDL particle size with statin therapy. A. Y. Chu, B. J. Barratt, B. Ding, F. Nyberg, S. Mora, P. M. Ridker, D. I. Chasman.

699W   A hypothesis driven association analysis of nuclear-encoded mitochondrial genes with antipsychotic-induced weight gain in schizophrenia subjects. V. F. Gonçalves, C. Zai, A. Tiwari, A. Derkach, H. Meltzer, J. Lieberman, A. D. Paterson, L. Sun, D. Mueller, J. L. Kennedy.

700W   PAX4 genetic variant is associated with therapeutic effect of repaglinide in the Chinese type 2 diabetes patients. C. Hu, M. Chen, R. Zhang, Y. Bao, K. Xiang, W. Jia.

701W   Multi-ethnic cytochrome P450-2D6 (CYP2D6) allele frequency profiling and full gene single-molecule real-time (SMRT®) sequencing. S. Martis, Y. Yang, A. Gaedigk, R. Sebra, R. Vijzelaar, R. Kornreich, R. J. Desnick, S. A. Scott.

702W   Association of cyclooxygenase-2 genetic variant with cardiovascular disease. S. A. Ross, J. W. Eikelboom, S. S. Anand, N. Eriksson, H. Gerstein, S. R. Mehta, S. J. Connolly, L. Rose, P. M. Ridker, L. Wallentin, D. Chasman, S. Yusuf, G. Pare.

703W   Influence of CYP4F2 on dose, anticoagulation control and risk of hemorrhage among African American and European American warfarin users. A. Shendre, T. M. Beasley, D. A. Nickerson, N. A. Limdi.

704W   A mechanism for docetaxel-induced neutropenia: The role of Cwc27. T. Wiltshire, C. S. Benton, F. Muhale, O. Suzuki, A. Frick, O. J. Trask, R. Thomas, S. Cai, H. L. McLeod.

705W   ABCB1 rs3842 polymorphism affects tacrolimus pharmacokinetics during the first week after liver transplantation in Chinese. J. Shi, C. Zhang, D. Chen, J. Fan, K. Zhang, Z. Peng, W. Huang.

706W   Effect of APOE genotype on response to donepezil and placebo in subjects with mild-to-moderate Alzheimer’s dementia. D. P. King, J. F. Waring, Q. Tang, W. Z. Robieson, U. Das, J. Dubow, S. Dutta, G. J. Marek, L. M. Gault.

707W   The role of multidrug resistance-1 variants in response to atorvastatin among Jordanians. K. H. Alzoubi, O. F. Khabour, S. A. Al-azzam.

708W   Association of ABCB1, SLC15A1, CES1 and NEU2 gene polymorphisms with side effects by oseltamivir in a Mexican population. M. Bermudez de Leon Sr., R. N. Gonzalez-Ríos, R. A. Leyva-Parra, E. González-González, A. Alvarado-Díaz, O. E. Vázquez-Monsiváis, V. L. Mata-Tijerina, B. L. Escobedo-Guajardo, M. J. Currás-Tuala, M. E. Aguado-Barrera, B. Silva-Ramírez, J. M. Alcocer-González, A. M. Salinas-Martínez.

709W   PGRN network-wide project: Transcriptome analysis of pharmacogenes in human tissues. E. R. Gamazon, C. E. French, S. W. Yee, A. Chhibber, X. Qin, E. Theusch, A. Webb, A. Konkashbaev, S. Weiss, S. E. Brenner, S. E. Scherer, N. J. Cox, K. M. Giacomini, on behalf of PGRN RNASeq Group.

710W   Systematical functional characterization of CYP2D6 alleles in the Chinese Han population. S. Qin, Q. Xu, Z. Wu, L. He.

711W   A pharmacogenomic study of inhaled short-acting beta-agonist response in African American individuals identifies SPATA13-AS1. B. Padhukasahasram, J. J. Yang, A. M. Levin, M. Yang, E. G. Burchard, R. Kumar, P. Kwok, D. E. Lanfear, L. K. Williams.

712W   Genome-wide analysis of methotrexate pharmacogenomics in rheumatoid arthritis reveals novel risk variants and leads for TYMS regulation. B. K. Thelma, S. Senapati, S. Singh, M. Das, A. Kumar, R. Gupta, U. Kumar, S. Jain, R. C. Juyal.

713W   Using neuroimaging endophenotypes to identify molecular markers for treatment response to major depressive disorder. T. Carrillo-Roa, C. A. Lareau, C. L. McGrath, B. W. Dunlop, M. E. Kelley, E. B. Binder, H. S. Mayberg.

714W   Genome-wide association study loci are enriched for clinically relevant drugs targets for common human diseases. R. Li, V. Forgetta, O. Yu, Z. Dastani, M. Lathrop, J. B. Richards.

715W   Conditional analysis using HLA-A*31:01 as a covariant to detect additional genetic risk factors for carbamazepine-induced cutaneous adverse drug reactions in Japanese population. T. Ozeki, T. Mushiroda, A. Takahashi, M. Kubo, Y. Shirakata, Z. Ikezawa, M. Iijima, T. Shiohara, K. Hashimoto, Y. Nakamura.

716W   Whole genome association study identifies novel antidepressant response loci for the treatment of obsessive-compulsive disorder with selective serotonin re-uptake inhibitors. H. D. Qin, Y. Wang, M. A. Grados, M. A. Riddle, B. D. Greenberg, J. A. Knowles, A. J. Fyer, J. T. McCracken, D. L. Murphy, S. A. Rasmussen, B. Cullen, J. Piacentini, D. Geller, D. Pauls, E. Stewart, O. J. Bienvenu, Y. Chen, F. S. Goes, B. Maher, J. F. Samuels, G. Nestadt, Y. Y. Shugart.

717W   Integrative genome modeling reveals common genetic architecture of neuropathy resulting from distinct environmental exposures. H. E. Wheeler, C. Wing, M. Komatsu, S. Delaney, E. R. Gamazon, C. Rodriguez-Antona, N. J. Cox, M. E. Dolan.

718W   Genetic variants associated with elevated triglyceride levels in patients with genotype 2/3 chronic hepatitis C treated with cyclophilin inhibitor alisporivir. Y. Li, M. Healey, M. Waldvogel, N. Hartmann, G. Nabel, L. Li, F. Staedtler, W. Zhang, C. A. Brass, N. V. Naoumov, K. J. Johnson, B. Li.

719W   Variants of the cysteinyl leukotriene 1 and 2 genes are additively associated with atopy in a founder population. M. Thompson, J. Stankova, V. Capra.

720W   Identification of expression quantitative trait locus associated with drug biotransformation. H.-C. Yang, C.-W. Chen.

721W   Genome-wide association study of combined paclitaxel and carboplatin treatment-induced severe neutropenia/leucopenia for patients in Biobank Japan. S. Low, S. Chung, A. Takahashi, T. Mushiroda, M. Kubo, Y. Nakamura.

722W   Expression of Mx1, OAS1, PKR and TP53 — Interferon stimulated genes during treatment of hepatitis C patients. B. Swiatek, I. Bereszynska, D. Januszkiewicz-Lewandowska, J. Wysocki, I. Mozer-Lisewska, A. Kowala-Piaskowska, J. Rembowska, J. Nowak.

723W   Analysis of the CYP3A4, CYP3A5, CYP2C9, CYP2C19 and CYP2D6 polymorphism in Nayarit population: Involvement in drug metabolism. L. E. Wong-Ley, A. B. Martinez Rizo, J. B. Velázquez Fernández, V. Mondragón Jaimes, A. Y. Bueno Durán, A. Zambrano Parra, F. J. Medrano Valenzuela.

724W   Can IL28B polymorphism identify patients who achieve early virological response during treatment of hepatitis C? J. Nowak, B. Swiatek, J. Wysocki, I. Bereszynska, A. Kowala-Piaskowska, I. Mozer-Lisewska, J. Rembowska, D. Januszkiewicz-Lewandowska.

725W   Effect of genetically tailored statin therapy on health behaviors and outcomes: A pilot study in the primary care setting. J. H. Li, S. V. Joy, S. B. Haga, L. A. Orlando, W. E. Kraus, G. S. Ginsburg, D. Voora.

726W   Incidental pharmacogenetic variants identified by massively parallel sequencing in the ClinSeq® study. D. Ng, J. J. Johnston, K. L. Lewis, S. G. Gonsalves, W. Newman, P. D. Stenson, D. N. Cooper, M. Vemulapalli, J. C. Mullikin, L. G. Biesecker, NIH Intramural Sequencing Center.

727W   High throughput scaling and performance assessment of gene panel capture with molecular inversion probes. L. S. Felker, A. Gordon, M. B. Beightol, T. Shaffer, D. R. Crosslin, J. D. Smith, D. A. Nickerson.

728W   Pharmacogenetic genotyping of clinical specimens using next-generation sequencing. S. M. Jacobs-Helber, T. Reynolds.

729W   Development of a scoring tool to prioritize clinical pharmacogenomic testing. S. Manzi, Clinical Pharmacogenomics Oversight Committee.

730W   Assessment of the predictive effect of genetic variation in key genes associated with drug therapy of cardiovascular diseases in the Azores Islands (Portugal). L. Mota-Vieira, M. S. Melo, L. Balanco, R. Cabral, C. C. Branco, T. Pereirinha.

731W   Sequence-based characterization of ADME variation in two Northeast Asian and 19 1000 Genomes Project populations. D. H. Hovelson, Z. Xue, M. Zawistowski, M. G. Ehm, S. Stocker, A. Gross, I. J. Jang, I. Ieiri, J. E. Lee, L. R. Cardon, S. L. Chissoe, G. Abecasis, M. R. Nelson.

732W   The CYP2C19*17 variant is not independently associated with clopidogrel response. J. Lewis, S. Stephens, R. Horenstein, J. O'Connell, K. Ryan, C. Peer, W. Figg, S. Spencer, M. Pacanowski, B. Mitchell, A. Shuldiner.

733W   A pharmacogenomic approach to targeted medicine. A. Albayrak, J. D. Hogan, A. P. Peter, B. R. Braun, F. D. G. Schacherer.

734W   Exome sequencing of asthmatics with extreme corticosteroid response. Q. L. Duan, M. H. Cho, R. Kelly, W. Qiu, E. R. Mardis, E. R. Bleecker, D. A. Meyers, G. A. Hawkins, S. P. Peters, J. J. Lima, K. G. Tantisira, S. T. Weiss.

735W   Two-hit models of disease risk in drug-induced liver injury. J. I. Goldstein, E. T. Lim, H. Huang, S. Raychaudhuri, C. Stevens, P. I. W. de Bakker, M. I. Lucena, A. K. Daly, M. R. Nelson, A. Holden, B. M. Neale, M. J. Daly, International Severe Adverse Events Consortium.

736W   Pharmacogenomics of glucuronidation in American Indians: The Strong Heart Family Study. P. E. Melton, N. Franceschini, K. Haack, C. Bizon, E. T. Lee, J. G. Umans, L. G. Best, S. A. Cole, L. A. Almasy.

737W   Primary action of clozapine exposure on activation of SREBP-controlled lipogenic gene expression may explain benefit and detriment. J. S. A. de With, T. Wang, E. Strengman, S. de Jong, W. G. Staal, R. A. Ophoff.

738W   A phenome-wide association study of ADME core variants in an EMR-linked biobank. M. T. Oetjens, J. C. Denny, N. B. Gillani, M. Herrera, L. Olson, H. H. Dilks, D. M. Richardson, E. Bowton, D. M. Roden, D. C. Crawford.

739W   Swedegene: Genome-wide association studies of adverse drug reactions. M. Wadelius, N. Eriksson, Q. Ying-Yue, E. Eliasson, H. Melhus, P. Hallberg.

740W   Pharmacogenetics at NCBI. A. J. Malheiro, W. Rubinstein, B. Kattman, J. Lee, D. Maglott, V. Hem, M. Ovetsky, G. Song, K. Katz, C. Wallin, R. Villamarin, J. Ostell.

741W   AlleleTyper Software: A flexible application for mapping SNP genotype and CNV data patterns to pharmacogenetic allele nomenclature. T. Hartshorne, N. Mehmet, E. Shelton, H. Leong.

742W   Genetic ancestry modifies effects of naltrexone on smoking cessation in African Americans: An analysis of a randomized controlled trial. A. P. Bress, C. Wing, A. King, R. Kittles.

743W   Assessment of viability of human lymphocytes exposed to ionizing radiation and curcumin. B. Gonzalez, C. Monterrubio, H. Pimentel, R. Silva, L. Rodríguez, C. Barba, N. Pérez, B. Inda, J. Vidal, E. Flores, H. Reyes, L. Bobadilla, A. Corona.


Complex Traits and Polygenic Disorders

 

744W   Fine-mapping classical HLA variation associated with ankylosing spondylitis susceptibility. A. Cortes, S. L. Pulit, P. I. W. de Bakker, M. A. Brown, International Genetics of Ankylosing Spondylitis Consortium.

745T   Mapping an otitis media gene within an indigenous population: Evidence for locus heterogeneity. E. M. Cutiongco-de la Paz, G. T. Abes, M. R. T. Reyes-Quintos, C. M. Chiong, M. L. Tantoco, M. C. Garcia, E. G. Llanes, T. L. Gloria-Cruz, A. L. Chan, J. W. Belmont, S. M. Leal, R. L. P. Santos-Cortez.

746F   Candidate-gene association study of pain crisis rate in sickle cell anemia patients. G. Galarneau, G. Lettre.

747W   Genetic linkage analysis and candidate gene approach in inbreed Puerto Rican families with congenital scoliosis. J. E. Baez, J. C. Orengo, E. Suarez, C. Burgos, V. Franceschini, A. S. Cornier.

748T   Gene polymorphisms as risk factor for early primary osteoarthritis of the knee in Asian Indians. S. Poornima, K. Subramanyam, Q. Hasan.

749F   Prevalence of specific cell adhesion molecule gene polymorphisms in recurrent aphthous stomatitis. A. Alkhateeb, J. Karasneh, H. Abbadi, A. Hassan, M. Thornhill.

750W   Role of the DIVERSIN gene in neural tube defects in humans. R. Allache, P. De Marco, E. Merello, V. Capra, Z. Kibar.

751T   Epistatic interactions between SNPs in PHF11 and IFNG genes increase risk to allergic phenotypes. A. K. Andiappan, K. J. Puan, W. S. Yeo, B. T. Lee, R. Melchiotti, M. Poidinger, D. Y. Wang, O. Rotzschke, F. T. Chew.

752F   Associations of FOXO3A and human lifespan in the Long Life Family Study. H. T. Bae, A. B. Newman, J. S. Sanders, T. T. Perls, P. Sebastiani.

753W   Association of endothelial nitric oxide synthase gene polymorphisms (-786T>C, 894G>T and 4a/b) with T2D and its complications (CAD and ESRD). A. J. S. Bhanwer, P. Raina, R. Kaur, K. Matharoo.

754T   Contribution of FTO (rs9939609), PON1 (rs705379) and SLC6A4 (5-HTTLPR) genes with the genetic risk for obesity in children from Yucatan, Mexico. L. Gonzalez-Herrera, M. J. Lopez-Gonzalez, Z. Carballo-Cardeńa, G. Perez-Mendoza, N. Mendez-Dominguez, D. Pinto-Escalante.

755F   Polymorphisms in IL12, NOD1, and TLR pathway genes associated with tuberculosis disease and resistance to M. tuberculosis infection. N. B. Hall, R. P. Igo, L. L. Malone, F. Qiu, A. Schnell, S. Zalwango, T. R. Hawn, H. Mayanja-Kizza, W. H. Boom, C. M. Stein, Tuberculosis Research Unit (TBRU).

756W   Mannose-binding lectin (MBL2) gene variations and malaria risk in Indian populations. A. N. Jha, P. Sundaravadivel, L. Singh, T. P. Velavan, K. Thangaraj.

757T   Cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene and Graves disease: Case-control study. Y. Lee, C. Huang, W. Ting, F. Lo, C. Lin, Y. Wu, M. Chien, C. Wang, W. Chen, W. Lin, S. Chang, C. Lin.

758F   Variation near the CETP gene strongly associated with HDL levels shows a sex-specific association with type 2 diabetes in Pima Indians. A. K. Nair, A. Malhotra, R. L. Hanson, S. Kobes, W. C. Knowler, C. Bogardus, L. J. Baier.

759W   Identification of genes that contribute to diabetic nephropathy in type 2 diabetes through family-based association testing of genetic variants detected by targeted exome sequencing. M. G. Pezzolesi, J. Jeong, A. M. Smiles, J. Skupien, J. C. Mychaleckyj, S. S. Rich, J. H. Warram, A. S. Krolewski.

760T   Imputation of Turkish population genotypes using immunochip data and 1000 Genomes reference reveals Behçet’s disease association of SNPs in the EGR2 locus. E. F. Remmers, M. Takeuchi, D. Ustek, N. Mizuki, I. Tugal-Tutkun, E. Seyahi, Y. Őzyazgan, A. Gül, D. L. Kastner.

761F   Interrogating the PBX-WNT-TP63 pathway in human nonsyndromic cleft lip/palate. R. Silva, A. Letra, L. Maili, J. B. Mulliken, S. Slifer, S. H. Blanton, J. T. Hecht.

762W   Genetic heterogeneity of midline facial defects with ocular hypertelorism. M. Simioni, E. L. Freitas, I. Lopes-Cendes, V. L. Gil-da-Silva-Lopes.

763T   Analysis of candidate gene sequences in suicide severity. C. C. Zai, V. Goncalves, A. K. Tiwari, V. de Luca, J. B. Vincent, J. L. Kennedy.

764F   Targeted sequencing of 100 psoriasis candidate loci in 4,845 samples of European descent. M. Zawistowski, P. Stuart, L. Tsoi, Y. Li, E. Ellinghaus, V. Chandran, T. Tejasvi, C. Helms, K. Callies Duffin, M. Weichenthal, J. J. Voorhees, A. M. Bowcock, P. Rahman, A. Franke, G. G. Krueger, D. D. Gladman, R. P. Nair, H. M. Kang, G. R. Abecasis, J. T. Elder.

765W   Admixture mapping of uterine leiomyomata in the African American population. K. Zhang, H. Wiener, B. Aissani.

766T   Characterizing genetic risk factors of obesity in a coronary artery disease cohort. S. G. Gregory, L. K. Kwee, E. Grass, C. Haynes, N. Stitziel, S. Kathiresan, E. R. Hauser, W. E. Kraus, S. H. Shah.

767F   Discovery and fine-mapping of BMI loci using Metatochip: A trans-ethnic meta-analysis from the Population Architecture using Genomics and Epidemiology (PAGE) Study. J. Gong, F. Schumacher, L. Hindorff, U. Lim, J. Haessler, C. Carlson, S. Rosse, P. Bůžková, R. Cooper, G. Ehret, C. Gu, M. Irvin, M. Graff, L. Fernandez-Rhodes, E. Boerwinkle, T. Matise, L. Marchand, C. Kooperberg, D. Crawford, C. Haiman, K. North, U. Peters, Population Architecture using Genomics and Epidemiology (PAGE) Study.

768W   Fine-mapping type 2 diabetes susceptibility loci with the Metabochip. A. P. Morris, T. M. Teslovich, T. Ferreira, A. Mahajan, Y. Lee, N. W. Rayner, H. Chheda, L. Eisele, M. Franberg, H. Grallert, T. Green, S. Gustafsson, H. A. Kestler, B. Sennblad, T. Sparso, R. J. Strawbridge, D. Thuillier, L. Yengo, R. Mägi, I. Prokopenko, C. N. A. Palmer, D. Altshuler, M. Boehnke, M. I. McCarthy, on behalf of DIAGRAM Consortium.

769T   GTF2IRD1 is an epigenetic regulator involved in facial skin patterning that may underpin facial abnormalities of William-Beuren syndrome patients. C. P. Canales, S. Corley, P. Kaur, I. Smyth, M. Wilkins, E. C. Hardeman, S. J. Palmer.

770F   Probabilistic method with correction for imputation error improves fine-mapping resolution. B. Pasaniuc, G. Kichaev, N. Zaitlen, G. Bhatia, E. Kostem, F. Hormozdiari, E. Eskin, A. L. Price.

771W   The association of common SNPs with cholesterol and lipid levels in Latvian population. J. Klovins, I. Radovica, D. Fridmanis.

772T   Genetic variation and lumbar spine bone mineral density in National Health and Nutrition Examination Survey 1999-2002. J. McLean, A. Yesupriya, T. Fakhouri, Y.-H. Hsu, D. Kiel, A. Looker.

773F   Polymorphisms of DNA leading to increased susceptibility for type 2 diabetes in South Asians: A systematic review and meta-analysis. Z. N. Sohani, W. Q. Deng, S. S. Anand.

774W   Assessment of cytochrome P450 genetic variability on methadone dose and tolerance. H. Tsai, S. Wang, S. Liu, I. Ho, Y. Chang, C. Chen, K. Lin, A. Chen, Y. Liu.

775T   Mapping expression quantitative traits in mesenchymal stem cell cultures derived from nonsyndromic cleft lip and palate patients’ orbicularis oris muscle. C. Masotti, A. C. Nica, S. Ferreira, L. Bomilcar, D. Meyer, D. Y. Sunaga, D. F. Bueno, N. Alonso, D. Franco, E. Dermitzakis, M. R. Passos-Bueno.

776F   Variations in ORAI1 gene associated with Kawasaki disease. Y. Onouchi, R. Fukazawa, K. Ozaki, M. Terai, H. Hamada, T. Honda, H. Suzuki, T. Suenaga, T. Takeuchi, K. Yasukawa, R. Ebata, K. Higashi, T. Saji, Y. Kemmotsu, S. Takatsuki, K. Ouchi, F. Kishi, T. Yoshikawa, T. Nagai, K. Hamamoto, Y. Sato, J. Abe, M. Seki, T. Kobayashi, A. Takahashi, T. Tsunoda, M. Kubo, Y. Nakamura, A. Hata, T. Tanaka.

777W   Elucidation of auto-antibody profiles and genetic risk alleles associated with antinuclear antibody positive fraction of healthy population. P. Raj, L. Wang, Q.-Z. Li, D. Karp, I. Dozmorov, N. Olsen, K. M. Sivils, J. A. James, J. A. Kelly, B. Lauwerys, P. K. Gregersen, E. K. Wakeland.

778T   Meta-analysis followed by replication identifies novel genetic variants in X chromosome associated with systemic lupus erythematosus in Asians and analysis of genetic differences between male and female cases. J. Yang, Y. Zhang, W. Yang, Y. L. Lau.

779F   Variable set enrichment analysis of exome sequencing data reveals interesting candidate genes for left ventricular hypertrophy. W. Yang, U. Broeckel, A. J. Stoddard, D. Zhi, M. R. Irvin, H. K. Tiwari, S. C. Hunt, D. C. Rao, D. K. Arnett, C. C. Gu.

780W   Novel IRF6 mutations in families with van der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. A. Butali, P. A. Mossey, W. L. Adeyemo, M. A. Eshete, L. A. Gaines, R. O. Braimoh, S. B. Aregbesola, R. Rigdon, C. I. Emeka, O. James, M. O. Ogunlewe, A. L. Ladeinde, A. Fikre, M. Ibrahim, E. G. Paul, A. A. Adeyemo, J. C. Murray.

781T   A replication study for four keloid loci at 1q41, 3q22.3-23 and 15q21.3 in the Japanese population. A. Watanabe, R. Ogawa, M. Sasaki, A. Fujita, B. T. Naing, S. Akaishi, H. Hyakusoku, T. Shimada.

782F   Identification of potentially causative variants underlying triglyceride levels. S. M. Raj, A. Coventry, C. Ballantyne, C. F. Sing, R. Gibbs, E. Boerwinkle, A. G. Clark.

783W   The contribution of regulatory variation to facial masculinity in humans. A. A. Zaidi, P. Claes, W. Yao, K. Daniels, M. D. Shriver.

784T   Genetic associations with high-grade dyaplasia and colorectal cancer in patients with colonic inflammatory bowel disease: Preliminary results from ImmunoChip using a targeted analytic approach. J. Knight, M. Waterman, J. M. Stempak, K. Krishnaprasad, I. Cleynen, L. P. Schumm, S. Vermeire, D. P. McGovern, S. R. Brant, G. Radford-Smith, M. S. Silverberg, International IBD Genetic Consortium.

785F   Association of genetic variations in anti-inflammatory cytokine pathway genes in the outcome of tuberculosis. S. Aggarwal, S. Ali, R. Chopra, A. Srivastava, R. N. K. Bamezai.

786W   Assessing genetic association and gene-gene interaction between PTPN22 and CSK for SLE susceptibility in Asians. X. R. Kim-Howard, C. Sun, A. Adler, S. C. Bae, S. K. Swapan.

787T   Correlation between SNPs within the MHC region and immune responsiveness to childhood vaccinations. Y. A. Talzhanov, B. Yucesoy, V. J. Johnson, N. W. Wilson, R. E. Biagini, W. Wang, B. Frye, D. N. Weissman, D. R. Germolec, M. I. Luster, M. M. Barmada.

788F   The CTLA4 gene and severe bacterial infections. H. Chi, N. C. Chiu, F. Y. Huang, S. C. Chang, W. F. Chen, W. S. Lin, C. L. Lin, Y. J. Lee.

789W   Association of Toll-like receptor 4 with otitis media in the Finnish population. E. Einarsdottir, L. Hafrén, E. Kentala, E. Leinonen, J. Kere, P. S. Mattila.

790T   Multiple eQTLs of TNFSF8 are associated with pathological immune responses in leprosy. V. M. Fava, A. Cobat, V. T. Nguyen, N. N. Ba, M. Orlova, J. Manry, A. C. P. Latini, M. M. A. Stefani, M. Mira, V. H. Thai, L. Abel, A. Alcais, E. Schurr.

791F   Immunogenetic role of mannan-binding lectin in Indian visceral leishmaniasis. A. Mishra, A. Nath Jha, H. V. Tong, L. Singh, T. P. Velavan, K. Thangaraj.

792W   Association of single nucleotide polymorphisms in the gene coding for the lens epithelium-derived growth factor (LEDGF/p75) with the outcome of HIV infection in Brazilian HIV+ patients. C. P. B. Passaes, C. C. Cardoso, D. G. Caetano, S. L. M. Teixeira, M. L. Guimarăes, D. P. Campos, V. G. Veloso, M. O. Moraes, M. G. Morgado.

793T   Identification of genetic susceptibility loci for dengue shock syndrome at the PLCE1 gene using a targeted re-sequencing approach. E. Png, T. N. Chau, N. M. Nguyet, D. T. Kien, N. T. Quyen, D. T. Trung, J. Pang, B. Wills, N. Van Vinh Chau, C. C. Khor, C. P. Simmons, M. L. Hibberd.

794F   Nha Trang Birth Cohort Study: A population-based study for the identification of phenotype expression of genetic risk factors for childhood infectious diseases in Vietnam. M. Yasunami, R. Miyahara, L.-M. Yoshida, H. Nakamura, K. Takahashi, D. T. Vu, X. M. Trinh, T. C. Bui, D. A. Dang, H. T. Le, K. Ariyoshi.

795W   Systematic characterization of allelic architecture at the non-coding type 2 diabetes locus 9p21 using haplotype analysis in complete sequence data, imputation, and functional testing. V. Agarwala, J. Wright, J. Flannick, A. Morris, M. Rasmussen, A. Mahajan, H. Kang, C. Fuchsberger, M. Kellis, M. Boehnke, M. McCarthy, D. Altshuler, GoT2D Consortium.

796T   A reliable algorithm for identifying modifier genes and the mutants who carry them in family-based studies of complex disorders. P. Belleau, S. Dubois, S. Desjardins, R. Arsenault, E. Shink, J. L. Anctil, G. Côté, M. A. Walter, M. A. Amyot, V. Raymond.

797F   Fine-mapping of type 2 diabetes susceptibility loci via trans-ethnic meta-analysis. M. Horikoshi, J. R. Huyghe, F. Takeuchi, A. Mahajan, J. Asimit, E. Zeggini, N. Kato, Y. Y. Teo, A. P. Morris, M. I. McCarthy, T2D-GENES.

798W   Fine mapping of inflammatory bowel disease risk loci using immunochip. H. Huang, L. Jostins, K.-K. Farh, B. Bulik-Sullivan, International IBD Genetics Consortium.

799T   Exome array analysis of rare and low-frequency variation in multiple sclerosis. M. Mitrovic, C. Cotsapas, International Multiple Sclerosis Genetics Consortium.

800F   Variations in Shank3 in Colombian individuals with autism spectrum disorders. L. Munera, P. Katherine, M. Oscar, M. Lattig, Liga Colombiana de Autismo (LICA).

801W   The role of mitochondrial variants in the risk of age-related macular degeneration in the National Health and Nutrition Examination Surveys. N. Restrepo, R. Goodloe, S. Mitchell, D. Murdock, J. Haines, D. Crawford.

802T   Fine mapping of the glucose-6-phosphate dehydrogenase (G6PD) gene in a multicentre study of severe malaria provides evidence for balancing selection. G. M. Clarke, K. A. Rockett, on behalf of MalariaGEN Consortium.

803F   Bayesian conditional analysis of 180,000 individuals for migraine reveals local genetic substructure and nine additional genes. V. Anttila, H. Huang, N. Eriksson, B. M. Neale, M. J. Daly, A. Palotie.

804W   Evidence for shared genetic loci between body mass index and menarche timing among 5,357 Hispanic/Latina women in the population architecture using genomics and epidemiology study. L. Fernández-Rhodes, C. Carty, C. Kooperberg, U. Peters, T. Matise, J. L. Ambite, E. Demerath, J. Dreyfus, M. Gross, N. Pankratz, E. Ramos, L. Hindorff, M. Daviglus, R. Kaplan, S. Castańeda, G. Heiss, U. Lim, C. Haiman, L. Le Marchand, K. E. North, N. Franceschini.

805T   A polymorphism of Interleukine-13 is associated with susceptibility to food allergy in the Japanese population. T. Hirota, M. Tamari, M. Kubo, S. Sato, M. Ebisawa, T. Imai, M. Sakashita, S. Fujieda.

806F   No association between the neuropeptide Y gene polymorphisms and smoking habit in Japanese. M. Isomura, C. Matsuda, T. Nabika.

807W   Use of eQTLs to unravel the etiology of nonsyndromic oral clefting. C. Malcher, C. Masotti, L. A. Brito, C. F. S. Bassi, A. G. Morales, S. G. Ferreira, D. F. Bueno, G. S. Kobayashi, N. Alonso, M. R. Passos-Bueno.

808T   ECM remodelling genes in intracranial aneurysm: A south Indian perspective. S. Sathyan, L. Koshy, H. Easwer, S. Premkumar, J. P. Alapatt, M. Banerjee.

809F   Common variants associated with normal tension glaucoma are also associated with glaucoma in exfoliation syndrome. D. Wang, B. Fan, H. Levkovitch-Verbin, l. Pasquale, J. Haines, J. Wiggs.

810W   Alternatively spliced isoform expression of PTPN2 in rheumatoid arthritis. M. Houtman, K. Shchetynsky, L. Padyukov.

811T   Comparative analysis of eQTL structures in chronic obstructive pulmonary disease and genotype-tissue expression. T. Huang, Q. Long, B. Zhang, S. Yoo, J. Zhu, Z. Tu, GTEx Consortium.

812F   Phenotypic analysis of peptidylarginine deiminase type 4 knockout mice. A. Suzuki, Y. Kochi, H. Shoda, K. Fujio, R. Yamada, K. Yamamoto.

813W   Defective PGRN gene expression in two patients with frontotemporal dementia (FTLD) with potential decreased mRNA stability due to exon 6 PGRN deletion G.101349_101355delCTGCTGT associated with familial FTLD. E. Vitale, A. Iuliano, A. Polverino, G. Milan, S. Pappata', P. Sorrentino, A. Postiglione, V. Alesi, A. Novelli, G. Sorrentino.

814T   Biomarkers and perinatal risk factors in autism spectrum disorder. H. Xu, H. Wang, Q. Dai, A.-Q. Zhou, M.-R. Wu, X.-Y. Wang.

815F   Analysis of DNA-protein interactions using nuclear extracts around the -224 A/G single nucleotide polymorphism in the neuropeptide receptor Y2 (NPY2R) gene in predisposition to hypertension. E. Albino, A. Nuńez, J. Dutil.

816W   Experimental assessment of the function of disease-associated genetic variants. P. An, A. McLenithan, S. Johnson, S. Limou, C. A. Winkler.

817T   Generation of CLEC16A inducible knockout mouse as a novel model to study the pivotal role of NK cells in the pathogenesis of type 1 diabetes. M. Bakay, M. Rankin, S. Yoeun, J. Kushner, H. Hakonarson.

818F   Genetic polymorphism and pathophysiology in patients with vitiligo. S. Chettiar, K. Mistry, P. Agarwal, A. Patel, D. Jhala, D. Umarigar, R. Uppala.

819W   Allele-specific regulation of DISC1 expression by miR-135b-5p. I. Hovatta, M. Rossi, H. Kilpinen, M. Muona, I. Surakka, C. Ingle, W. Hennah, S. Ripatti.

820T   CELSR1 mutations are associated with human spina bifida. Y. Lei, H. Zhu, W. Yang, M. Ross, G. Shaw, R. Finnell.

821F   Functional impact of polymorphisms in the MMP3 and TIMP2 gene promoters in human nonsyndromic cleft lip/palate. A. Letra, M. Zhao, R. M. Silva, A. R. Vieira, J. T. Hecht.

822W   Indian Hedgehog (IHH) and LRBA: New genes for Hirschsprung disease. R. M. W. Hofstra, Y. Sribudiani, R. Chauhan, M. Alves, C. Kockx, T. van Essen, R. Brouwer, M. van den Hout, W. van Ijcken, I. T. Shepherd, A. S. Brooks.

823T   Genes located in type 1 diabetes risk loci are expressed in human islet and interact in functional networks. C. A. Brorsson, J. Stoerling, F. Pociot.

824F   Elucidating the genetics of type 2 diabetes by integrative analysis of the genome, transcriptome and epigenome of skeletal muscle and adipose tissue samples from Finnish individuals spanning the range of glucose tolerance. J. R. Huyghe, S. C. Parker, M. R. Erdos, H. Koistinen, P. S. Chines, H. M. Stringham, L. J. Scott, L. Taylor, T. Blackwell, H. Jiang, C. Ma, A. U. Jackson, R. Welch, N. Narisu, A. J. Swift, L. L. Bonnycastle, M. L. Stitzel, L. Kinnunen, R. M. Watanabe, T. Lakka, M. Laakso, J. Tuomilehto, F. S. Collins, M. Boehnke.

825W   Altered expression of ARAP1, at a type 2 diabetes GWAS locus, influences insulin secretion from pancreatic beta cells. J. R. Kulzer, M. P. Fogarty, K. L. Mohlke.

826T   The widely presumed type 2 diabetes causal variant, rs7903146, within TCF7L2 binds a specific protein complex not seen with its closest non-causal proxy. Q. Xia, S. Deliard, C. X. Yuan, M. E. Johnson, S. F. A. Grant.

827F   A role for IRF6 in cell cycle regulation and DNA damage response in mesenchymal stem cells. G. S. Kobayashi, L. Alvizi, B. V. P. Almada, L. C. Andrade-Lima, C. F. Menck, M. R. Passos-Bueno.

828W   Novel regulatory variants in family studies with adult chronic atopic dermatitis. W. B. Jones, T. C. Pansuriya, K. J. Gulewicz, I. Oh, B. Borgo, A. Shemer, J. G. Krueger, E. Guttman-Yassky, C. de Guzman Strong.

829T   Meta-analysis on eQTL mapping identify insertion and deletion specific eQTLs in LCL, PBMC and skin tissues. J. Huang, J. Chen, J. Esparza, J. Ding, J. Elder, Y. Lee, M. Moffatt, W. Cookson, L. Liang.

830F   Integrative genomics approach to unravel the molecular mechanisms underlying genome-wide association results for lung function measures. M. Obeidat, K. Hao, Y. Bossé, D. Nickle, D. Postma, M. Laviolette, A. Sandford, D. Daley, C. Brandsma, M. Berge, R. Vessey, G. Opitec, W. Timens, D. Sin, P. Paré.

831W   Identifying the molecular mechanisms at the vascular PLXND1 locus associated with human waist-hip ratio. T. S. Roman, J. E. N. Minchin, J. F. Rawls, K. L. Mohlke.

832T   Genome-wide enrichments for regulatory regions across thousands of unlinked disease-associated variants. A. K. Sarkar, L. Ward, M. Kellis.

833F   Enabling phenomics with high-throughput whole-organism 3D pan-cellular imaging at cell resolution. K. Cheng, P. La Riviere.

834W   Genetic variants and regulation in human complex diseases and traits. C. Yao, R. Joehanes, A. D. Johnson, B. Chen, T. Huan, J. E. Freedman, P. J. Munson, D. Levy.

835T   READ1, a regulatory element within DCDC2, epistatically affects reading and language with both deleterious and protective alleles. N. R. Powers, J. D. Eicher, Y. Kong, L. L. Miller, S. M. Ring, J. R. Gruen.

836F   A computational framework for identifying genes perturbed by MS associated variants through regulatory element disruption. P. Shooshtari, C. Cotsapas.

837W   TNF-β Nco1 polymorphism and sepsis susceptibility following major elective surgery. R. N. Srivastava, K. Baghel, S. Raj, A. Chandra, S. K. Goel.

838T   Genetic variation in the serotonin receptor gene affects immune responses in rheumatoid arthritis. E. Hesselberg, O. Snir, P. Amoudruz, L. Klareskog, I. Zarea-Ganji, A. I. Catrina, L. Padyukov, V. Malmström, M. Seddighzadeh.

839F   Regulation by the asthma susceptibility gene DENND1B of Rab35 and TNFα signaling. M. E. March, P. M. A. Sleiman, C. Hou, J. Bradfield, C. E. Kim, J. T. Glessner, H. Hakonarson.

840W   Mild deficiency of methylenetetrahydrofolate reductase (MTHFR) increases resistance to malaria in mice. D. N. Meadows, M. Pyzik, Q. Wu, S. Torre, P. Gros, S. Vidal, R. Rozen.

841T   In vivo modeling of genetic mechanisms associated with sickle cell disease nephropathy. B. R. Anderson, E. E. Davis, M. J. Telen, A. E. Ashley-Koch.

842F   Evolution and functional genomics of host-pathogen interaction in Crohn’s disease. B. M. P. Bowen, W. Zhang, K. Hui, J. H. Cho, TAGC.

843W   Identification of a regulatory variant that binds a transcriptional activator complex including FOXA1 and FOXA2 at the CDC123/CAMKD type 2 diabetes GWAS locus. M. P. Fogarty, S. Vadlamudi, M. E. Cannon, K. J. Gaulton, K. L. Mohlke.

844T   Gene-gene interaction and RNA splicing profiles of MAP2K4 gene in rheumatoid arthritis. K. Shchetynsky, M. Roninnger, D. Protsyuk, L. Klareskog, L. Padyukov.

845F   A polymorphism in human estrogen-related receptor beta associated with physiologic measures of noise-induced hearing loss. I. Bhatt, S. Phillips, S. Richter, R. Morehouse, D. Tucker, K. Lundgren, V. Henrich.

846W   Genetic risk variants for autoimmune diseases regulate gene expression in thymus. I. S. M. Gabrielsen, S. Svanstrřm Amundsen, H. Helgeland, S. Tennebř Flĺm, N. Hatinoor, K. Holm, M. K. Viken, B. A. Lie.

847T   The apical sodium-dependent bile acid transporter ASBT (SLC10A2) affects the progression of primary biliary cirrhosis in Japanese patients via its transcriptional activity. K. Taira, T. Inamine, A. Kawauchi, S. Kondo, M. Nakamura, K. Tsukamoto.

848F   Comprehensive functional assays for variants of unknown significance. J. O. Kitzman, L. Starita, R. Lo, R. Qiu, S. Fields, J. Shendure.

849W   Expression of two genes from the candidate locus of chromosome X in rheumatoid arthritis and systemic sclerosis. L. M. Diaz-Gallo, K. Shchetynsky, A. Nordin, A. I. Catrina, J. Martín, L. Padyukov.

850T   An enhancer element harboring variants associated with systemic lupus erythematosus engages the TNFAIP3 promoter to influence A20 expression. S. Wang, F. Wen, G. B. Wiley, M. T. Kinter, P. M. Gaffney.

851F   Gene-gene interactions of EG-VEGF, PKR1 and PKR2 genes and the risk of recurrent miscarriages. M. Su, P. Kuo, S. Lin.

852W   Gene-asbestos exposure interactions on lung cancer risk. C. Liu, I. Stücker, C. Chen, G. Goodman, M. K. McHugh, A. M. D’Amelio, C. J. Etzel, S. Li, X. Lin, D. C. Christiani.

853T   RBMS1 genotype strongly influences adiposity and liver function in rural but not urban dwellers. M. E. S. Bailey, C. A. Celis-Morales, M. Staunton, N. Ulloa, C. Calvo, F. Perez-Bravo, J. M. R. Gill.

854F   Gene-lifestyle interaction and type 2 diabetes. R. A. Scott, on behalf of InterAct Consortium.

855W   Gene carbohydrate and gene fiber interactions and type 2 diabetes in diverse populations from the National Health and Examination Surveys as part of the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study. R. Villegas, R. J. Goodloe, B. McClellan, Jr., J. Boston, D. C. Crawford.

856T   Variants in the glucagon gene are associated with baseline weight and glycemic response to metformin and intensive lifestyle interventions in the Diabetes Prevention Program. A. H. Winters, K. A. Jablonski, S. E. Kahn, W. C. Knowler, E. S. Horton, K. J. Mather, R. F. Arakaki, J. C. Florez, T. I. Pollin, DPP Research Group.

857F   Genetic and environmental influences on the age of onset of age-related macular degeneration in the Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging (GERA) cohort. L. Shen, R. Melles, S. Sciortino, D. Ranatunga, L. Walter, L. Sakoda, R. Whitmer, T. Hoffmann, M. Kvale, Y. Banda, N. Risch, C. Schaefer, E. Jorgenson.

858W   Perfect pitch in Costa Rica: Contribution of genetic and environmental factors. G. Chavarria-Soley.

859T   Interplay of genetic risk (CHRNA5) and environmental risk (partner smoking) on smoking cessation success. L. Chen, T. B. Baker, M. Munafň, L. J. Bierut.

860F   Genetic predisposition for hypertriglyceridemia is modified by extremes of adiposity. C. Cole, M. Nikpay, R. Dent, R. McPherson.

861W   Education influences the association between genetic variants and refractive error: A meta-analysis of five Singapore studies. Q. Fan, R. Wojciechowski, M. K. Ikram, C.-Y. Cheng, P. Chen, X. Zhou, C.-W. Pan, C.-C. Khor, E. S. Tai, T. Aung, T.-T. Wong, Y.-Y. Teo, S.-M. Saw.

862T   A genome-wide interaction study suggests contrasting interaction effects with smoking in ACPA-positive versus ACPA-negative rheumatoid arthritis. X. Jiang, H. Källberg, L. Ärlestig, S. Rantapää-Dahlqvist, L. Klareskog, L. Padyukov, L. Alfredsson, Swedish Epidemiological Investigation of Rheumatoid Arthritis (EIRA) Study Group.

863F   A study on genetic variation associated with visceral adipose tissue and interaction of life style on the expression of genetic variation. H. Kwon, K. Sohn, B. Cho, H. Choi.

864W   Lineages based genome-wide association analysis in tuberculosis. S. Mahasirimongkol, N. Smittipat, T. Juthayothin, T. Mushiroda, S. Wattanapokayakit, N. Wichukchinda, S. Nedsuwan, K. Dokladda, K. Rukseree, P. Billamas, P. Palittapongarnpim, B. Chaiyasirinroj, A. Chaiprasert, H. Yanai, K. Tokunaga.

865T   FTO genetic variants, dietary intake, and body mass index: Results from 177,330 individuals. Q. Qi, T. Kilpeläinen, M. Downer, T. Tanaka, C. Smith, T. Sřrense, F. Hu, R. Loos, J. Nettleton, L. Qi, FTO Gene and Dietary Intake Consortium.

866F   Genome-wide environmental interaction analysis using multidimensional data reduction principles to identify asthma pharmacogenetic loci in relation to corticosteroid therapy. F. Van Lishout, K. Bessonov, QL. Duan, K. Tantishira, K. Van Steen.

867W   Empirical comparison of multi-association for type 2 diabetes in Koean population-based cohort. J. Lee, J. Lee, S. Park, B. Kim, B. Han, S. Won.

868T   Influence of physical activity on body mass index in relation to well-replicated obesity loci in African American adults: The ARIC Study. K. L. Young, A. E. Justice, E. W. Demerath, W.-H. L. Kao, E. Boerwinkle, K. E. North, K. L. Monda.

869F   Transcriptional response to acute respiratory virus infection — A prospective cohort study. Y. Zhai, J. Belmont, R. Atmar, J. Quarles, N. Arden, K. Bucasas, J. Wells, D. Nińo, X. Wang, G. Zapata, C. Shaw, L. Franco, R. Couch.

870W   Insights into the molecular arms race between the malaria parasite and its human host from genomic analysis of over 15,000 African individuals. C. C. A. Spencer, L. S. Quang, G. Band, K. Rockett, D. Kwiatkowski, MalariaGEN.

871T   The MTHFD1 1958 G>A (R653Q) variant is associated with elevated C-reactive protein and body mass index in a Canadian premature birth cohort. K. E. Christensen, M. Dahhou, M. S. Kramer, R. Rozen.

872F   Analysis of APOE-e4 and facial profile convexity in obstructive sleep apnea. J. K. Hartsfield, J. J. Roedig, B. A. Phillips, L. A. Morford, J. E. Van Sickels, G. Falcăo-Alencar, D. W. Fardo, G. T. Kluemper.

873W   Smoking and asthma: effect modification by phospholipase C, beta 1 and peroxiredoxin 6 polymorphisms. I. Ahmed, M. Rava, M.-H. Dizier, V. Siroux, M. Kogevinas, N. Probst-Hensch, F. Demenais, P. Tubert-Bitter, R. Nadif.

874T   Pathogenic role of microRNA in pediatric asthma. X.-Y. Dong, N. Zhong.

875F   Occupational exposures to potential irritants and asthma: Effect modification by glutathione S-transferase Z1 and ATP-binding cassette transporters polymorphisms. M. Rava, I. Ahmed, O. Dumas, M. Kogevinas, N. Probst-Hensch, P. Tubert-Bitter, N. Le Moual, F. Demenais, R. Nadif.

876W   Comparative analysis of T2D risk allele load in African Americans and European Americans. J. M. Keaton, J. N. Cooke Bailey, N. D. Palmer, B. I. Freedman, C. D. Langefeld, M. C. Y. Ng, D. W. Bowden.

877T   Melanocortin 1-receptor haplotypes associated to pigmentation phenotypes in the Brazilian population. L. A. Marano, A. L. Simoes, E. A. Donadi, C. T. Mendes-Junior.

878F   The IRF5-TNPO3 association has two components in systemic lupus erythematosus, which are shared with other autoimmune disorders. L. C. Kottyan, E. Z. Zoller, K. M. Kaufam, J. B. Harley.

879W   Epiregulin (EREG) and human V-ATPase (TCIRG1) are not associated with pulmonary tuberculosis in West African populations from Guinea-Bissau and The Gambia. S. M. Williams, M. J. White, A. Tacconelli, C. Wejse, P. C. Hill, G. Novelli, G. Sirugo.

880T   Exploring genetic load of known multiple sclerosis risk alleles in Hispanic whites. J. McCauley, A. Hadjixenofontos, C. P. Manrique, A. H. Beecham, I. Konidari, P. L. Whitehead, P.-A. Gourraud, M. A. Pericak-Vance, L. Tornes, M. Ortega, K. W. Rammohan, S. R. Delgado.

881F   Genetic basis of height and skin pigmentation in Southern Africa. B. M. Henn, J. M. Granka, A. R. Martin, C. R. Gignoux, M. Lin, J. M. Kidd, E. G. Hoal, M. W. Feldman, C. D. Bustmante.

882W   Explicit modeling of genetic ancestry improves polygenic prediction accuracy. C. Chen, J. Han, D. Hunter, P. Kraft, A. Price.

883T   Powerful detection of osteoarthritis susceptibility loci by comprehensive examination of clinically important endophenotypes. K. Panoutsopoulou, S. Thiagarajah, A. G. Day-Williams, L. Southam, K. Hatzikotoulas, A. Matchan, M. Doherty, J. M. Wilkinson, E. Zeggini, arcOGEN Consortium.

884F   Two novel susceptibility loci to Takayasu arteritis and synergistic role of the IL12B and HLA-B regions in a Japanese population. C. Terao, H. Yodhifuji, A. Kimura, T. Matsumura, K. Ohmura, M. Takahashi, M. Shimizu, T. Kawaguchi, Z. Chen, T. Naruse, A. Sato-Otsubo, Y. Ebana, Y. Maejima, Y. Wada, I. Narita, Y. Kawguchi, H. Yamanaka, S. Ogawa, I. Komuro, R. Nagai, R. Yamada, Y. Tabara, M. Isobe, T. Mimori, F. Matsuda, Kyoto Univ. Takayasu Arteritis Consortium.

885W   Identification of CNVs association in saliva flow using PennCNV. M. Lee, K. T. Cuenco, X. Zheng, E. Feingold, D. E. Weeks, R. J. Weyant, R. J. Crout, D. W. McNeil, M. L. Marazita.

886T   Analysis of copy number variation on Down syndrome-associated atrioventricular septal defects. D. Ramachandran, J. Mulle, A. E. Locke, P. Bose, L. J. Bean, S. Le, T. Rosser, K. Dooley, D. J. Cutler, E. Feingold, S. Y. Cheong, C. L. Cua, G. T. Capone, C. L. Maslen, R. H. Reeves, S. L. Sherman, M. E. Zwick.

887F   Analysis of copy number variation on chromosome 21 in Down syndrome-associated congenital heart defects. B. L. Rambo-Martin, D. Ramachandran, J. Mulle, A. E. Locke, P. Bose, L. J. Bean, S. Le, T. Rosser, K. Dooley, D. J. Cutler, S. Y. Cheong, C. L. Cua, C. L. Maslen, R. H. Reeves, S. L. Sherman, M. E. Zwick.

888W   Identification of SPOCK2 as a susceptibility gene for bronchopulmonary dysplasia. A. Hadchouel, X. Durrmeyer, E. Bouzigon, R. Incitti, J. Huusko, P. H. Jarreau, R. Lenclen, F. Demenais, M. L. Franco-Montoya, I. Layouni, J. Patkai, J. Bourbon, M. Hallman, C. Danan, C. Delacourt.

889T   Dipeptidyl peptidase 10 (DPP10) is associated with severe retinopathy in type 1 diabetes. S. M. Hosseini, K. Howard, L. Sun, A. P. Boright, D. A. Tregouet, N. Sandholm, M. S. Lajer, K. Hietala, C. Forsblom, M. Marre, P. Rossing, P. H. Groop, A. J. Canty, S. Hadjadj, B. E. Klein, S. B. Bull, R. Klein, A. D. Paterson, DCCT/EDIC Research Group.

890F   Common regulatory variants mapped in human adipose and skeletal muscle but not lymphoblastoid cell lines tissue explain much of the heritability of type 2 diabetes. J. M. Torres, E. R. Gamazon, N. J. Cox.

891W   Higher BMI genetic risk score is associated with presence of radiographic knee osteoarthritis but not progression in the Osteoarthritis Initiative study. M. S. Yau, R. D. Jackson, M. C. Hochberg, S. Krishnan, D. J. Duggan, B. D. Mitchell, L. M. Yerges-Armstrong.

892T   Investigating age-related macular degeneration in the Amish. J. D. Hoffman, L. N. D'Aoust, J. N. Cooke Bailey, L. Jiang, R. Laux, A. Agarwal, W. K. Scott, M. A. Pericak-Vance, J. L. Haines.

893F   A genome-wide association study by using imputed genotypes identifies a susceptibility locus for Crohn's disease in a Japanese population. K. Yamazaki, J. Umeno, A. Takahashi, A. Hirano, T. Johnson, T. Morizono, T. Kawaguchi, M. Takazoe, T. Yamada, Y. Suzuki, H. Tanaka, S. Motoya, M. Hosokawa, Y. Arimura, Y. Shinomura, T. Matsui, T. Matsumoto, M. Iida, T. Tsunoda, Y. Nakamura, M. Kubo.

894W   Genome-wide association study identifying genetic risk loci for full-thickness rotator cuff tears. J. M. Farnham, R. Z. Tashjian, C. C. Teerlink, L. A. Cannon-Albright.

895T   Evaluation of the common genetic architecture of problematic peer relationships. B. St. Pourcain, C. M. A. Haworth, O. S. P. Davis, N. J. Timpson, G. McMahon, J. Kemp, D. Evans, S. M. Ring, W. McArdle, J. Golding, R. Plomin, G. Davey Smith.

896F   Reclassification in genetic risk prediction over time. R. Barfield, J. Krier, R. Green, P. Kraft.

897W   Genome-wide association study on morbid obesity in Taiwan Han Chinese. H. C. Chang, W. J. Lee, H. C. Yang, W. H. Pan.

898T   Genome-wide association study identifies novel loci associated with abdominal obesity in Africans. A. Doumatey, A. Adeyemo, G. Chen, F. Tekola-Ayele, A. R. Bentley, J. Zhou, H. Huang, D. Shriner, D. Ngare, O. Fansanmade, T. Johnson, J. Oli, G. Okafar, B. A. Eghan, K. Agyenim-Boatang, J. Adeleye, W. Balogun, C. Adebamowo, A. Amoah, J. Acheampong, C. N. Rotimi.

899F   Genome-wide association analysis shows the highly polygenic character of age-related hearing impairment. E. Fransen, S. Bonneux, J. J. Corneveaux, I. Schrauwen, F. Di Berardino, C. H. White, J. D. Ohmen, P. Van de Heyning, U. Ambrosetti, M. J. Huentelman, G. Van Camp, R. A. Friedman.

900W   Metabolic pathways in relation to obesity: Untargeted metabolomic profiling in a large population-based study. J. Kumar, A. Ganna, T. Fall, J. Prenni, C. Broeckling, J. Prince, L. Lind, E. Ingelsson.

901T   Genome-wide association studies of lipids in Samoans. R. L. Minster, N. L. Hawley, G. Sun, H. Cheng, S. Viali, R. Deka, D. E. Weeks, S. T. McGarvey.

902F   Identification of genetic factors underlying asthma age-of-onset sub-phenotypes. C. Sarnowski, M.-H. Dizier, I. Ahmed, P. Margaritte-Jeannin, M. Lathrop, F. Demenais, E. Bouzigon, EGEA Cooperative Group.

903W   Genetic association of serum magnesium levels in African Americans: The Atherosclerosis Risk in Communities Study. A. Tin, A. R. Folsom, N. Maruthur, C. A. Friedrich, J. Coresh, E. Boerwinkle, W. H. Kao.

904T   Genome-wide search for age- and sex-dependent genetic loci for human anthropometric traits: Methods and results from genome-wide meta-analyses across 310,000 individuals. T. W. Winkler, Z. Kutalik, M. Graff, A. Justice, L. Barata, M. Feitosa, S. Chu, R. Mägi, J. Czajkowski, T. Fall, Y. Lu, T. O. Kilpeläinen, I. M. Heid, I. Borecki, K. E. North, R. J. F. Loos, GIANT (Genetic Investigation of ANthropometric Traits) Consortium.

905F   Targeted resequencing of genome-wide associated candidate regions for pediatric venous thrombosis. A. Witten, A. Arning, A. Barysenka, C. Grote, M. Hiersche, F. Ruehle, U. Nowak-Goettl, M. Stoll.

906W   A meta-analysis of genome-wide association studies for adiponectin level in East Asians identifies a novel locus near WDR11-FGFR2. Y. Wu, H. Gao, H. Li, Y. Tabara, M. Nakatochi, Y.-F. Chiu, E.-J. Park, S. Vadlamudi, M. Fogarty, W. Wen, X.-O. Shu, C. Shin, S. H. Jee, L.-M. Chuang, T. Miki, M. Yokota, X. Lin, K. L. Mohlke, E. S. Tai, Asian Genetic Epidemiology Network (AGEN) Adiponectin Working Group.

907T   Genome-wide association analysis of skeletal muscle fiber types. T. Karaderi, N. Oskolkov, C. Ladenvall, S. Keildson, A. Mahajan, L. Lind, E. Ingelsson, L. Groop, P. Franks, A. P. Morris, O. Hansson, C. M. Lindgren.

908F   Genome-wide association study of skin pigmentation and tanning in African Americans. K. Batai, E. Shah, R. A. Kittles.

909W   The first genome-wide association study of serum lipids among Africans. A. R. Bentley, D. Shriner, G. J. Chen, F. Tekola-Ayele, A. P. Doumatey, H. Huang, J. Zhou, O. Fasanmade, T. Johnson, J. Oli, G. Okafor, B. A. Eghan Jr., K. Argyenim-Boateng, J. Adeleye, W. Balogun, C. Adebamowo, A. Amoah, J. Acheampong, D. Ngare, A. Adeyemo, C. N. Rotimi.

910T   Identification of asthma-related trans-acting epistatic eQTL using Model-Based Multifactor Dimensionality Reduction. K. Bessonov, D. Croteau-Chonka, W. Qi, V. J. Carey, B. A. Raby, K. Van Steen.

911F   Genome-wide association study of major depressive disorder in N=9300 Han Chinese women using low-pass sequencing data. T. Bigdeli, R. E. Peterson, Y. Li, W. Kretzschmar, F. Yang, H. H. Maes, A. H. Fanous, B. T. Webb, B. P. Riley, J. Wang, S. Shi, Y. Chen, J. Marchini, R. Mott, S. A. Bacanu, K. S. Kendler, J. Flint, CONVERGE Consortium.

912W   Genome-wide association study of serum minerals in pediatric African American and Caucasian cohorts. X. Chang, P. Sleiman, H. Hakonarson.

913T   GWAS meta-analysis identified a novel locus associated with corneal curvature in Asian populations. P. Chen, C. Y. Cheng, C. C. Khor, T. Aung, S. M. Saw, T. Y. Wong, E. S. Tai, Y. Y. Teo.

914F   Uncovering loci associated with urinary incontinence in African and Hispanic American women. C. Chen, A. Rajkovic, A. Park, G. Heiss, S. Hendrix, N. Franceschini.

915W   Genome-wide association study of thyrotoxic periodic paralysis. K. C. Chen, P. L. Chen, T. C. Chang.

916T   Common variations at chromosome 21q22 influence the risk of age-related nuclear cataract in Asians: The Singapore Epidemiology of Eye Diseases Study. C. Y. Cheng, J. Liao, P. Chen, X. Li, X. Wang, A. G. Tan, J. J. Wang, P. Mitchell, J. B. Jonas, S. M. Saw, C. C. Khor, E. S. Tai, T. Aung, Y. Y. Teo, T. Y. Wong.

917F   Copy number variations are associated with bone mineral density: A large-scale genome-wide analysis in the Framingham study. W. Chou, K. Nandakumar, D. Karasik, C. Liu, L. Cupples, D. Kiel, Y. Hsu.

918W   Genetic associates of childhood wheezing phenotypes. J. A. Curtin, D. C. M. Belgrave, A. Custovic, A. Simpson.

919T   Exploring the causes of heterogeneity in meta-analysis of genome-wide association studies. H. Deng, Y. Pei, L. Zhang.

920F   Cross-disease analysis using Immunochip reveals four new loci for celiac disease and rheumatoid arthritis. J. Gutierrez-Achury, G. Trynka, S. Raychaudhuri, J. Greenberg, D. Diogo, R. McManus, R. M. Plenge, C. Wijmenga, A. Zhernakova, Celiac Disease Immunochip Consortium, RACI Consortium.

921W   A large scale genome-wide association study of asthma in the 23andMe cohort. D. Hinds, C. Tian, A. K. Kiefer, J. L. Mountain, N. Eriksson, J. Y. Tung.

922T   A genome-wide association study highlights multiple variants associated with Epstein-Barr virus load in the 1000 Genomes and HapMap lymphoblastoid cell lines. C. J. Houldcroft, J. Z. Liu, A. Gall, D. Frampton, C. A. Anderson, P. Kellam.

923F   Identification of multiple genetic susceptibility loci in Takayasu’s arteritis. T. Hughes, G. Saruhan-Direskeneli, P. Coit, J. M. Guthridge, J. A. James, P. A. Merkel, H. Direskeneli, A. H. Sawalha, on behalf of Vasculitis Clinical Research Consortium and Turkish Takayasu Study Group.

924W   Genome-wide association confirms TCF4 as a major locus for Fuchs endothelial corneal dystrophy and identifies novel loci. S. K. Iyengar, N. Afshari, R. P. Igo, Jr., Y.-J. Li, J. L. Lass, G. Klintworth, for FECD Consortium.

925T   Sub-phenotype mapping in systemic lupus erythematosus identifies multiple novel loci associated with circulating interferon alpha. S. Kariuki, Y. Ghodke-Puranik, J. Dorschner, B. Chrabot, J. Kelly, B. Tsao, R. Kimberly, M. Alarcón-Riquelme, C. Jacob, L. Criswell, K. Sivils, C. Langefeld, J. Harley, A. Skol, T. Niewold.

926F   Presence of genome-wide associations for Parkinson’s disease on the X chromosome. M. F. Keller, M. A. Nalls, A. B. Singleton, International Parkinson’s Disease Genomics Consortium (IPDGC).

927W   Feasibility of routine bi- and tri-variate exhaustive analysis of case-control GWAS. A. Kowalczyk, Q. Wang, B. Goudey, H. Ferra, D. Rawlinson, J. Bedo, A. C. Kowalczyk, G. Abraham, F. Shi, L. Gor, R. M. Campbell, C. Iglesias, A. Zarnegar, E. Kikianty, G. J. Macintyre, I. Haviv, C. S. Ong, M. Inouye.

928T   Genetic variants associated with total lung capacity in chronic obstructive pulmonary disease. J. H. Lee, G. M. Hunninghake, M. N. McDonald, M. H. Cho, M. Hardin, E. S. Wan, P. J. Castaldi, A. Gulsvik, P. Bakke, E. K. Silverman, C. P. Hersh, COPDGene and ECLIPSE Investigators.

929F   The genome-wide association analysis and meta-analysis of sciatica in two Finnish populations. S. Lemmelä, S. Solovieva, R. Shiri, I. Seppälä, M. Heliövaara, M. Kähönen, M. Juonala, J. Viikari, O. Raitakari, T. Lehtimäki, E. Viikari-Juntura, K. Husgafvel-Pursiainen.

930W   Replication of GWAS results for dental caries in the permanent dentition. D. Lewis, J. Shaffer, E. Feingold, M. Cooper, R. Weyant, D. McNeil, R. Crout, S. Reis, A. Vieira, M. Vanyukov, M. Marazita.

931T   Negative-regulation-of-apoptotic-process identified to be associated with appendicular lean mass through meta-analysis of pathway-based genome-wide association analysis. J. Li, C. Xu, Y.-F. Pei, Q. Tian, H.-W. Deng.

932F   Cannabis dependence is associated with genetic variants in genes linked to schizophrenia. M. Lohsen, R. Sherva, R. Koesterer, H. Kranzler, H. Zhao, L. Almasy, L. Farrer, J. Gelernter.

933W   Examining genetic risk factors for progression of chronic kidney diseases: Genome-wide pathway analysis of PediGFR. L. Luo, P. A. Kanetsky, J. Gupta, N. Mitra, E. Wühl, A. Köttgen, S. L. Furth, B. A. Warady, F. Schaefer, C. Wong.

934T   Systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. J. E. Martin, S. Assassi, L. M. Diaz-Gallo, J. C. Broen, X. Zhou, J. D. Reveille, O. Gorlova, B. P. C. Koeleman, T. R. D. J. Radstake, T. Vyse, M. D. Mayes, M. E. Alarcon-Riquelme, J. Martin, SLEGEN.

935F   Replication study of age-related macular degeneration susceptible gene using large genome-wide association study of Japanese. M. Miyake, K. Yamashiro, H. Nakanishi, I. Nakata, Y. Akagi-Kurashige, K. Kumagai, M. Oishi, A. Oishi, N. Gotoh, A. Tsujikawa, M. Saito, Y. Kurimoto, T. Kawaguchi, C. C. Khor, C. Y. Cheng, T. Y. Wong, R. Yamada, F. Matsuda, N. Yoshimura, Nagahama Study Group.

936W   Imputation-based genomic coverage assessments of current human genotyping arrays. S. C. Nelson, K. F. Doheny, E. W. Pugh, J. M. Romm, H. Ling, S. R. Browning, B. S. Weir, C. C. Laurie.

937T   Understanding of IL28B gene associated with treatment response for HCV patients. N. Nishida, Y. Tanaka, M. Sugiyama, Y. Mawatari, M. Ishii, C. Haga, K. Tokunaga, M. Mizokami.

938F   Association of body mass-associated polymorphisms in FTO intron 1 with determination of Sasang constitutional types in Koreans. A. Park, S. Cha, H. Yu, J. Kim.

939W   A genome-wide association study to identify susceptibility loci for bronchiolitis. A. Pasanen, M. K. Karjalainen, M. Ruotsalainen, E. Piippo-Savolainen, E. Goksör, G. Wennergren, M. Hallman, M. Rämet, M. Korppi.

940T   The contribution of low frequency coding variants to normal variation in adult height and BMI. D. Pasko, K. Stirrups, N. Masca, L. Southam, T. V. Varga, H. Zhang, R. Mägi, D. Thompson, W. Zhang, A. Mahajan, R. A. Scott, on behalf of UK ExomeChip Consortium.

941F   On individual genome-wide association studies and their meta-analysis. Y. Pei, L. Zhang, C. Papasian, Y. Wang, H. Deng.

942W   Genome-wide association study and admixture mapping reveals new loci associated with total IgE levels in Latinos. M. Pino-Yanes, C. R. Gignoux, J. M. Galanter, A. M. Levin, R. Mathias, C. Eng, E. A. Nguyen, L. A. Roth, S. Huntsman, K. Sandoval, A. Moreno, C. A. Winkler, L. N. Borrell, B. A. Raby, S. T. Weiss, D. L. Nicolae, C. Ober, D. A. Meyers, E. R. Bleecker, F. D. Martinez, S. Sen, R. Kumar, C. Bustamante, K. C. Barnes, L. K. Williams, D. G. Torgerson, E. G. Burchard, on behalf of GALA II Investigators.

943T   Sequencing-based GWAS contributes to the refinement of association signals for inflammatory markers in Sardinians. E. Porcu, C. Sidore, M. Steri, A. Mulas, M. Zoledziewska, F. Busonero, A. Maschio, F. Danjou, G. Pistis, M. G. Piras, M. Dei, S. Lai, H. M. Kang, C. Brennan, R. Berutti, M. F. Urru, M. Oppo, A. Angius, D. Schlessinger, F. Cucca, G. Abecasis, S. Naitza, S. Sanna.

944F   Genetic variants underlying endometriosis risk: Meta-analysis on eight genome-wide association and replication studies. N. Rahmioglu, D. Nyholt, S. A. Missmer, G. W. Montgomery, K. T. Zondervan.

945W   Searching genes for body shape: A genome-wide meta-analysis in >170,000 individuals of the GIANT consortium. J. S. Ried, J. M. Jeff, J. van Dongen, J. E. Huffman, J. Bragg-Gresham, A. Y. Chu, M. Müller-Nurasyid, R. J. F. Loos, on behalf of GIANT Consortium.

946T   Metabolomics in genome-wide association studies: Revealing gene-metabolite-disease links. R. Rueedi, M. Ledda, S. Bergmann, U. K. Genick, Z. Kutalik.

947F   A genome wide association study to determine the susceptibility toStaphylococcus aureus infection. S. K. Shukla, D. Vasco, T. Carter, M. H. Brilliant, S. J. Schrodi.

948W   Uncovering genetic modifiers of sickle cell anemia in a sub-Saharan African population — A genome-wide association study of sickle-cell severity. T. Singh, S. Nkya, S. E. Cox, J. C. Barrett, J. Makani.

949T   Identification of 3 susceptibility loci for Crohn’s disease in a genome-wide association study of a Korean population. K. Song, S. Yang, M. Hong, W. Zhao, J. Baek, I. Liu, Y. Jung.

950F   Genetic burden of common variants in progressive and bout onset multiple sclerosis. M. Sorosina, P. Brambilla, F. Clarelli, N. Barizzone, S. Lupoli, C. Guaschino, G. Liberatore, A. M. Osiceanu, V. Martinelli, D. Cusi, M. Leone, G. Comi, S. D'Alfonso, F. Martinelli Boneschi, International Multiple Sclerosis Genetics Consortium, PROGEMUS, PROGRESSO.

951W   Dissecting genomic architecture through advanced SNP-based heritability analysis. D. Speed, V. Plagnol, M. Johnson, D. Balding.

952T   GWAS identifies classical HLA alleles associated with susceptibility to infectious diseases. C. Tian, J. Mountain, N. Eriksson, J. Tung, A. Kiefer, D. Hinds.

953F   Improving genome-wide association studies via markers decorrelation. O. Weissbrod, D. Geiger, N. Zaitlen, D. Heckerman.

954W   A group sparse additive model for genome-wide association studies of dynamic complex traits. J. Yin, M. Marchetti-Bowick, J. Howrylak, E. Xing.

955T   Characterizing and redefining clinical subtypes of inflammatory bowel disease using genotypes and phenotypes from 47,000 patients. G. Boucher, on behalf of International Inflammatory Bowel Disease Genetics Consortium (IIBDGC).

956F   Genome-wide association in 5 isolated populations give new insight on the genetic bases of food preferences. N. Pirastu, M. Kooyman, A. Robino, C. van Duijn, D. Toniolo, P. Gasparini.

957W   Analysis of exomic variation in the Ashkenazi Jewish population identifies novel associations to Crohn’s disease in LRRK2. K. Hui, W. Zhang, T. Haritunians, S. Carmi, B. M. Bowen, S. R. Brant, J. D. Rioux, M. Silverberg, S. Katz, A. Chaifetz, H. Zhao, G. Atzmon, L. Ozelius, S. Bressman, L. N. Clark, I. Pe'er, T. Lencz, D. P. McGovern, R. H. Duerr, J. H. Cho, I. Peter.

958T   Genome-wide association analysis of diverse immune-related phenotypes highlights complex overlapping pathways of immune response. J. Y. Tung, N. Eriksson, A. K. Kiefer, D. A. Hinds.

959F   Joint association analysis of genome-wide human and HIV-1 variation. I. Bartha, J. Carlson, P. J. McLaren, Z. Brumme, C. Brumme, R. Harrigan, A. Rauch, H. Günthard, M. John, D. Heckerman, T. M. Allen, C. L. Galíndez, J. Martinez-Picado, V. Müller, A. Telenti, J. Fellay, HIV Genome to Genome Study.

960W   Shared genetic background for leprosy and inflammatory bowel disease: Chinks in the primary defense against pathogens. E. Festen, A. Kresentia Irwanto, S. Ripke, D. Ellinghaus, R. K. Weersma, A. Franke, J. J. Liu, IIBDGC.

961T   Novel genetic loci identified for HIV-1 acquisition: A 1000 Genomes-imputed genome-wide association study among injection drug users and a replication. E. O. Johnson, D. B. Hancock, N. C. Gaddis, J. L. Levy, G. P. Page, S. P. Novak, C. Glasheen, N. L. Saccone, J. P. Rice, Q. Wang, M. Moreau, K. Doheny, J. Romm, B. Aouizerat, A. I. Brooks, L. J. Bierut, A. H. Kral.

962F   Genome-wide discovery of genetic predictors of weight-loss in obese subjects in response to diet and exercise. C. M. Molony, D. F. Reilly, H. Zhou, S. Heymsfield, B. Goldstein, M. L. Reitman, L. Tacconi, N. Thornberry.

963W   Plasma lipids, chromosome 11q23.3, and the risk of infantile hypertrophic pyloric stenosis. B. Feenstra, F. Geller, L. Carstensen, P. A. Romitti, I. Baranowska Körberg, B. Bedell, C. Krogh, R. Fan, A. Svenningsson, M. Caggana, A. Nordenskjöld, J. L. Mills, J. C. Murray, M. Melbye.

964T   Meta-analysis of genome-wide association studies identifies three new susceptibility loci for intracerebral hemorrhage. G. J. Falcone, D. Woo, C. D. Langefeld, J. Rosand, International Stroke Genetics Consortium.

965F   Association between obsessive-compulsive disorder and phenotypes in a genome-wide association study. G. Zai, C. Zai, J. Knight, J. L. Kennedy, M. A. Richter.

966W   Genome-wide association analysis in a 23andMe cohort identifies novel associations with uterine fibroids. A. S. Shmygelska, N. K. Eriksson, J. Y. Tung, J. L. Mountain, U. Francke, A. K. Kiefer, D. A. Hinds.

967T   Identification of susceptibility genes of adult asthma in French Canadian women. J. C. Berube, E. Lavoie-Charland, N. Gaudreault, L. Sbarra, C. Henry, L. P. Boulet, Y. Bosse.

968F   Familial history of chronic rhinosinusitis predicts more severe disease. L. Mfuna Endam, A. Filali-Mouhim, P. Boisvert, L. P. Boulet, Y. Bossé, M. Desrosiers.

969W   Refinement of whole-body bone mineral density measures of children assists the identification of genetic variants associated with skeletal site specificity and bone mass attainment. J. P. Kemp, C. Medina-Gomez, K. Estrada, B. St-Pourcain, D. H. M. Heppe, N. J. Timpson, L. Oei, S. M. Ring, C. J. Kruithof, L. E. Wolber, F. M. K. Williams, M. C. Zillikens, A. Hofman, A. G. Uitterlinden, G. Davey-Smith, V. W. V. Jaddoe, J. H. Tobias, F. Rivadeneira, D. M. Evans.

970T   GWAS SNPs impact gene expression through inheritance of multiple enhancer variants. O. Corradin, A. Saiakhova, B. Akhtar-Zaidi, L. Myeroff, J. Willis, S. Markowitz, P. C. Scacheri.

971F   Novel genetic association of primary severe localized provoked vulvodynia with TRPV1 and NGF: Possible common predisposition with other pain syndromes. T. Falik-Zaccai, L. Kalfon, A. Azran, Y. Farajun, E. Tubin, O. Hemo, L. Abramov, A. Yeshaya, J. Bornstein.

972W   Predicting regions associated with complex traits using multi-kernel support vector machines. D. Kostka, J. A. Capra.

973T   A search for genetic risk factors of age-related macular degeneration informed by the genetics of Alzheimer disease. M. W. Logue, M. Schu, B. N. Vardarajan, J. Farrell, K. L. Lunetta, G. Jun, C. T. Baldwin, M. DeAngelis, L. A. Farrer.

974F   X-linked genes associated with cleft lip with or without palate in a family-based genome wide association study in Patagonia. R. F. Fonseca, F. M. de Carvalho, F. Poletta, D. Montaner, J. C. Mereb, M. A. M. Moreira, H. N. Seuanez, A. R. Vieira, E. H. Castilla, I. M. Orioli.

975W   Linkage analysis: Genomic regions contributing to the expression of type 1 diabetes microvascular complications. E. M. Lipner, Y. Tomer, J. A. Noble, M. C. Monti, J. T. Lonsdale, B. Corso, D. A. Greenberg.

976T   Gene-environment interactions between obesity gene variants and body size in multiple sclerosis. M. A. Gianfrancesco, B. Acuna, L. Shen, F. B. S. Briggs, H. Quach, A. Bernstein, A. K. Hedstrom, I. Kockum, L. Alfredsson, T. Olsson, C. Schaefer, L. F. Barcellos.

977F   Genetic linkage analysis using large consanguineous pedigrees from South India suggests new loci for ocular quantitative traits. B. Fan, P. Ferdina Marie Sharmila, N. Soumittra, S. Sripriya, J. Madhavan, D. S. Friedman, L. Vijaya, J. L. Haines, R. George, J. L. Wiggs.

978W   Genome-wide family-based linkage analysis of coding variants and cardiometabolic risk. J. N. Hellwege, N. D. Palmer, L. M. Raffield, M. C. Y. Ng, G. A. Hawkins, J. Long, C. Lorenzo, J. M. Norris, J. I. Rotter, C. D. Langefeld, L. E. Wagenknecht, D. W. Bowden.

979T   Genome-wide screen for self-reported physical disability loci in the oldest-old Amish. J. E. Hicks, J. R. Gilbert, L. Caywood, L. Reinhart-Mercer, D. Fuzzell, R. Laux, M. A. Pericak-Vance, J. L. Haines, W. K. Scott.

980F   Linkage and association analysis of von Willebrand factor propeptide levels provides mechanistic insight into the genetic control of plasma von Willebrand factor levels. K. C. Desch, A. B. Ozel, D. Siemieniak, J. Z. Li, D. Ginsburg.

981W   Genetic variants on 17q23.2 and 10q11.21 are associated with variation in telomere length: The Long Life Family Study. J. H. Lee, R. Cheng, L. S. Honig, M. Feitosa, C. Kammerer, M. S. Kang, N. Schupf, R. Lin, J. L. Sanders, H. Bae, T. Druley, T. Perls, K. Christensen, M. Province, R. Mayeux.

982T   Combined genome-wide linkage and association studies of centenarians identifies several new candidate genes for longevity. P. Sebastiani, H. Bae, T. T. Perls.

983F   Analyzing patterns of IBD sharing in Oceanic Palau to identify genomic regions harboring risk for schizophrenia. C. A. Bodea, F. Middleton, L. Klei, S. V. Faraone, S. Vinogradov, J. Tiobech, V. Yano, S. Kuartei, K. Roeder, N. Melhem, B. Devlin, M. Myles-Worsley, W. Byerley.

984W   Cumulative genetic load for known multiple sclerosis risk variants in Sardinia. A. Hadjixenofontos, L. Foco, P.-A. Gourraud, A. Tikka, P. Bitti, R. Pastorino, L. Bernardinelli, J. L. McCauley.

985T   Interaction between adiponectin and adiponectin receptor 1 is associated with age-related hearing impairment. C. Wu, C. Tsai, J. Hwang, Y. Lu, Y. Lin, P. Chen, W. Yang, W. Liao, Y. Lee, T. Liu, C. Hsu.

986F   On the use of cis-eQTL analyses to identify novel associations between OPRM1 polymorphisms and heroin abuse. D. B. Hancock, J. L. Levy, N. L. Saccone, N. C. Gaddis, L. J. Bierut, G. P. Page, E. O. Johnson.

987W   Evidence for a polygenic contribution to androgenetic alopecia. S. Heilmann, F. F. Brockschmidt, A. M. Hillmer, S. Hanneken, S. Eigelshoven, K. U. Ludwig, C. Herold, E. Mangold, T. Becker, R. Kruse, M. Knapp, M. M. Nöthen.

988T   Integrated eQTL and genetic association analysis in smokers with COPD identifies disease-associated eQTL loci. P. J. Castaldi, M. H. Cho, W. Qiu, B. R. Celli, J. H. Riley, S. M. Fox, D. Singh, R. Tal-Singer, B. A. Raby, V. J. Carey, E. K. Silverman, C. P. Hersh, ECLIPSE Investigators.

989F   Using an integrative mapping approach to identifiy novel genetic factors contributing to pulmonary arterial hypertension. W. C. Nichols, M. W. Pauciulo, D. Koller, C. Tolentino, T. D. Le Cras, P. Pastura, B. Aronow, D. Li, T. Foroud.

990W   Investigation of classical human leukocyte antigens (HLA) and expression quantitative trait loci within the HLA region in association with Parkinson’s disease. H. Payami, W. Wissemann, E. Hill-Burns, C. Zabetian, S. Factor, N. Patsopoulos, B. Hoglund, C. Holcomb, G. Thomson, H. Erlich.

991T   Identification of candidate psoriasis susceptibility alleles within an HLA-C enhancer element. R. C. Trembath, A. Clop, A. Bertoni, S. L. Spain, M. A. Simpson, V. Pullabhatla, R. Tonda, C. Hundhausen, P. Di Meglio, P. De Jong, A. Hayday, F. O. Nestle, J. N. Barker, R. J. A. Bell, F. Capon.

992F   Joint eQTL analysis in multiple tissues, accounting for heterogeneity and incomplete subject overlap. G. Li, A. A. Shabalin, I. Rusyn, F. A. Wright, A. B. Nobel.

993W   Role of common genetic polymorphisms in transgenerational inheritance of inherent as well as acquired traits in budding yeast. Z. Zhu, Q. Lu, D. Yuan, Y. Li, X. Man, Y. Zhu, S. Huang.

994T   Evidence for a genetic contribution to rotator cuff disease in a new population genealogy at the Veterans Administration. C. C. Teerlink, J. M. Farnham, L. J. Meyer, L. A. Cannon-Albright.

995F   High-dimensional genetic prediction of type-2 diabetes susceptibility. Y. Klimentidis, A. Vazquez, G. de los Campos, D. Allison.

996W   Investigating missing heritability and improving risk prediction with maximally free marginal models of phenotype. N. Zaitlen, T. Wingo, A. Gusev, D. J. Cutler.

997T   Life course variations in the heritability of body size. J. Zhao, J. A. Luan, S. J. Sharp, R. Hardy, A. Wong, Q. Tan, N. J. Wareham, D. Kuh, K. K. Ong.

998F   Quantifying missing heritability from known GWAS loci and rare coding variants. A. Gusev, B. M. Neale, G. Bhatia, N. Zaitlen, B. J. Vilhjalmsson, D. Diogo, E. A. Stahl, P. K. Gregersen, J. Worthington, L. Klareskog, S. Raychaudhuri, R. Plenge, B. Pasaniuc, P. F. Sullivan, A. L. Price.

999W   Assessing the impact of coding variants on lipid levels with the Exomechip. K. E. Stirrups, N. Masca, T. V. Varga, R. Scott, L. Southam, W. Zhang, D. Pasko, A. Mahajan, S. Kanoni, UK Exomechip Lipids Consortium.

1000T   Narrowing the gap on heritability of common disease by direct estimation in case-control GWAS. D. Golan, S. Rosset.

1001F   GWAS data-based heritability estimation of memory related phenotypes. C. Vogler, V. Freytag, A. Milnik, L. Gschwind, D. Coynel, A. Heck, D. de Quervain, A. Papassotiropoulos.

1002W   Polygenic analysis of type II diabetes in the DIAGRAMv3 GWAS meta-analysis, and partitioning of polygenic signal in tissue-specifically active genes. A. L. Dobbyn, B. F. Voight, E. E. Kenny, J. Jeff, P. Roussos, O. Gottesman, A. Morris, R. Loos, E. Bottinger, S. Raychaudhuri, M. McCarthy, E. A. Stahl, DIAGRAM Consortium.

1003T   Bivariate analysis of blood pressure traits in Danish and Chinese twins. S. Li, T. A. Kruse, K. O. Kyvik.

1004F   The genetic architecture of schizophrenia in the Swedish schizophrenia study. E. A. Stahl, S. H. Lee, G. Moser, S. Ripke, D. M. Ruderfer, S. M. Purcell, P. Sklar, C. Hultman, P. F. Sullivan.

1005W   Heritability contribution of gut microbiome to metabolic traits in mice. E. Kostem, E. Org, B. Parks, R. Knight, J. Lusis, E. Eskin.

1006T   Proteomic and bioinformatics analysis of the endolysosomal pathway: Deciphering the insulin receptor Golgi/endosome subnetwork. M. B. Djidjou, C. Landry, R. Laframboise, R. Faure.

1007F   Transcriptomics of natural resistance to SIV infection in wild African green monkey populations in Africa. A. Jasinska, D. Ma, N. Tran, C. Blum, P. Turner, T. Grobler, Y. Jung, C. A. Schmitt, M. Dion, M. Antonio, G. Coppola, I. Pandrea, C. Apetrei, N. Freimer.

1008W   Knockdown of zebrafish crispld2 results in craniofacial defects and abnormal NCC migration. Q. Yuan, E. C. Swindell, J. T. Hecht.

1009T   Whole genome analysis in fibromyalgia suggests a role for the central nervous system in disease susceptibility. E. Docampo, G. Escaramis, M. Gratacos, S. Villatoro, A. Puig, M. Kogevinas, A. Collado, J. Carbonell, J. Rivera, J. Vidal, J. Alegre, R. Rabionet, X. Estivill.

1010F   Sex-specific heritability of traits related to human obesity in rhesus macaques. A. Vinson, A. D. Mitchell, D. Toffey, M. J. Raboin.

1011W   Gene expression changes in response to paraquat and caffeine in a Drosophila model of Parkinson’s disease. E. M. Hill-Burns, P. Ganguly, W. T. Wissemann, W. J. Wolfgang, H. Payami.

1012T   Probing the Gaucher/Parkinson link by crossing different mouse models. N. Tayebi, E. Maniwang, R. Tamargo, Y. Blech-Hermoni, N. Moaven, E. Aflaki, B. Berhe, E. Sidransky.

1013F   eQTL mapping of genes differentially expressed in the lung of COPD patients reveals new genes associated with disease susceptibility. M. Lamontagne, C. Couture, M. Laviolette, Y. Bossé, Merck-Laval-UBC-Groningen.

1014W   Generation of a cre recombinase-conditional Nos1ap overexpression transgenic mouse for modeling QT interval variation. D. R. Auer, P. Sysa-Shah, D. Bedja, J. Simmers, E. Pak, A. Dutra, R. Cohn, K. L. Gabrielson, A. Chakravarti, A. Kapoor.

1015T   Generation and characterization of NLGN2 R215H knock-in mice as a model of schizophrenia. C. H. Chen, H. M. Liao, C. C. Yeh, Y. L. Chao.

1016F   Identifying pathway-level pleiotropic effects in pancreatic cancer and Crohn’s disease. K. Aquino-Michaels, E. R. Gamazon, P. Evans, V. Trubetskoy, F. Innocenti, K. Owzar, H. K. Im, N. J. Cox.

1017W   Cell-specific enrichment metrics for overlap of signals from GWAS with DNase hypersensitivity sites. D. Chasman, F. Giulianini, on behalf of CKDGen and BP Metabochip-ICBP Consortia.

1018T   Downregulation of the acetyl CoA metabolic network in visceral and subcutaneous adipose tissue of diabetic but not healthy obese individuals. H. Dharuri, P. A. C. ’t Hoen, J. B. van Klinken, P. Henneman, J. F. J. Laros, M. Lips, H. Pijl, K. Willems van Dijk, V. van Harmelen.

1019F   Primary progressive versus bout onset multiple sclerosis: GWAS and pathway-network analysis. G. Giacalone, F. Clarelli, P. Brambilla, A. Osiceanu, M. Sorosina, V. Martinelli, M. Leone, S. D'Alfonso, G. Comi, F. Martinelli Boneschi.

1020W   Genome-wide analyses of TCF7L2 DNA occupancy across multiple cell lines point to genetic networks underpinning complex traits. M. E. Johnson, J. Zhao, J. Schug, S. Deliard, Q. Xia, V. Guy, J. Sainz, K. H. Kaestner, A. D. Wells, S. F. A. Grant.

1021T   Pathway analysis reveals new insights to genetic risk for multiple sclerosis among smokers. H. Quach, F. B. S. Briggs, L. Shen, C. Schaefer, L. F. Barcellos.

1022F   Regulatory networks reveal directed pathways enriched in disease-associated SNVs in complex diseases. G. Quon, S. Feizi, D. Marbach, M. Mendoza, M. Kellis.

1023W   Currarino syndrome: Searching for factors modifying expression of MNX1. I. Holm, T. Monclair, B. Stadheim, K. L. Eiklid.

1024T   Analysis of GTF2IRD1’s role in the craniofacial and neurological features of Williams-Beuren syndrome indicates an epigenetic control function. S. J. Palmer, C. P. Canales, P. Carmona-Mora, F. Tomasetig, J. Widagdo, A. C. Y. Wong, G. D. Housley, P. Kaur, I. Smyth, A. J. Hannan, P. W. Gunning, E. C. Hardeman.

1025F   A disease module captures novel candidate genes and pathways for asthma. A. Sharma, J. Menche, S. Ghiassian, A.-L. Barabási.

1026W   The generation of sex-specific allergy networks: Validation that allergic disease has sexual dimorphic origins. J. Lasky-Su, W. Qiu, V. Carey, S. Weiss, B. Raby, D. DeMeo.

1027T   Gene network analysis of candidate loci for human anorectal malformations. M. Garcia-Barcelo, E. H. M. Wong, C. H. Ng, V. C. Lui, M. T. So, S. S. Cherny, P. C. Sham, P. K. Tam.

1028F   Comparison of gene expression induced by HIV-1 GAG peptides specific to HLA-A*01:01 and B*07:02 in PBMCs by mRNA-seq analysis. L. R. Liu, P. LaCap, R. Capina, B. Liang, B. Fristensky, B. Ball, F. Plummer, M. Luo.

1029W   Protein altering variants found in ciliary and polarity genes in biliary atresia patients. E. A. Tsai, C. M. Grochowski, L. D. Leonard, R. P. Matthews, K. M. Loomes, B. A. Haber, N. B. Spinner, M. Devoto.

1030T   Vascular tone pathway in relation to primary open angle: Results from the NEIGHBORHOOD Consortium. L. Pasquale, S. Loomis, J. Kang, J. Bailey, J. Haines, B. Yaspan, M. Hauser, J. Wiggs, NEIGHBORHOOD Consortium.

1031F   Polygenetic risk model suggests a protective effect of lipid genes on plasma glucose and HbA1c levels. J. Fu, N. Li, M. van der Sijder, C. Wijmenga, H. Snieder, M. H. Hofker.

1032W   Molecular intermediate phenotype mapping of IL-6 and TNFα levels reveals genes critical for chronic systemic inflammation. S. J. Schrodi, D. David, J. K. Meece, D. A. Vasco, J. J. Mazza, M. H. Brilliant, J. A. Smith.

1033T   Uncovering the genetic architecture of complex traits using network approaches. J. Choi, C. Cotsapas.

1034F   Topological analysis of heterogeneous domain knowledge networks prioritizes genes associated with complex diseases. D. S. Himmelstein, S. E. Baranzini.

1035W   Novel approach using gene set enrichment based on human genome-wide association study data implicates FXR/RXR activation as a common pathway affecting blood lipids levels and nonalcoholic fatty liver disease. Y. M. Puentes, C. C. Powell, L. M. Yerges-Armstrong, M. F. Feitosa, L. F. Bielak, A. V. Smith, T. B. Harris, J. Liu, S. K. Musani, I. B. Borecki, P. A. Peyser, E. K. Speliotes, GOLD Consortium.

1036T   Identification of disease-relevant pathways among exome variants with a gene network based on the semantic similarity of mouse phenotypes. F. Honti, C. Webber.

1037F   Gene-set enrichment analysis of gene expression associations with acute asthma control hints at candidate drug pathways. D. C. Croteau-Chonka, W. Qiu, V. J. Carey, S. T. Weiss, B. A. Raby, Asthma BioRepository for Integrative Genomic Exploration (Asthma BRIDGE) Consortium.

1038W   Gene set signature of leprosy reversal reaction type 1. M. Orlova, A. Cobat, N. Thu Huong, N. N. Ba, N. V. Thuc, J. Spencer, Y. Nédélec, L. Barreiro, V. H. Thai, L. Abel, A. Alcaďs, E. Schurr.

1039T   Characterizing variation in inter-individual immune response by asthma and allergic disease status in a founder population. M. Stein, C. Hrusch, G. Alkorta-Aranburu, K. A. Bailey, M. Çaliskan, C. Igartua, C. Kagan, K. Ross, E. E. Thompson, A. Sperling, C. Ober.

1040F   Gene network analysis with GWAS data identifies novel lung function gene set. J. Li, B. A. Ong, J. M. McDonough, Z. Wei, C. Kim, R. Chiavacci, F. Mentch, J. B. Caboot, J. Spergel, J. L. Allen, P. M. A. Sleiman, H. Hakonarson.

1041W   Genetics of the sphingolipid metabolism in hypertension. M. Fenger, A. Linneberg, J. Jeppesen.

1042T   Characterization of gene expression biomarker signatures for use as an Alopecia Areata Disease Activity Index (ALADIN). J. E. Cerise, A. Jabbari, J. C. Chen, M. Duvic, M. Hordinsky, D. Norris, V. Price, J. Mackay-Wiggan, R. Clynes, A. M. Christiano.

1043F   Psoriasis susceptibility genes in patient with severe compared with mild phenotype. P. Nikamo, M. Stĺhle.

1044W   Validating trans-eQTLs using evidence of cis-mediation: a genome-wide analysis among 1,800 South Asians. B. Pierce, L. Tong, R. Rahaman, L. Chen, M. Kibriya, M. Argos, J. Farzana, R. Shantanu, R. Paul-Brutus, R. Zaman, M. Rahman, J. Baron, H. Ahsan.

1045T   Transcriptome analysis of CD4+ lymphocytes in asthmatics with or without depression. J. He, T. Wang, Z. Liang, X. Xiong, Y. Yang, Y. Ji.

1046F   Genetic variation in the ER stress response network in the mouse. C. Y. Chow, D. D. Riccardi, X. Wang, M. F. Wolfner, A. G. Clark.

1047W   Global metabolite profiling and the risk of osteoporotic fractures: A systems biology approach by integrating genomics and tissue-specific gene expression profiling, proteomics and metabolomics in postmenopausal Caucasian women. Y.-H. Hsu, S. Reppe, C.-L. Chi, D. Karasik, J. Brain, D. P. Kiel, K. Gautvik.

1048T   Integrating genome-wide association data with a protein-protein interaction network to define chronic obstructive pulmonary disease gene modules. M.-L. N. McDonald, M. Cho, M. Matthiesen, B. Harshfield, T. H. Beaty, C. P. Hersh, C. Lange, E. K. Silverman, on behalf of COPDGene Investigators.

1049F   Hypothesis independent pathway analysis identifies biologic pathways influencing susceptibility to glaucoma. J. L. Wiggs, J. N. Cooke Bailey, L. R. Pasquale, S. J. Loomis, J. H. Kang, B. Yaspan, M. Brilliant, W. Christen, J. H. Fingert, D. Gaasterland, T. Gaasterland, R. K. Lee, P. R. Lichter, Y. Liu, S. E. Moroi, L. M. Olson, J. E. Richards, J. S. Schuman, W. K. Scott, K. Singh, A. Sit, D. Vollrath, G. Wollstein, D. J. Zack, K. Zhang, R. R. Alllingham, M. A. Pericak-Vance, R. N. Weinreb, M. A. Hauser, J. L. Haines, NEIGHBORHOOD Consortium.

1050W   Gene expression profile of synovial fluid following meniscal injury: Osteoarthritis markers found. D. D. Vance, L. Wang, E. Rampersaud, T. Guettouche, B. P. Lesniak, J. M. Vance, M. A. Pericak-Vance, L. D. Kaplan.

1051T   Genetic association study of adaptor protein complex 4 with cerebral palsy in Han Chinese population. Q. Xing, H. Wang, T. Li, M. Chen, Q. Shang, D. Zhu, L. Wang, Q. Li, L. He, C. Zhu.

1052F   Association analysis of candidate gene polymorphisms in asthma, rhinitis and chronic bronchitis: Preliminary results from the GEIRD study. C. Bombieri, F. Belpinati, A. Baldan, A. R. Lo Presti, G. Malerba, S. Accordini, L. Calciano, M. Ferrari, l. Perbellini, P. F. Pignatti, R. De Marco.

1053W   Extending the population spectrum for nonsyndromic orofacial clefting: Recruitment and genetic analyses in an Arabian population from Yemen. K. U. Ludwig, K. Aldurai, A. C. Boehmer, B. Lippke, N. Daratsianos, M. M. Noethen, A. Jaeger, M. Knapp, E. Mangold.

1054T   Further evidence suggesting a role for variation in ARHGAP29 in nonsyndromic cleft lip/palate. L. Maili, A. Letra, J. B. Mulliken, S. Slifer, S. H. Blanton, J. T. Hecht.

1055F   Association of GABRG2 rs211307 polymorphism with susceptibility to epilepsy in Asians: A multicentre case control study and meta-analysis. B. S. Haerian, L. Baum, P. Kwan, S. S. Cherney, H. J. Tan, A. A. Raymond, Z. Mohamed.

1056W   Myosin light chain kinase gene associates with asthma in Spanish and Latino populations. M. Acosta-Herrera, M. Pino-Yanes, A. Corrales, A. Barreto-Luis, J. Cumplido, E. Perez-Rodriguez, P. Campo, C. Eng, J. C. Robaina, I. Machin, I. Quintela, J. Villar, M. Blanca, A. Carracedo, T. Carrillo, J. G. Garcia, E. G. Burchard, S. F. Ma, C. Flores.

1057T   APOE e2 homozygous individuals are underrepresented among elderly Brazilian population. M. S. Naslavsky, M. L. Lebrao, Y. A. O. Duarte, E. Amaro, Jr., T. A. B. Mendes, A. S. Rodrigues, G. Bandeira, D. Schlesinger, L. T. Grinberg, C. K. Suemoto, R. E. P. Leite, R. E. L. Ferretti, C. A. Pasqualucci, J. M. Farfel, R. Nitrini, W. Jacob Filho, M. Zatz.

1058F   GWAS-nominated variants in homogeneous asthma sub-phenotypes. E. Lavoie-Charland, J.-C. Bérubé, M. Laviolette, L.-P. Boulet, Y. Bossé.

1059W   Genetic profiles of lipid-associated polymorphisms for lipid-related traits for addressing constitution-based discrepancy in Koreans. S. Cha, S. K. Chung, H. Yu, A. Y. Park, J. Y. Kim.

1060T   Pleiotropic effects of three SLE-associated functional variants within IFIH1 linked to several autoimmune diseases. J. E. Molineros, S. K. Nath.

1061F   Are genes previously associated with schizophrenia also predictive of dimension-specific psychotic experiences in adolescence? D. Sieradzka, R. A. Power, F. Dudbridge, E. L. Meaburn, R. Plomin, A. Ronald.

1062W   Association of GALNT10 genetic variants with adiposity in African Americans. M. E. Stromberg, J. M. Hester, P. Mudgal, J. Li, P. J. Hicks, B. I. Freedman, D. W. Bowden, M. C. Y. Ng.

1063T   Investigation of the rs2157719 SNP in the CDKN2B-AS1 gene in a primary open-angle glaucoma Brazilian population. H. F. Nunes, J. P. C. Vasconcellos, V. P. Costa, N. I. T. Zanchin, M. B. Melo.

1064F   Genetic testing for age-related macular degeneration in an Armenian population. K. W. S. Small, A. A. Abraamyan, B. Z. Zanke, P. R. Ramamoorthy.

1065W   Associations of age-related macular degeneration susceptibility genes to drusen. K. Yamashiro, M. Yoshikawa, M. Miyake, H. Nakanishi, I. Nakata, N. Gotoh, Y. Kurashige, K. Kumagai, M. Oishi, A. Tsujikawa, R. Yamada, F. Matsuda, N. Yoshimura.

1066T   Positive associations of ZIC2, RASGRF1, and SHISA6 gene with high myopia in Japanese. M. Yoshikawa, K. Yamashiro, M. Oishi, M. Miyake, Y. Akagi-Kurashige, K. Kumagai, I. Nakata, H. Nakanishi, A. Oishi, N. Gotoh, A. Tsujikawa, R. Yamada, F. Matsuda, N. Yoshimura, Nagahama Study Group.

1067F   A large clinical biorepository linked to de-identified electronic medical records mimics a random sample from the general population. D. C. Crawford, M. D. Ritchie, L. Dumitrescu, S. A. Pendergrass, R. Goodloe, J. Boston, E. Farber-Eger, H. H. Dilks, J. L. Haines, W. S. Bush.

1068W   Characterization of a Hispanic population from a biorepository linked to de-identified electronic medical records for genetic association and gene-environment studies. E. Farber-Eger, J. Boston, R. Goodloe, S. Wilson, W. S. Bush, D. C. Crawford.

1069T   Mitochondrial genetic effects on proliferative diabetic retinopathy. D. C. Samuels, M. A. Brantley, Jr.

1070F   The association of 9p21.3 with acute myocardial infarction in managed care populations is independent of statin therapy. P. Erlich, D. Carey, S. Steinhubl, C. McCarty, D. Cross.

1071W   Computational resources required to transform bedside data to base-pair research. W. Bush, J. Boston, E. Farber-Eger, R. Goodloe, D. Crawford.

1072T   Hirschsprung Disease Research Collaborative: A multidisciplinary partnership to advance Hirschsprung disease research. C. Berrios, F. Abdullah, P. K. Frykman, R. Kapur, J. C. Langer, A. Chakravarti.

1073F   Risk assessment of APOL1 genetic variants on renal function and lipid profile in multiethnic hospital-based population. M. Udler, V. Lotay, G. Belbin, C. Wyatt, O. Gottesman, E. Bottinger, E. E. Kenny, I. Peter.

1074W   Towards a phenome-wide catalog of human clinical traits impacted by genetic ancestry. L. Dumitrescu, R. Goodloe, J. Boston, E. Farber-Eger, W. S. Bush, D. C. Crawford.

1075T   Practical implementation of polygenic risk scores in personalized risk assessment for common cardio-metabolic traits. K. Fischer, K. Läll, R. Mägi, T. Haller, L. Leitsalu, T. Esko, A. Metspalu.

1076F   Optimization of genetic coverage and biomedically relevant content of microarrays for genotyping in biobank cohorts. J. Schmidt, Y. Zhan, J. Gollub, Y. Lu, G. Hsiao, M. Nitzberg, E. Schell, L. Bellon, T. Webster.

1077W   ChIP-seq in alcoholic steatohepatitis and normal liver tissue identifies candidate disease mechanisms suggesting progression to cancer. C. Wadelius, M. B. Bysani, O. Wallerman, S. Bornelöv, K. Zatloukal, J. Komorowski.

1078T   National Biological Sample and Data Repository for WHO group 1 pulmonary arterial hypertension. M. Pauciulo, A. Reponen, K. Lutz, C. Winslow, A. Walsworth, J. Harley, M. Barnes, L. Martin, K. Marsolo, W. C. Nichols.

1079F   Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss. R. R. Haraksingh, F. Jahaniani Kenari, J. Rodriguez-Paris, J. Gelernter, K. Nadeau, J. Oghalai, I. Schrijver, M. Snyder.

1080W   Mutations in the BMP genetic network in patients with congenital GnRH deficiency. D. Cassatella, J. Liang, A. Dwyer, G. Sykiotis, H. Miraoui, C. Xu, S. Santini, V. A. Hughes, X. Z. Liu, P. M. Bouloux, M. Lang-Muritano, R. Quinton, J. G. Zhang, B. J. Stevenson, Y. Sidis, N. Pitteloud.

1081T   Identifying rare, non-coding DNA variants in systemic lupus erythematosus. S. J. White, S. Cantsilieris, E. F. Morand.

1082F   MTHFS mutation may contribute to cerebral folate deficiency syndrome. H. Zhu, Y. Lei, R. H. Finnell.

1083W   Pilot whole genome sequencing of germline DNA from 186 breast cancer cases. P. Kraft, J. Allen, C. Chen, B. Decker, J. Figueroa, S. Hart, S. Lindstrom, J. Long, M. Yeager, S. Chanock, F. Couch, D. Easton, C. Haiman, W. Zheng, D. Hunter.

1084T   Exome sequencing in Hodgkin lymphoma families. M. Rotunno, M. McMaster, L. Goldin.

1085F   The burden of coding, non-coding and chromosomal mutations in Hirschsprung disease. T. Turner, K. D. Nguyen, N. Krumm, S. Chatterjee, A. Kapoor, Q. Jiang, A. Y. Ling, M. X. Sosa, N. Gupta, E. E. Eichler, S. Gabriel, C. Berrios, A. Chakravarti.

1086W   Analyses of WES data in multiplex Syrian non-syndromic oral clefts families. J. Bailey-Wilson, E. Holzinger, M. Parker, S. Szymczak, Q. Li, C. Cropp, M. Nöthen, J. Hetmanski, H. Ling, E. Pugh, P. Duggal, M. Taub, I. Ruczinski, A. Scott, M. Marazita, H. Albacha-Hejazi, E. Mangold, T. Beaty.

1087T   Multigenic inheritance as a cause of familial congenital diaphragmatic hernia. T. F. Beck, P. M. Campeau, J. T. Lu, C. Gonzaga-Jauregi, J. R. Lupski, R. A. Gibbs, B. H. Lee, W. Reardon, D. A. Scott, Centers for Mendelian Genomics.

1088F   Exome seqencing identified novel genetic mutations in the patients with congenital vertebral anomalies. Y. Nakamura, S. Kikugawa, S. Seki, M. Takahata, H. Terai, Y. Akaoka, M. Matsubara, F. Fujioka, H. Inagaki, H. Kurahashi, T. Kobayashi, H. Kato.

1089W   Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma. C. D. Campbell, K. Mohajeri, M. Malig, F. Hormozdiari, B. Nelson, G. Du, K. Patterson, C. Eng, D. G. Torgerson, J. X. Chong, A. Ko, L. Vives, B. J. O'Roak, M. Abney, E. G. Burchard, C. Ober, E. E. Eichler.

1090T   Cluster detection approaches to identify disease genes in CNVs implicated in psychiatric disorders: Applications to whole exome sequencing studies on autism and schizophrenia. I. Ionita-Laza, B. Xu, V. Makarov, J. Buxbaum, J. Louw Roos, J. Gogos, M. Karayiorgou.

1091F   Identification and characterization of the first OSBPL1A mutations in individuals with low plasma HDL-C levels. M. M. Motazacker, H. Kentala, J. A. Kuivenhoven, A. W. Schimmel, Y. Zhou, J. Pirhonen, E. Ikonen, G. M. Dallinga-Thie, G. K. Hovingh, M. Jauhiainen, V. M. Olkkonen.

1092W   Whole exome sequencing to identify variants influencing both pre-diabetic traits and type 2 diabetes mellitus in Pima Indians. L. J. Baier, K. Huang, A. Nair, Y. L. Muller, M. del Rosario, S. Kobes, R. L. Hanson, W. C. Knowler, C. Bogardus.

1093T   Whole exome sequencing of 4,000 samples identifies rare variants strongly associated with type 2 diabetes risk in Mexicans and Latinos. K. Estrada, for the SIGMA T2D Consortium.

1094F   A test of association of genome-wide coding variation with type 2 diabetes in 13,000 individuals from five ancestry groups. P. Fontanillas, N. Burtt, P. Cingolani, J. Flannick, K. Gaulton, H. Highland, A. Mahajan, A. Morris, M. Rivas, X. Sim, T. Teslovich, on behalf of T2D-GENES and GoT2D Consortia.

1095W   Whole genome sequencing to identify variants that influence pre-diabetic traits in American Indians. K. Huang, P. Piaggi, S. Kobes, R. Hanson, C. Bogardus, L. Baier.

1096T   Whole exome sequencing identifies PAX4 nonsynonymous variant as susceptibility loci for type 2 diabetes in Koreans. S. H. Kwak, J. I. Kim, K. Kim, Y. M. Cho, H. S. Jung, Y. J. Park, K. S. Park.

1097F   Large-scale exome chip association analysis identifies rare and low-frequency coding variants associated with glycemic traits. A. Mahajan, X. Sim, A. K. Manning, M. A. Rivas, N. Grarup, H. K. Im, H. M. Highland, A. E. Locke, P. Fontanillas, T. M. Teslovich, J. Flannick, C. Fuchsberger, K. Gaulton, H. M. Kang, A. P. Morris, J. B. Meigs, C. M. Lindgren, for T2D-GENES and GoT2D Consortia.

1098W   Exome Chip genotyping in 9,000 individuals (type 2 diabetes and controls) in Mexican and Latinos. J. M. Mercader, H. Moreno, A. Huerta, M. J. Gomez, for SIGMA T2D Genetics Consortium.

1099T   A low frequency coding variant (A316T) in the glucagon-like protein receptor 1 is associated with fasting glucose levels. D. Waterworth, R. Scott, L. Li, C. Gillson, J. Aponte, L. Warren, S. Chissoe, M. Ehm, N. Wareham.

1100F   Whole genome sequencing identifies novel low frequency variant associations in liver function traits. L. Quaye, on behalf of UK10K Consortium Cohorts Group.

1101W   Autozygosity mapping in Pakistani intellectual disability families. M. Rafiq, K. Mittal, I. A. Balouch, A. Noor, C. Windpassinger, A. Mikhailov, M. Aslam, M. Ayaz, A. Mir, M. Ansar, P. John, M. Ayub, J. B. Vincent.

1102T   Identifying genetic variants associated with anorexia nervosa via exome sequencing. S. Yu, E. Pruett, R. Cone, B. Li.

1103F   Identifying the genetic architecture of neural tube defects by exome sequencing a multiplex anencephaly family. K. Soldano, D. Krupp, H. Cope, M. Garrett, A. Ashley-Koch, S. Gregory.

1104W   Whole exome sequencing case-control using 1,000 severe obesity cases identifies putative new loci and replicates previously established loci. A. Hendricks, on behalf of UK10K Consortium: Obesity.

1105T   Rare variant association analysis reveals novel associations with lipids in genes within established loci via imputation up to the 1000 Genomes Project reference panel. R. Magi, M. Horikoshi, I. Surakka, S. Wiltshire, A.-P. Sarin, T. Esko, A. Mahajan, T. Ferreira, M. Beekman, S. Gustafsson, S. Hägg, C. I. Ladenval, L. Marullo, C. P. Nelson, J. S. Ried, G. Thorleifsson, N. Tsernikova, S. M. Willems, C. Willenborg, T. Winkler, C. M. Lindgren, M. I. McCarthy, S. Ripatti, I. Prokopenko, A. P. Morris, ENGAGE Consortium.

1106F   Identification of common and rare variants associated with trunk fat mass using whole-genome sequencing in the UK10K project. L. Paternoster, UK10K Consortium Cohorts Group.

1107W   Statistical dissection of genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 using whole-genome sequence data. R. Rubicz, M. Almeida, E. Drigalenko, T. D. Dyer, T. M. Teslovich, G. Jun, J. M. Peralta, C. Fuchsberger, A. R. Wood, A. R. Manning, T. M. Frayling, P. Cingolani, R. Sladek, D. M. Lehman, J. W. Kent Jr., J. B. Harley, M. A. Carless, J. E. Curran, M. P. Johnson, S. A. Cole, L. Almasy, E. Kraig, G. Abecasis, R. Yolken, R. Duggirala, C. T. Leach, J. Blangero, H. H. H. Göring, T2D-GENES Consortium.

1108T   Whole exome sequencing in age-related macular degeneration. P. Whitehead, W. K. Scott, G. Wang, W. Cade, M. D. Courtenay, S. G. Schwartz, J. L. Kovach, A. Agarwal, J. L. Haines, M. A. Pericak-Vance.

1109F   Whole genome sequencing association study for quantitative ultrasound of the calcaneus. S. G. Wilson, on behalf of UK10K Cohorts.

1110W   Targeted sequencing, augmented with public resources, identifies a rare C3 allele associated with large risk of age-related macular degeneration. X. Zhan, D. Larson, R. Fulton, C. Wang, D. Stambolian, E. Chew, E. Mardis, A. Swaroop, G. Abecasis.

1111T   DES is uniquely useful in the identification of multi-gene alterations: Oligogenic findings make up a significant portion of previously undiagnosed patients. K. Gonzalez, L. Shahmirzadi, E. Chao, S. Gandomi, M. Parra, B. Tippin Davis, W. Zeng, S. Tang.

1112F   Meta-analysis of rare variant associations for lipids metabolism traits. D. Liu, on behalf of Global Lipids Genetics Exome Array Consortium.

1113W   Exome-wide association study of fetal hemoglobin levels in African Americans with sickle cell disease. S. Lessard, G. Lettre.

1114T   Targeted sequencing identifies loci associated with sarcoidosis in African Americans. I. Adrianto, G. B. Wiley, A. M. Levin, S. B. Glenn, M. C. Iannuzzi, B. A. Rybicki, P. M. Gaffney, C. G. Montgomery.

1115F   Exome sequencing identifies variants in families with idiopathic scoliosis. E. Baschal, K. Swindle, K. Calbart, C. Wethey, K. Gowan, K. Jones, N. Miller.

1116W   Asthma: An omics view through discordant monozygotic twins. . R. Chen, G. I. Mias, S. Runyon, J. Li-Pook-Than, G. Euskirchen, P. Lacroute, K. C. Nadeau, M. Snyder.

1117T   Whole genome sequencing identifies genes and non-coding regions as modifiers of chronic Pseudomonas aeruginosa infection in cystic fibrosis. J. X. Chong, M. J. Emond, T. Louie, R. L. Gibson, M. J. Bamshad, NHLBI GO Exome Sequencing Project.

1118F   Exome chip analysis identifies rare variants associated with primary open angle glaucoma. M. D. Courtenay, R. K. Lee, D. L. Budenz, J. L. Haines, M. A. Pericak-Vance, W. K. Scott.

1119W   Identification of variants that confer susceptibility to Alzheimer disease in the Amish through exome sequencing. L. D'Aoust, A. C. Cummings, R. Laux, D. Fuzzell, L. Caywood, L. Reinhart-Mercer, W. K. Scott, M. A. Pericak-Vance, J. L. Haines.

1120T   Whole-genome sequencing of an Italian multiple sclerosis multiplex family identifies a novel functional variant in GRAMD1B. F. Martinelli Boneschi, F. Esposito, A. Osiceanu, A. Zauli, D. Cittaro, M. Sorosina, A. Calabria, D. Lazarevic, V. Maselli, P. Brambilla, G. Comi, E. Stupka.

1121F   Comprehensive genomic profiling of 66 cardiometabolic phenotypes by whole genome sequencing in 3,621 samples from the UK10K project. J. Min, UK10K Consortium Cohorts Group.

1122W   Functional annotation combined with evolutionary principles facilitate whole genome sequence analyses of complex traits: The Cohorts for Heart and Aging Research in Genetic Epidemiology Consortium. A. C. Morrison, F. Yu, J. Lu, A. Voorman, A. D. Johnson, J. Reid, X. Liu, D. Muzny, A. R. Folsom, C. J. O'Donnell, B. M. Psaty, L. A. Cupples, A. Clark, R. Gibbs, E. Boerwinkle, CHARGE Consortium.

1123T   Exome sequence variants associated with blood levels of hemostatic factors: The Cohorts for Heart and Aging Research in Genetic Epidemiology Consortium and the NHLBI Exome Sequencing Project. N. Pankratz, J. Brody, M. H. Chen, B. Davis, P. Wei, J. Reid, C. J. O’Donnell, N. L. Smith, A. C. Morrison, on behalf of CHARGE Hemostasis Working Group and ESP Hemostasis Working Group.

1124F   Exome sequencing study identifies several candidate variants associated with Kawasaki disease. Y. Park, J. Kim, J. Lee, Korean Kawasaki Disease Genetics Consortium.

1125W   On the association of common polygenic variation with body mass index in 7062 Han Chinese women using low pass sequencing: Genome-wide association, genetic risk scores, and GCTA. R. E. Peterson, T. B. Bigdeli, Y. Li, W. Kretzschmar, F. Yang, H. H. Maes, A. H. Fanous, S. Bacanu, B. P. Riley, J. Wang, S. Shi, Y. Chen, J. Marchini, R. Mott, K. S. Kendler, B. T. Webb, J. Flint, CONVERGE Consortium.

1126T   Rare functional variants in complement genes mitigate C3 inactivation and confer high risk of advanced age-related macular degeneration. S. Raychaudhuri, Y. Yu, E. C. Miller, R. M. Reynolds, P. L. Tan, S. Gowrisankar, J. I. Goldstein, M. Triebwasser, H. E. Anderson, J. Zerbib, D. Kavanagh, E. Souied, N. Katsanis, M. J. Daly, J. Atkinson, J. M. Seddon.

1127F   Exome sequencing in autism spectrum disorder. S. Walker, R. Yuen, B. Thiruvahindrapuram, L. Lau, C. R. Marshall, B. Fernandez, E. Fombonne, W. Roberts, L. Zwaigenbaum, P. Szatmari, S. W. Scherer.

1128W   Exome sequencing in schizophrenia quartets families identifies the patterns and rates of causal mutations and CNVs. D. Zhou, Z. Zhang, Y. Liu, L. He.

1129T   Identification of low frequency variants associated with albuminuria and kidney function in Danes with and without diabetes through exome-array analysis. T. S. Ahluwalia, J. Bork-Jensen, N. Grarup, R. Ribel-Madsen, J. M. Justesen, M. N. Harder, T. H. Sparsř, T. O. Kilpeläinen, T. Skaaby, C. Christensen, I. Brandslund, M. Aadahl, M. E. Jřrgensen, A. Linneberg, L. Husemoen, T. Lauritzen, T. Jřrgensen, T. Hansen, O. Pedersen.

1130F   Exome-wide association study for the identification of genes for primary open angle glaucoma. Z. Li, C. C. Khor, Y. Ikeda, L. Jia, L. J. Chen, M. Nakano, R. George, T. Do, K. Abu-Amero, L. S. Tajudin, C. Kee, O. Mineo, M. Takanori, M. Zhang, J. B. Jonas, T. N. Chau, N. Fuse, T. Y. Wong, J. J. Liu, D. F. Garway-Heath, C. P. Simmons, L. Vijaya, S. Kinoshita, C. P. Pang, N. L. Wang, R. R. Allingham, M. A. Hauser, K. Tashiro, T. Aung, E. N. Vithana.

1131W   Rare variant association of von Willebrand factor levels in a healthy young cohort of European individuals using HumanExome BeadChip data. A. B. Ozel, K. Desch, D. Siemieniak, D. Ginsburg, J. Li.

1132T   Exome chip-based association analysis identifies novel coding variants associated with adiposity traits in Hispanic Americans: The IRAS Family Study. N. Palmer, C. Gao, J. Norris, J. Rotter, L. Wagenknecht, D. Bowden, E. Speliotes, C. Langefeld.

1133F   A tool for co-segregation analysis using whole exome sequencing data. T. Gambin, B. Yuan, E. Boerwinkle, J. Lupski.

1134W   Summarizing polygenic relative risks due to risk alleles for common complex diseases for The MedSeq Project. S. W. Kong, C. A. MacRae, I. H. Lee, H. L. Rehm, P. Kraft, J. Krier, J. L. Vassy, R. C. Green, I. S. Kohane.

1135T   Whole exome sequencing of families with multiple cases of adolescent idiopathic scoliosis implicate novel mutations in FBN2, MESP2 and SNTG1. A. Sasson, J. P. Dormans, F. J. Salley, C. E. Kim, S. Deliard, J. Talarico, J. C. Perin, R. M. Chiavacci, H. Hakonarson, S. F. A. Grant.

1136F   Identification of de novo variants contributing to nonsyndromic cleft lip and palate. E. J. Leslie, K. M. Steinberg, D. C. Koboldt, C. Harris, D. E. Larson, R. S. Fulton, G. L. Wehby, J. T. Hecht, T. H. Beaty, A. Scott, M. L. Marazita, G. W. Weinstock, J. C. Murray.

1137W   Exome sequencing to identify de novo and rare recessive mutations in sporadic ALS. K. Meltz Steinberg, D. C. Koboldt, D. E. Larson, G. E. Sanderson, R. Pamphlett, E. R. Mardis.

1138T   Novel intellectual disability genes identified by exome sequencing. R. Rabionet, L. Domenech, O. Drechsel, M. Vińas, A. Puig, M. Gehre, S. Ossowski, I. Madrigal, M. Guitart, M. Mila, X. Estivill.

1139F   Rare coding variant association study of inflammatory bowel diseases. M. A. Rivas, T. Green, C. Stevens, J. H. Cho, J. D. Rioux, R. J. Xavier, M. J. Daly, NIDDK IBD Genetics Consortium.

1140W   Exome array identifies novel loci and rare variants associated with age-related macular degeneration. Y. Yu, S. Raychaudhuri, R. Reynolds, J. I. Goldstein, E. Souied, M. J. Daly, J. M. Seddon.

1141T   Exome sequencing in children with severe viral respiratory infections. S. Asgari, P. McLaren, J. Fellay.

1142F   Testing rare coding variation for an impact on HIV-1 viral load through exome sequencing. P. J. McLaren, P. R. Shea, D. B. Goldstein, J. Fellay.

1143W   Exome sequencing reveals a novel putative risk mutation for meningococcal disease. A. Ndungu, K. S. Elliott, T. C. Mills, A. Rautanen, P. Hutton, C. Garrard, A. Gordon, C. J. Hinds, A. V. S. Hill, S. J. Chapman, GAinS Investigators.

1144T   Cumulative effect of coding sequence variation in TLR6 and ENG influences risk of infectious complications in patients with Staphylococcus aureus bacteremia. W. K. Scott, D. M. Dykxhoorn, S. Guo, C. L. Nelson, T. Rude, F. Ruffin, A. S. Allen, Q. Yan, V. G. Fowler.

1145F   Implication of CDH1 in two familial cases of nonsyndromic cleft lip with or without cleft palate. L. A. Brito, G. Yamamoto, M. Aguena, M. R. Passos-Bueno.

1146W   Rare variants and risk for asthma in 7,224 individuals from ethnically diverse populations. C. Igartua, R. A. Myers, C. Ober, D. L. Nicolae, Eve Consortium.

1147T   Targeted next-generation sequencing and functional genomics in alopecia areata identifies ULBP6 as a critical node in its genetic architecture. L. Petukhova, E. Drill, Z. Dai, L. Bian, M. Duvic, M. Hordinsky, D. Norris, V. Price, R. Clynes, A. M. Christiano.

1148F   Exploring the genome for the secrets of human longevity. E. B. van den Akker, S. J. Pitts, M. H. Moed, S. Potluri, J. Deelen, J. J. Houwing-Duistermaat, D. R. Cox, M. J. T. Reinders, M. Beekman, P. E. Slagboom, Genome of The Netherlands Consortium.

1149W   Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare variant tests in Finland. R. Wang, V. Agarwala, J. Flannick, D. Altshuler, J. N. Hirschhorn.

1150T   De novo and inherited retrotransposon insertions associated with autism revealed by whole genome sequencing. X. Jin, A. Ewing, J. Ju, R. Yuen, J. Wu, Y. Jiang, M. Wang, A. Shih, Y. Li, J. Wang, S. Scherer, Z. Sun, H. Yang, H. Kazazian, J. Wang.

1151F   Exome sequencing of 55 multiply affected coeliac families and large scale resequencing follow-up. V. Mistry, N. A. Bockett, M. Muddassar, K. A. Hunt, S. L. Neuhausen, P. J. Ciclitira, V. Plagnol, D. A. van Heel.

1152W   Pathway analysis using whole exome sequencing in Parkinson disease. K. Nuytemans, V. Inchausti, L. Maldonado, W. Perry, E. R. Martin, G. W. Beecham, L. Wang, W. K. Scott, J. M. Vance.

1153T   Whole-genome sequencing in a multiplex nuclear family of schizophrenia to identify its rare susceptibility variants. S. C. Yu, H. Y. Chen, S. L. Yu, C. M. Liu, H. G. Hwu, W. J. Chen.

1154F   Contribution of rare variants in the development of gout in Japanese males. A. Taniguchi, C. Sekita, H. Kaneko, W. Urano, N. Ichikawa, H. Yamanaka.

1155W   Targeted sequencing of the pericentromeric region of chromosome 2 in Finnish constitutional delay of growth and puberty families. D. Cousminer, L. Dunkel, A. Palotie, E. Widén.

1156T   Population genetics of rare variants and complex diseases. R. Hernandez, M. Maher, L. Uricchio, D. Torgerson.

1157F   Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders. H. N. Cukier, N. D. Dueker, S. H. Slifer, J. M. Lee, P. L. Whitehead, E. Lalanne, N. Leyva, I. Konidari, R. C. Gentry, W. F. Hulme, D. Van Booven, V. Mayo, N. K. Hofmann, M. A. Schmidt, E. R. Martin, J. L. Haines, M. L. Cuccaro, J. R. Gilbert, M. A. Pericak-Vance.

1158W   Next-gen RNA sequencing of monocytes coupled with association data identifies several genes in systemic lupus erytrhematosus susceptibility. A. K. Maiti, C. Sun, P. Motghare, M. Arango, J.-M. Anaya, S. K. Nath.

1159T   Multiplexed targeted capture of FBN1 and FBN2 reveals association with adolescent idiopathic scoliosis. J. G. Buchan, D. M. Alvarado, P. Yang, C. Cruchaga, M. B. Harms, K. Ha, T. Zhang, M. C. Willing, D. K. Grange, T. E. Druley, A. C. Braverman, M. Lovett, M. B. Dobbs, C. A. Gurnett.

1160F   ImmunoSeq: Discovery of novel rare variants implicated in autoimmune and inflammatory diseases by targeting regulatory regions in immune cells. A. Morin, T. Kwan, K. Tandre, M. L. Eloranta, V. Arsenault, M. Caron, L. Létourneau, C. Wang, G. Bourque, C. Laprise, A. Montpetit, A. C. Syvänen, L. Rönnblom, M. Lathrop, T. Pastinen.

1161W   Novel candidate genes putatively involved in stress fracture predisposition detected by whole exome sequencing. E. Friedman, D. S. Moran, D. Ben- Avraham, R. Yanovich, G. Atzmon.

1162T   A possible role of transposable elements in dysregulating the genomic architecture of schizophrenia. F. Macciardi, G. Guffanti, S. G. Potkin, M. Pato, I. Guella, M. Vawter, J. A. Knowles, T. VanErp, C. Pato, S. Gaudi.

1163F   AMD risk and association with variation in 202 drug target genes. P. L. St. Jean, W. H. Cade, F. Grassmann, M. Schu, S. Slifer, Z. Ye, M. H. Brilliant, M. M. DeAngelis, L. A. Farrer, J. L. Haines, T. E. Kitchner, M. A. Pericak-Vance, B. H. F. Weber, L. McCarthy, C.-F. Xu, M. G. Ehm.

1164W   Matrix metalloproteinase 2, 3, 9, 10, 13 gene polymorphisms and risk for polycythemia and essential thrombocytosis patients. E. Uctepe, S. Maral, O. Bender, T. Yasar, E. Gunduz, M. Gunduz.

1165T   Race and sex effects on the relationship between sarcopenia and BMD. H. He, Y. J. Liu, J. Li, H. Shen, Q. Tian, H. W. Deng.

1166F   Unexpected pleiotropy: Do asthma and dental caries share a genetic basis? J. R. Shaffer, R. J. Weyant, R. Crout, D. W. McNeil, M. L. Marazita.

1167W   A pilot T1D risk prediction study using custom panel and advanced multivariate predictive models. C. Kim, Z. Wei, J. Glessner, K. Thomas, H. K. Ĺkerblom, M. Knip, H. Hakonarson, I. Ilonen.

1168T   Prediction of complex phenotypes, such as skin, eyes and hair color based on the analysis of polymorphisms of pigmentation genes for forensic purposes. F. T. Goncalves, F. A. Lima, R. S. Gonzales, C. Fridman.

1169F   Common dysfunctional variants of urate exporter gene ABCG2/BCRP are a major cause of early-onset gout. H. Matsuo, K. Ichida, T. Takada, A. Nakayama, H. Nakashima, T. Nakamura, Y. Kawamura, Y. Takada, K. Yamamoto, S. Shimizu, M. Sakiyama, T. Chiba, N. Hamajima, Y. Sakurai, T. Shimizu, N. Shinomiya.

1170W   Quantitative genetic analysis of preterm birth in a sample of 2 million births yields precise heritability estimates. W. Wu, A. Fraser, E. Clark, A. Rogers, G. Stoddard, D. Witherspoon, T. Manuck, K. Chen, S. Esplin, K. Smith, M. Varner, L. Jorde.

1171T   Visceral adiposity linked to chromosome 9p24.2 in adults from the Fels Longitudinal Study. B. Towne, J. Blangero, A. C. Choh, J. E. Curran, C. Bellis, T. D. Dyer, E. W. Demerath, M. Lee, S. A. Czerwinski.

1172F   Leveraging genetic information to assess the effect of diabetes on memory scores in the Health and Retirement Study. S. Walter, J. Daniel, L. Kubzansky, S. C. Chang, M. C. Cornelis, D. H. Rehkopf, M. M. Glymour.

1173W   Employing a phenome-wide association study approach to investigate the pleiotropic nature of mitochondrial DNA variation. S. L. Mitchell, S. A. Pendergrass, R. Goodloe, K. Brown-Gentry, R. McClellan, J. Boston, M. Allen, P. Mayo, N. Schnetz-Boutaud, D. G. Murdock, D. C. Crawford.

1174T   RNA-sequencing identifies novel differentially expressed coding and non-coding transcripts in Sjögren’s syndrome. C. J. Lessard, I. Adrianto, M. G. Dozmorov, G. B. Wiley, J. A. Ice, H. Li, J. A. Kelly, A. Rasmussen, S. B. Glenn, K. S. Hefner, D. U. Stone, G. D. Houston, D. M. Lewis, J. A. Lessard, J. M. Anaya, B. M. Segal, N. L. Rhodus, L. Radfar, J. B. Harley, J. A. James, C. G. Montgomery, R. H. Scofield, P. M. Gaffney, J. D. Wren, K. L. Sivils.

1175F   Genetically distinct subtypes of rheumatoid arthritis. B. Brynedal, L. Klareskog, L. Padyukov, L. Alfredsson, H. Källberg.

1176W   Assessing human craniofacial morphology as complex phenotype in genetic association studies. F. I. Martinez.

1177T   SNPs and smoking: What can the aggregate of genome-wide SNPs tell us about genetic liability to smoking initiation and quantity smoked? A. G. Wills, M. C. Keller.

1178F   Endometrial expression profiling in women with recurrent early pregnancy loss. G. Kosova, C. Billstrand, V. J. Lynch, M. D. Stephenson, C. Ober.

1179W   Association study of ERCC3 genetic variations with nasal polyposis in asthmathics. J. H. Kim, B. L. Park, C. S. Park, H. D. Shin.

1180T   Examining ocular SNPs for regulatory enhancer potential: What does a non-coding GWAS hit really mean? C. N. Simonti, J. A. Capra.


Psychiatric Genetics, Neurogenetics and Neurodegeneration

 

1181W   AutDB: A modular database for accelerating ASD genetic research. E. Larsen, U. Kuppuswamy, S. Banerjee-Basu.

1182T   General financial risk factors for risk and ambiguity associated respectively with dopamine D4 receptor (DRD4) and serotonin transporter (5-HTTLPR). R. P. Ebstein, M. Monakhov, S. H. Chew.

1183F   A molecular genetic study of amyotrophic lateral sclerosis/parkinsonism-dementia complex in Kii Peninsula of Japan. H. Ishiura, Y. Fukuda, B. Ahsan, J. Mitsui, Y. Kokubo, S. Kuzuhara, S. Yoshida, T. Kihira, J. Yoshimura, K. Doi, K. Higasa, S. Morishita, A. Toyoda, A. Fujiyama, R. Kuwano, K. Hara, M. Nishizawa, J. Goto, S. Tsuji.

1184W   HLA-DQB1*03:02 is associated with narcolepsy in the Japanese population. T. Miyagawa, H. Toyoda, A. Hirataka, S. S. Khor, M. Yamasaki, Y. Honda, M. Honda, K. Tokunaga.

1185T   Association between the dopamine D4 receptor (DRD4) and political ideology in a large Singapore Han Chinese sample. M. Monakhov, S. H. Chew, R. P. Ebstein.

1186F   An approach to complex disease modifier genes and mouse-to-human translation: Transcriptome analysis of mouse strains reveals Alzheimer disease modifier gene. T. Morihara, N. Hayashi, H. Akatsu, M. Silverman, M. Yokokoji, N. Kimura, M. Sato, K. Kamino, Y. Yamagichi, T. Tsunoda, T. Tanaka, M. Takeda.

1187W   Expression of neurotransmitter receptors and regulators genes in peripheral blood of a drug-naïve first-episode psychosis sample before and after antipsychotic treatment. M. L. Santoro, V. K. Ota, C. S. Noto, A. Gadelha, P. N. Silva, M. I. Melaragno, M. A. C. Smith, Q. Cordeiro, R. A. Bressan, S. I. Belangero.

1188T   The cerebral glucose transporter SLC45A1 is mutated in individuals with non-syndromic intellectual disability and epilepsy. M. Srour, N. Shimokawa, F. F. Hamdan, S. Dobrzeniecka, G. A. Rouleau, C. Poulin, J. L. Michaud.

1189F   Adducin function is essential for sustained changes in neuronal activity upon learning. V. Vukojevic, F. Peter, P. Demougin, N. Hadziselimovic, J.-F. de Quervain, A. Papassotiropoulos, A. Stetak.

1190W   Influence of Alzheimer’s disease genes on cognitive decline: The Guangzhou Biobank Cohort Study. S. S. Cherny, H. S. Gui, L. Xu, P. C. Sham, C. Q. Jiang, T. H. Lam, B. Liu, Y. L. Jin, T. Zhu, W. S. Zhang, G. N. Thomas, K. K. Cheng.

1191T   Fine mapping and association analysis of candidate genes for autism spectrum disorder and language impairment in the NJLAGS sample. A. Hare, A. Seto, J. Flax, M. Azaro, S. Buyske, C. Bartlett, L. Brzustowicz.

1192F   TRPM8 variants that protect from migraine make individuals less susceptible to cold pain. M. A. Kaunisto, E. J. Holmström, V. Anttila, M. Kallela, E. Hämäläinen, A. Stubhaug, M. Wessman, C. S. Nielsen, E. Kalso, A. Palotie.

1193W   The role of CNTNAP2 in a developmental language disorder and potential mechanisms. N. Li, S. L. Wolock, S. A. Petrill, J. F. Flax, A. S. Bassett, L. M. Brzustowicz, C. W. Bartlett.

1194T   Association of language impairment with language, reading, and ADHD candidate genes. S. Smith, J. Gayan, M. Rice.

1195F   Molecular delineation of the 1p36.3 locus and candidate gene resequencing in 363 patients with polymicrogyria. S. Beijnsberger, G. L. Carvill, S. F. Berkovic, I. E. Scheffer, W. B. Dobyns, H. C. Mefford.

1196W   Application of customized CGH-array for mGluR genes in attention deficit/hyperactivity disorder. R. Pellegrino, C. Kao, L. Vazquez, D. Hadley, A. Kini, J. Glessner, H. Hakonarson.

1197T   FOXG1 is implicated in abnormal brain development in two unrelated cases with 14q aberrations. G. Macintyre, K. Schlade-Bartusiak, M. L. Martínez-Fernández, M. L. Martinez-Frías, R. Arteaga, P. O'Brien, M. A. Ferguson-Smith, D. W. Cox.

1198F   Uncovering obsessive-compulsive disorder risk genes using a high-resolution genome-wide CNV approach. M. J. Gazzellone, S. M. Shaheen, B. Li, R. J. Schachar, A. C. Lionel, B. Thiruvahindrapduram, M. Uddin, K. D. Fitzgerald, C. R. Marshall, D. R. Rosenberg, N. Soreni, G. L. Hanna, P. D. Arnold, S. W. Scherer.

1199W   Family structure is predictive of genetic architecture in autism spectrum disorders. K. Schmitz-Abe, M. Chahrour, T. Yu, S. Hill, G. Sanchez-Schmitz, J. Partlow, B. Barry, B. Mehta, S. Servattalab, A. Ngoc Lam, C. Walsh, K. Markianos.

1200T   Susceptibility loci for pigmentation and melanoma in relation to Parkinson’s disease. J. Dong, J. Gao, M. Nalls, X. Gao, X. Huang, J. Han, A. Singleton, Intl. Parkinson's Dis. Genomics Consortium, H. Chen.

1201F   Genetic risk factors in Utah pedigrees at high risk for suicide. H. Coon, R. Pimentel, K. R. Smith, C. Huff, H. Hu, L. Jerominski, J. Hansen, M. Klein, W. B. Callor, J. Byrd, A. Bakian, S. Crowell, W. M. McMahon, E. McGlade, D. Yurgelun-Todd, P. Renshaw, T. Grey, D. Gray.

1202W   Association study of BDNF with completed suicide in the Japanese population. A. Hishimoto, W. Ratta-apha, K. Shiroiwa, I. Sora.

1203T   Rare and common variants near CHRNB3-CHRNA6 are associated with cocaine dependence. B. Sadler, G. Haller, N. Saccone, L. Bierut, A. Goate, Study of Addiction, Genetics and Environment (SAGE) Collaborators.

1204F   De novo deletion of 1q21.1 and Xq28 duplication in a family with developmental delay. K. Ha, H. Cho, L. Layman, H. Kim.

1205W   The first familial null mutation of an autism susceptibility gene in autism spectrum disorder. N. Lambert, V. Wermenbol, B. Pichon, S. Acosta, J. van den Ameele, C. Perazzolo, D. Messina, F. Musumeci, B. Dessars, A. De Leener, M. Abramowicz, C. Vilain.

1206T   Use of a custom-designed array-CGH to identify small CNVs in nonsyndromic autism spectrum disorders. C. M. Ribeiro, E. S. Moreira, A. L. B. Martins, A. G. Morales, S. G. Ferreira, V. N. Takahashi, D. P. Moreira, K. Griesi-Oliveira, A. C. F. Conte, C. Rosenberg, E. Vadasz, M. R. Passos-Bueno.

1207F   Linkage disequilibrium mapping of the 13q21 specific language impairment locus using epistasis analysis models. S. L. Wolock, N. Li, S. A. Petrill, J. F. Flax, A. S. Bassett, L. M. Brzustowicz, C. W. Bartlett.

1208W   Evidence for the involvement of MIR185 and its target genes in the development of schizophrenia. A. J. Forstner, F. B. Basmanav, M. Mattheisen, A. C. Böhmer, M. V. Hollegaard, E. Janson, E. Strengman, L. Priebe, F. Degenhardt, P. Hoffmann, S. Herms, W. Maier, R. Mössner, D. Rujescu, R. A. Ophoff, S. Moebus, P. B. Mortensen, A. D. Břrglum, D. M. Hougaard, M. Rietschel, A. Zimmer, M. M. Nöthen, X. Miro, S. Cichon.

1209T   Identification of novel mutations in SLC20A2 and PDGFRB in a brain bank series of IBGC. M. Sanchez-Contreras, M. Baker, N. Finch, A. Nicholson, A. Wojtas, A. J. Strongosky, D. B. Calne, S. Calne, A. J. Stoessl, J. E. Allanson, D. F. Broderick, M. Hutton, D. W. Dickson, O. A. Ross, Z. K. Wszolek, R. Rademakers.

1210F   Extreme genetic heterogeneity among rare copy number variation in autism spectrum disorders. M. Barbosa, A. G. Chiocchetti, D. Haslinger, R. Waltes, E. Duketis, T. Jarczok, M. Sachse, F. Poustka, A. Voran, E. Huy, F. Degenhardt, S. Herms, P. Hoffmann, J. Meyer, M. M. Biscaldi-Schäfer, K. Schneider-Momm, B. G. Schimmelmann, S. Kupferschmid, B. Herpertz-Dahlmann, S. Gilsbach, S. Moebus, S. Cichon, S. M. Klauck, D. Pinto, C. M. Freitag.

1211W   Different homozygous mutations in PARKIN gene are responsible for early onset Parkinson's disease in Arab-Israeli families that live in close vicinity. S. Ben-Shachar, Z. Afawi, R. Masalha, S. Badarny, T. Neiman, A. Bar-Shira, A. Orr Urtreger.

1212T   Transcriptome outlier analysis implicates schizophrenia candidate genes as harboring rare functional variants of large effects. J. Duan, W. Moy, J. Freda, E. I. Drigalenko, H. H. H. Göring, A. R. Sanders, P. V. Gejman, Molecular Genetics of Schizophrenia Collaboration.

1213F   Molecular genetic study on a Japanese family with amyotrophic lateral sclerosis. Y. Ichikawa, H. Ishiura, J. Mitsui, S. Endo, Y. Takahashi, A. Ishii, M. Watanabe, A. Tamaoka, M. Murata, K. Doi, J. Yoshimura, S. Morishita, J. Goto, S. Tsuji.

1214W   Association between serotonin transporter variant, 5-HTTLPR, and hoarding traits in a population-based pediatric sample. V. Sinopoli, A. Dupuis, C. Burton, J. Crosbie, J. Shan, R. Schachar, P. Arnold.

1215T   Disruption of a large intergenic noncoding RNA, FLJ42709, is associated with developmental delay and language disorder. S. Fan, L. Dukes-Rimsky, S. Ladd, B. R. DuPont, C. Skinner, L. Wang, K. B. Clarkson, A. K. Srivastava.

1216F   Gene-based association analysis of Alzheimer’s disease risk gene CD33 with brain amyloid-β burden and microglial activity measured by PET. K. T. Nho, S. Shanker, S. Kim, S. L. Risacher, V. K. Ramanan, L. Shen, K. K. Yoder, P. S. Aisen, R. C. Petersen, M. W. Weiner, B. C. McDonald, E. F. Tallman, G. D. Hutchins, J. W. Fletcher, M. R. Farlow, B. Ghetti, A. J. Saykin, for Alzheimer's Disease Neuroimaging Initiative (ADNI).

1217W   Association of ADH and ALDH variants with alcohol-related phenotypes in a Native American community sample. Q. Peng, I. R. Gizer, O. Libiger, C. Bizon, K. C. Wilhelmsen, N. J. Schork, C. L. Ehlers.

1218T   Characterization and replication of chromosome 15q25 nicotine dependence signals in an old order Amish population. J. D. Backman, A. D. Million-Mrkva, L. E. Hong, M. A. Ehringer, B. D. Mitchell, A. R. Shuldiner, K. A. Ryan, K. L. Nugent, S. H. Stephens.

1219F   Phospholipid flippase ATP8A2 is essential for normal visual and auditory function and photoreceptor and spiral ganglion cell survival. X. Zhu, Y. Zhou, X. Zhu.

1220W   Mutations in secretin receptor may be related to autism spectrum disorder. K. Kojima, T. Yamagata, A. Matsumoto, Z. Yang, S. Nakamura, E. F. Jimbo, M. Y. Momoi.

1221T   Hypermethylation of the enolase gene (ENO2) in autism: A candidate biomarker for screening. N. Zhong, Y. Wang.

1222F   Application of causal inference methods to investigate APOE variation and cognitive impairment in multiple sclerosis. E. Elboudwarej, P. Yousefi, L. Shen, M. F. George, H. Quach, F. B. S. Briggs, A. Bernstein, C. Schaefer, L. F. Barcellos.

1223W   Social skills impairments in girls with Turner syndrome. M. Inbar-Feigenberg, D. Grafodatskaya, S. Choufani, B. H. Y. Chung, L. J. Roberts, C. Russell, W. Roberts, J. Hamilton, R. Weksberg.

1224T   Examining the role of the 1q deletion critical region gene SCCPDH in early brain development in zebrafish. E. A. Burke, W. A. Gahl, C. F. Boerkoel.

1225F   Investigation of the role of serotonin pathway in the etiology of Tourette’s syndrome. N. Sun, Z. Pang, L. Deng, R. A. King, M. Sheldon, J. C. Moore, R. P. Hart, M. Konsolaki, G. A. Heiman, J. A. Tischfield.

1226W   Distinguishing autism spectrum disorders from other developmental delays using blood RNA-seq. S. Letovsky, M. Causey, M. Aryee, J. Skoletsky, C. Proulx, F. R. Sharp, I. N. Pessah, R. Hansen, J. Gregg, I. Hertz-Picciotto.

1227T   A 3.1 Mb deletion at 2q22.1-q22.3 including NXPH2 gene in a boy with intellectual disability. N. Yoshihara, K. Kurosawa, I. Oohashi, Y. Kuroda, H. Osaka, S. Yamashita, M. Iai, K. Takano, M. Okuda, M. Takagi, R. Anzai, T. Wada.

1228F   Mutation spectrum in the dystrophin gene disclosed by MLPA in 181 Vietnamese Duchenne/Becker muscular dystrophy patients. K. V. Tran, H. N. Do, T. H. Tran, M. H. Ta, A. T. P. Le, D. C. Vu, V. T. Ta, M. Matsuo.

1229W   Underlying genetic etiologies in epilepsy patients: A retrospective large single centre study. A. Guerin, E. Imhof, M. Zak, S. Mercimek-Mahmutoglu.

1230T   A useful approach for the genetic diagnosis of infectious agents using next-generation sequencing. Y. Sakiyama, Y. Higuchi, H. Tanabe, J. Yuan, S. Nozuma, A. Yoshimura, A. Hashiguchi, Y. Okamoto, R. Hirano, E. Matsuura, R. Okubo, T. Iwasaki, F. Matsuda, S. Izumo, H. Takashima.

1231F   Decreased tryptophan metabolism: The biochemical fingerprint of autism spectrum disorders. L. Boccuto, C. F. Chen, A. R. Pittman, C. D. Skinner, H. J. McCartney, K. Jones, B. R. Bochner, R. E. Stevenson, C. E. Schwartz.

1232W   Genetic evaluation of hereditary spastic paraplegia. S. Schirmer, Z. Kohl, T. Rödl, M. Becher, J. Winkler, U. Hehr.

1233T   Functional analysis of the autism and intellectual disability gene PTCHD1 reveals interactions in synapses and involvement in the Hedgehog pathway. K. Mittal, K. Sritharan, B. Degagne, J. Vincent.

1234F   GABRB2 in schizophrenia. H. Xue.

1235W   Association between emotional memory and genetic polymorphisms on histone deacetylase 5. F. R. Hartmann, D. J.-F. de Quervain, A. Papassotiropoulos, A. Heck.

1236T   CMYA5, a candidate gene for schizophrenia: Expression in the brain and the effect of a functional variant on binding. A. Hsiung, R. Shiang, X. Chen.

1237F   Association of NTRK2 and emotional processing in healthy young subjects. K. Spalek, A. Heck, D. Coynel, D. J.-F. de Quervain, A. Papassotiropoulos.

1238W   PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders. L. Paemka, V. B. Mahajan, J. M. Skeie, L. P. Sowers, S. N. Ehaideb, P. Gonzalez-Alegre, T. Sasaoka, H. Tao, A. Miyagi, N. Ueno, S. Wu, B. W. Darbro, P. J. Ferguson, A. A. Pieper, J. K. Britt, J. A. Wemmie, D. S. Rudd, T. Wassink, H. El-Shanti, H. C. Mefford, G. L. Carvill, J. R. Manak, A. G. Bassuk.

1239T   Altered dose-response relationships in addiction genetics. G. R. Uhl, J. Drgonova, F. S. Hall.

1240F   Alzheimer’s disease risk gene CD33 inhibits microglial uptake of amyloid beta. A. Griciuc, A. R. Parrado, A. Serrano-Pozo, A. N. Lesinski, C. N. Asselin, K. Mullin, B. Hooli, S. H. Choi, L. Bertram, B. T. Hyman, R. E. Tanzi.

1241W   Involvement of non-Hsa21 genes and microRNAs provide etiological basis for abnormal phenotypes in pathogenesis of Down syndrome. A. Pathak, S. R. Phadke.

1242T   Induced pluripotent stem cell derived neural cells and Parkinson's disease-associated rare variants. K. Belle, J. M. Van Baaren, A. Liu, J. A. Vance, D. M. Dykxhoorn.

1243F   More than ER stress: Molecular mechanism for misfolded PLP1 that impacts subcellular dynamics and clinical severity of Pelizaeus-Merzbacher disease. Y. Numata, T. Morimura, S. Nakamura, E. Hirano, S. Kure, Y. Goto, K. Inoue.

1244W   Potential regulatory functions of late-onset Alzheimer's disease associated variants. S. L. Rosenthal, M. M. Barmada, X. Wang, F. Y. Demirci, O. L. Lopez, M. I. Kamboh.

1245T   A functional variation in the CHRNB3 promoter affects Parkinson's disease risk and smoking. A. Bar-Shira, M. Gana-Weisz, Z. Gan-Or, E. Giladi, N. Giladi, A. Orr-Urtreger.

1246F   Identification of microRNA expression quantitative trait loci in the nucleus accumbens of human postmortem brains from alcohol dependent subjects and matched controls. M. Mamdani, V. Williamson, G. McMichael, B. Riley, K. Kendler, V. Vladimirov.

1247W   Behavioral and neurochemical characterization of mutant mice lacking Lphn3, a gene implicated in ADHD and addiction. D. Wallis, C. A. Orsini, B. Setlow.

1248T   Induced pluripotent stem cells to model Tourette’s syndrome. L. Deng, N. Sun, Z. Pang, R. A. King, M. Sheldon, J. C. Moore, R. P. Hart, M. Konsolaki, M. State, G. A. Heiman, J. A. Tischfield.

1249F   Forgetting in C. elegans is regulated via Musashi (msi-1)-mediated translational control of the Arp2/3 complex. N. O. Hadziselimovic, F. Peter, P. Hieber, V. Vukojevic, P. Demougin, D. J. F. de Quervain, A. Papassotiropoulos, A. Stetak.

1250W   Transcriptional impact of POLR3A and POLR3B mutations in Pol III-related hypomyelinating leukodystrophies. K. Choquet, S. Durrieu, G. Boldina, M.-J. Dicaire, D. Forget, K. Guerrero, B. Coulombe, M. Teichmann, G. Bernard, B. Brais.

1251T   The NINDS Repository: A unique resource of patient-derived, highly characterized primary fibroblasts and induced pluripotent stem cells for neurodegenerative disease research. C. A. Pérez, S. Heil, S. Gandre-Babbe, C. Rhoda, K. Panckeri, M. Self, K. Hodges, M. Shutherland, R. A. Corriveau, C. Tarn.

1252F   Understanding the risk pathway from GABRA2 to alcoholism: Effects of personality, brain, development and gene x environment interactions. M. Burmeister, S. Villafuerte, E. M. Trucco, M. Heitzeg, R. A. Zucker.

1253W   Investigation of maternal stress among women who carry the FMR1 premutation who are mothers of a child with fragile X syndrome: Involvement of the corticotrophin-releasing hormone receptor 1 gene to impact maternal well-being. J. E. Hunter, A. Lori, D. Hamilton, L. Shubeck, A. Abramowitz, J. F. Cubells, S. L. Sherman.

1254T   Advanced paternal age is associated with earlier onset of schizophrenia in the affected siblings of multiplex families. W. J. Chen, S. H. Wang, C. K. Hsiao, C. M. Liu, H. G. Hwu.

1255F   Parents and teachers report on different aspect of children's and adolescent's conduct disorder and hyperactivity/inattention behavior. X. W. Zhang, P. C. Sham, S. S. Cherny, H. Q. Meng, Y. X. Fu, Y. Huang, T. Li.

1256W   Association of APOE polymorphism and stressful life events with dementia in the Pakistani population. M. Chaudhry, S. Hasnain, B. Snitz, X. Wang, D. Winger, L. Wang, S. Rosenthal, F. Y. Demirci, M. I. Kamboh.

1257T   Association between MAOA and aggressive behavior in adolescents receiving the pharmaceutical treatment lisdexamfetamine dimesylate for ADHD symptoms. K. A. Nelson, A. Stoker, P. Huizenga, S. Weaver, T. Jung, E. A. Ehli, T. J. Soundy, K. Bohlen, Y. Hu, G. E. Davies.

1258F   Psychosocial factors are correlated with gender-sensitive differences in relative telomere length in Han Chinese university undergraduates. O. Yim, M. Monakhov, X. Zhang, P. S. Lai, S. H. Chew, R. P. Ebstein.

1259W   A translational approach for cocaine abuse: From man to mouse to man. R. F. Clark, E. Solano, M. J. Edlund, N. R. Garge, E. O. Johnson.

1260T   The impact of the metabotropic glutamate receptor and other gene family interaction networks on the autism spectrum disorders. D. Hadley, Z. Wu, C. Kao, A. Kini, A. Mohamed-Hadley, K. Thomas, L. Vazquez, H. Qiu, F. Mentch, R. Pellegrino, C. Kim, J. Glessner, H. Hakonarson, Autism Genome Project Consortium.

1261F   The potential use of uncommon variants in GWAS data sets of pedigrees with autism spectrum disorders. H. Z. Wang, H. Qin, K. Ahn, W. Guo, Y. Y. Shugart.

1262W   Genome-wide scan identifies candidate loci for gene-gene interactions affecting relationships between Aβ42, p-tau, and disease status. M. T. W. Ebbert, P. G. Ridge, K. Boehme, M. Bailey, C. Cruchaga, A. Goate, S. Bertelsen, C. D. Corcoran, T. Maxwell, J. S. K. Kauwe, Alzheimer's Disease Genetic Consortium.

1263T   Family-based genome-wide association study of resting EEG identifies UROC1 and neurotransmitter biosynthetic process. S. Kang, M. Rangaswamy, D. Chorlian, N. Manz, B. Porjesz, COGA Collaborators.

1264F   Association between rs10520400 and caudate nucleus asymmetry in Alzheimer's disease and mild cognitive impairment. M. E. Renteria, P. Rajagopalan, S. E. Medland, S. K. Madsen, J. L. Stein, D. P. Hibar, N. G. Martin, M. J. Wright, P. M. Thompson, Alzheimer’s Disease Neuroimaging Initiative.

1265W   Scan for rare copy-number variation in 11,850 Swedish schizophrenia samples suggests novel susceptibility loci and provides evidence for convergence with regions of common variant association. C. O'Dushlaine, J. Szatkiewicz, J. Moran, K. Chambert, A. Kähler, C. Hultman, P. Sklar, S. Purcell, S. McCarroll, P. Sullivan.

1266T   Genome-wide association study for domain-specific cognitive function. H. Milo Rasouly, J. Chung, R. Au, L. A. Farrer, G. Jun.

1267F   Williams syndrome: Ribosomal profiling reveals genome-wide alterations in protein synthesis. R. Weiss, L. Dai, J. R. Korenberg.

1268W   A genome-wide association study of epilepsy in a multi-ethnic cohort. J. P. Bradfield, Z. Wei, C. Kim, R. Chiavacci, F. Mentch, W. Lo, M. R. Sperling, D. J. Dlugos, T. N. Ferraro, R. J. Buono, H. Hakonarson.

1269T   Analysis of onset age in late-onset Alzheimer disease genome-wide association data identifies novel onset age loci and confirms the predominance of APOE. A. C. Naj, G. Jun, C. Reitz, B. Kunkle, W. Perry, Y. S. Park, G. W. Beecham, R. Rajbhandary, K. L. Hamilton-Nelson, L. S. Wang, J. S. K. Kauwe, E. R. Martin, J. L. Haines, R. Mayeux, L. A. Farrer, G. D. Schellenberg, M. A. Pericak-Vance, Alzheimer's Disease Genetics Consortium.

1270F   Mapping autism spectrum disorder susceptibility loci in Hispanic or Latino populations. Y. S. Park, N. Dueker, J. Jaworski, I. Konidari, P. L. Whitehead, C. D. Bustamante, J. L. Haines, M. A. Pericak-Vance, M. L. Cuccaro, E. R. Martin.

1271W   Genome-wide association study of age at onset of alcohol dependence in large COGA families. M. Kapoor, J. C. Wang, L. Wetherill, S. Bertelsen, J. Budde, L. Nhung, A. Agrawal, V. Hesselbrock, J. Rice, J. Nurnberger, L. Bierut, T. Foroud, A. Goate.

1272T   Genetic determinants of the natural history of Alzheimer’s. X. Wang, O. L. Lopez, R. A. Sweet, M. M. Barmada, F. Y. Demirci, M. I. Kamboh.

1273F   A genome-wide association study of the response to cognitive behavioral therapy in children with anxiety disorders. J. R. I. Coleman, K. Lester, C. Curtis, J. L. Hudson, C. Creswell, G. Breen, T. C. Eley.

1274W   Genome-wide association study of shared components of reading disability and language impairment. J. D. Eicher, N. R. Powers, L. L. Miller, S. M. Ring, J. R. Gruen, Pediatric Imaging, Neurocognition, and Genetics Study.

1275T   A genome-wide association between migraine in bipolar disorder and neurobeachin. K. K. Jacobsen, S. Johansson, C. M. Nievergelt, T. Zayats, T. A. Greenwood, H. S. Akiskal, J. Haavik, O. B. Fasmer, J. R. Kelsoe, K. J. Oedegaard, BiGS Consortium.

1276F   Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia. S. S. Khor, T. Miyagawa, H. Toyoda, M. Yamasaki, Y. Kawamura, H. Tanii, Y. Okazaki, T. Sasaki, L. Lin, J. Faraco, T. Rico, Y. Honda, M. Honda, E. Mignot, K. Tokunaga.

1277W   Genome-wide association study and admixture mapping of age-related cognitive decline in African Americans. T. Raj, L. B. Chibnik, C. McCabe, B. Stranger, H. Hendrie, L. Barnes, T. Foroud, J. M. Murrell, D. A. Bennett, K. S. Hall, D. A. Evans, P. L. De Jager.

1278T   Genome-wide association study of growth rate and energy status in lymphoblastoid cell lines. A. R. Sanders, W. Moy, H. H. H. Göring, J. Freda, D. He, S. L. Fuentes, J. Duan, P. V. Gejman, Molecular Genetics of Schizophrenia (MGS) Collaboration.

1279F   Distinct genetic contributions to Tourette syndrome and obsessive compulsive disorder as revealed by cross-disorder genome-wide studies. D. Yu, on behalf of TS GWAS Consortium, TSAICG, and IOCDFGC.

1280W   Coding variations and the risk of adult ADHD: An exome-chip association study in adult ADHD from the IMpACT. T. Zayats, S. Johansson, J. Haavik, IMPACT Consortium.

1281T   Genome-wide association study of rate of cognitive decline in six Alzheimer’s disease cohorts. R. Sherva, A. L. Gross, S. Mukherjee, S. Newhouse, J. Kauwe, L. Munsie, A. J. Saykin, D. A. Bennett, L. B. Chibnik, P. Kraft, P. K. Crane, R. C. Green, Alzheimer’s Disease Neuroimaging Initiative and GENAROAD Consortium.

1282F   Rare variant discovery in late-onset Alzheimer’s disease using exome arrays. L.-S. Wang, A. C. Naj, C. Cruchaga, S. Mukherjee, R. Graham, B. Kunkle, A. Partch, L. Cantwell, P. Crane, A. M. Goate, J. L. Haines, R. Mayeux, L. Farrer, M. A. Pericak-Vance, T. Behrens, G. D. Schellenberg, Alzheimer’s Disease Genetics Consortium.

1283W   A noise-reduction GWAS in multiple sclerosis. J. P. Hussman, A. H. Beecham, M. Schmidt, J. L. McCauley, J. L. Haines, M. A. Pericak-Vance, International Multiple Sclerosis Genetics Consortium.

1284T   Genome-wide association study of alcohol consumption in the Kaiser Permanente/UCSF Genetic Epidemiology Research on Adult Health and Aging Cohort. E. Jorgenson, L. Shen, T. Hoffmann, M. Kvale, Y. Banda, D. Ranatunga, N. Risch, C. Schaefer, C. Weisner, J. Mertens.

1285F   Transethnic genome-wide meta-analysis of Alzheimer disease in Alzheimer’s Disease Genetics Consortium. G. Jun, J. Chung, J. Kozubek, C. Reitz, B. N. Vardarajan, K. L. Lunetta, J. L. Haines, M. A. Pericak-Vance, R. Kuwano, R. Mayeux, G. D. Schellenberg, L. A. Farrer, Alzheimer's Disease Genetics Consortium.

1286W   Pathway-based polygenic scores and variation explained by functional SNPs in schizophrenia. K. K. Nicodemus, G. Donohoe, D. Tropea, D. Morris, K. Kendler, F. O'Neill, D. Walsh, B. Riley, M. Gill, A. Corvin, Wellcome Trust Case Control Consortium 2.

1287T   Meta analysis identifies TSNARE1 as novel schizophrenia/bipolar susceptibility locus. P. Sleiman, D. Wang, J. Glessner, D. Hadley, R. E. Gur, N. Cohen, Q. Li, H. Hakonarson, Janssen-CHOP Neuropsychiatric Genomics Working Group.

1288F   Psychiatric Genomics Consortium quadruples schizophrenia GWAS sample-size to 35,000 cases and 47,000 controls. S. Ripke, Schizophrenia Group of Psychiatric Genomics Consortium.

1289W   Polymorphisms in the CACNA1C gene region and amygdala activation during encoding of negative emotional stimuli. L. Gschwind, C. Vogler, D. Coynel, A. Milnik, V. Freytag, K. Spalek, D. de Quervain, A. Papassotiropoulos.

1290T   Genetic variation underlying amygdala-volume is highly enriched with schizophrenia susceptibility variants in healthy young individuals. P. Lee, A. Holmes, P. Gallagher, L. Germine, M. Hollinshead, J. Roffman, R. Buckner, J. Smoller.

1291F   Brain N-acetylaspartate is Increased in mouse models of Pelizaeus-Merzbacher disease: Implication for human imaging findings. K. Inoue, Y. Itoh, S. Saito, I. Aoki, J. Barkovich, J. Takanashi.

1292W   SZT2 mutations in infantile encephalopathy with epilepsy and callosal dysgenesis. L. Basel-Vanagaite, T. Hershkovitz, E. Heyman, M. Raspall-Chaure, N. Kakar, P. Smirin-Yosef, M. Vila-Pueyo, L. Korenreich, H. Thiele, H. Bode, I. Lagovsky, D. Dahary, A. Haviv, M. Pasmanik-Chor, P. Nürnberg, C. Kubisch, M. Shohat, A. Macaya, G. Borck.

1293T   Association between Alzheimer’s genetic risk scores and hippocampal and amygdala volume. M. K. Lupton, W. Wen, K. Mather, H. Brodaty, D. Ames, J. N. Trollor, N. J. Armstrong, A. Simmons, S. Lovestone, J. F. Powell, P. S. Sachdev, M. J. Wright, GERAD1 Consortium, Addneuromed Consortium, Alzheimer’s Disease Neuroimaging Initiative.

1294F   Genome-wide linkage analysis suggests oligogenic regulation of the human parieto-occipital 10-Hz rhythmic activity. E. Salmela, H. Renvall, M. Vihla, J. Kujala, R. Salmelin, J. Kere.

1295W   Genetic resilience to neurodegeneration in the presence of tau pathology. T. Hohman, M. Koran, T. Thornton-Wells.

1296T   Genetic interactions found between calcium channel genes modulate amyloid load measured by positron emission tomography. M. Koran, T. Hohman, T. Thornton-Wells, Alzheimer's Disease Neuroimaging Initiative.

1297F   Genetic interactions within inositol-related pathways are associated with longitudinal changes in ventricle size. T. Thornton-Wells, T. Hohman, S. Meda, M. Koran.

1298W   Associations of the rs4818 polymorphism in the COMT gene with demyelination of the inferior longitudinal fasciculus in the white matter of the brain and cognition in schizophrenia patients. Z. Kikinis, K. Green, M. Giwerc, S. Bouix, N. Makris, N. Schreiber, G. Corfas, R. Kucherlapati, R. Kikinis, M. Kubicki, M. E. Shenton.

1299T   Identification of robust biomarkers of neuronal and glial metabolic changes in spinocerebellar ataxia type 1,2,3 and 7. F. Mochel, I. Mawusi, T. M. Nguyen, D. Rinaldi, C. Jauffret, R. Valabregue, P. G. Henry, A. Brice, A. Durr.

1300F   Analysis of structural variants in the DISC1 gene: Association test with P300 ERP and brain volumes. V. De Luca, G. Spalletta.

1301W   Clinical and molecular investigation of spinocerebellar ataxia with hypogonadism: Not so far, not so close. C. Lourenco, C. Sobreira, P. Frassinete de Medeiros, M. Gonzalez, F. Speziani, S. Zuchner, W. Marques, Jr.

1302T   Novel ATM mutation in late-onset autosomal recessive cerebellar ataxia with neuropathy. H. Shimazaki, R. Sugaya, J. Honda, A. Meguro, I. Nakano.

1303F   Modeling collybistin deletion neuropathology in induced pluripotent stem cells (iPSC)-derived neurons. A. Sertie, K. G. Oliveira, C. O. F. Machado, C. Rosenberg, F. Kok, M. R. Passos-Bueno.

1304W   Genetic basis of math genetic difficulty. M. R. S. Carvalho, M.de Miranda, G. Pena, A. Julio-Costa, P. Pinheiro-Chagas, L. Salvador, M. Andreata, V. G. Haase.

1305T   Whole transcriptome analysis of fetal and adult Ts1Cje brains provides new perspectives for prenatal and postnatal treatment of neurocognition in Down syndrome. F. Guedj, J. L. A. Pennings, L. C. Graham, E. L. Newman, K. A. Miczek, D. W. Bianchi.

1306F   Monoamine oxidase deficiency: The clinical relevance of personal genomics in a new developmental brain dysfunction disorder. D. Moreno-De-Luca, E. R. Riggs, D. H. Ledbetter, C. L. Martin, J. F. Cubells.

1307W   VRK1 mutations associated with complex motor and sensory axonal neuropathy plus microcephaly. W. Wiszniewski, C. Gonzaga-Jauregui, T. Lotze, L. Jamal, S. Penney, I. Campbell, D. Pehlivan, J. Hunter, S. Woodbury, G. Raymond, A. Adesina, S. Jhangiani, J. Reid, D. Muzny, E. Boerwinkle, R. Gibbs, J. Lupski, Centers for Mendelian Genomics.

1308T   Evidence for phenotypically-linked bounds on the role of de novo loss of function variation in autism spectrum disorders. E. B. Robinson, K. E. Samocha, J. Kosmicki, L. M. McGrath, B. M. Neale, M. J. Daly.

1309F   Phenotypic categorization of putative pathogenic copy number variants in a population of autism spectrum disorder patients. I. C. Conceiçăo, B. Oliveira, C. Correia, M. Rama, J. Coelho, C. Café, J. Almeida, S. Mouga, F. Duque, G. Oliveira, A. M. Vicente.

1310W   Fragile X, intermediate, and premutation alleles in the Autism Genetic Resource Exchange. W. Brown, A. Glicksman, X. Ding, N. Ersalesi, C. Dobkin, S. Nolin.

1311T   Genome-wide association study identifies variants for major depression through age at onset stratification. R. A. Power, K. Tansey, H. Buttenschřn, H. Lee, S. Cohen-Woods, S. Ripke, N. R. Wray, Psychiatric GWAS Consortium - MDD Working Group, C. M. Lewis.

1312F   Divergent and convergent quantitative dysmorphic phenotypes among neuropsychiatric patients with rare de novo copy number variants. C. K. Deutsch, F. Momen-Heravi, R. Francis, A. T. Hunt, J. M. Stoler, L. B. Holmes, J. Sebat.

1313W   Late-onset Alzheimer disease neuropathology genomic screen identifies novel loci for neuritic plaque and other AD neuropathology features. K. L. Hamilton-Nelson, G. W. Beecham, A. C. Naj, L.-S. Wang, E. R. Martin, R. Mayeux, J. L. Haines, L. A. Farrer, G. D. Schellenberg, M. A. Pericak-Vance, T. J. Montine, Alzheimer's Disease Genetics Consortium.

1314T   Canine multiple system degeneration is associated with distinct SERAC1 mutations in two different dog breeds. J. Guo, R. Zeng, G. S. Johnson, T. Mhlanga-Mutangadura, E. Morava, T. Kozicz, J. F. Taylor, D. P. O'Brien, R. D. Schnabel.

1315F   Does gene function predict cognition and behaviour in X-linked intellectual disability? K. Baker, G. Scerif, D. E. Astle, P. C. Fletcher, F. L. Raymond.

1316W   Serotonin transporter methylation and response to cognitive behaviour therapy in child anxiety disorders. S. Roberts, K. J. Lester, C. C. Y. Wong, J. L. Hudson, C. Creswell, J. Mill, T. C. Eley.

1317T   Using transcriptomic data to understand the processes involved in antidepressant treatment response. K. Hodgson, K. E. Tansey, G. Coppola, G. Breen, R. Uher, P. McGuffin.

1318F   MicroRNA-137 is associated with epigenetic variation at the HCG9 gene in the amygdala. A. P. S. Ori, K. R. van Eijk, M. F. Stokman, E. Strengman, The Netherlands Brain Bank, M. P. M. Boks, S. de Jong, R. A. Ophoff.

1319W   The genetic architecture of white matter integrity: Insights from quantitative genetics and genome-wide associations. E. Sprooten, E. E. M. Knowles, D. R. McKay, M. A. Carless, M. A. A. de Almeida, A. Winkler, T. Dyer, J. E. Curran, H. Göring, R. Olvera, P. Kochunov, P. Fox, L. Almasy, R. Duggirala, J. Kent, J. Blangero, D. C. Glahn.

1320T   Association of KIBRA with episodic and working memory: A meta-analysis. A. Milnik, A. Heck, C. Vogler, H.-J. Heinze, D. J.-F. de Quervain, A. Papassotiropoulos.

1321F   A meta-analysis including 9,038 individuals confirms an interaction effect between depression and FTO genotype on BMI. M. Rivera, T. Corre, C. Wolf, D. Czamara, S. Kloiber, B. Muller, M. Preisig, G. Breen, I. Craig, A. Farmer, C. Lewis, P. McGuffin.

1322W   The genetic basis of solitude: lower heterozygosity in people with strict definition autism spectrum disorders and their parents. S. Huang, X. Lu, J. Liang, D. Yuan.

1323T   Shared genetic vulnerability for attention deficit hyperactivity disorder, substance use and gambling in Australian adolescents. P. A. Lind, D. A. Hay, T. J. Cicero, N. G. Martin, S. E. Medland.

1324F   Genome-wide association study for cognitive decline. L. B. Chibnik, L. Yu, T. Raj, J. Xu, N. Patsopoulos, B. T. Keenan, R. Sherva, S. E. Leurgans, D. Blacker, R. S. Wilson, E. M. Reiman, M. Huentelman, R. C. Green, L. A. Farrer, P. Crane, R. Mayeux, R. Lipton, G. D. Schellenberg, D. A. Evans, P. L. De Jager, D. A. Bennett, Alzheimer's Disease Genetics Consortium.

1325W   Combining RNA-sequencing and genotyping data to identify genes and pathways associated with major depression. S. Mostafavi, A. Battle, X. Zhu, J. Potash, M. Weissman, J. Shin, K. Beckman, C. Haudenschild, C. McCormick, R. Mei, M. Gameroff, H. Glindes, P. Adams, F. Goes, F. Mondimore, D. MacKinnon, L. Notes, B. Schweizer, D. Furman, S. Montgomery, A. Urban, D. Koller, D. Levinson.

1326T   The PD Brain Map Project: Mapping the transcriptional architecture of dopamine neurons in human brain. C. R. Scherzer, C. Vanderburg, T. G. Beach, C. H. Adler, J. J. Locascio, N. Pochet, A. Regev, B. Zheng, Z. Liao.

1327F   Adult onset painful sensory polyneuropathy caused by a dominant NAGLU mutation. M. Tetreault, M. J. Dicaire, P. Allard, K. Gehring, D. Leblanc, N. Leclerc, J. Mathieu, B. Brais.

1328W   Exome sequencing of extended families identify putative novel candidate genes for autism. A. Patowary, I. Stanaway, R. Nesbitt, W. Raskind, D. Nickerson, Z. Brkanac.

1329T   Identification of rare variants in childhood onset schizophrenia using exome sequencing. A. Ambalavanan, S. L. Girard, J. Gauthier, L. Xiong, A. D. Laporte, D. Spiegelman, E. Henrione, O. Diallo, S. Dobrzeniecka, P. A. Dion, R. Joober, J. L. Rapoport, G. A. Rouleau.

1330F   Family genomics reveals a network of calcium signaling genes underlying bipolar disorder. S. A. Ament, G. Glusman, H. C. Cox, D. E. Mauldin, S. Z. Montsaroff, N. D. Price, S. Szelinger, D. W. Craig, H. J. Edenberg, L. Hood, F. J. McMahon, J. R. Kelsoe, J. C. Roach, Bipolar Genome Study.

1331W   Partial deletion of the RBFOX1 gene in a 16-year-old male patient with autism spectrum disorder, attention deficit hyperactivity disorder and intellectual disability. O. Bartsch, D. Galetzka, E. Weis, S. Schweiger, J. Winter.

1332T   Genetics and cellular neurobiology of severe mental illness. C. G. Bouwkamp, F. M. S. De Vrij, N. Gunhanlar, S. T. Munshi, M. P. H. Coesmans, M. Quadri, G. Breedveld, J. A. Maat-Kievit, B. Oostra, V. Bonifati, S. A. Kushner.

1333F   Mapping the schizophrenia brain: Genes harboring damaging de novo mutations in schizophrenia map to a highly interconnected network of transcriptional co-expression and protein interaction in fetal prefrontal cortex. S. Gulsuner, T. Walsh, A. C. Watts, M. K. Lee, A. M. Thornton, S. Casadei, C. Rippey, H. Shahin, M.-C. King, J. M. McClellan, Consortium on Genetics of Schizophrenia (COGS), PARTNERS Study Group,.

1334W   Targeted re-sequencing of HDC and SLITRK1 in Tourette syndrome using next-generation sequencing. A. Inai, H. Kuwabara, Y. Eriguchi, T. Shimada, M. Furukawa, T. Sasaki, M. Tochigi, C. Kakiuchi, K. Kasai, Y. Kano.

1335T   Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci involved in fatty acid oxidation. M. Z. Kos, J. Peralta, M. A. Carless, M. Almeida, R. C. Gur, M. F. Pogue-Geile, D. Roalf, V. Nimgaonkar, R. E. Gur, L. Almasy.

1336F   Runs-of-homozygosity are associated with intellectual disability and female gender in simplex autism. E. Morrow, E. Gamsiz, E. Viscidi, A. Frederick, M. Schmidt, E. Triche, S. Nagpal.

1337W   A novel autosomal dominant dystonia and spastic paraplegia caused by a mutation in ATP5G3, a gene that encodes for subunit c of mitochondrial ATP synthase. D. E. Neilson, T. Huang, X. Wang, N. D. Leslie, R. B. Hufnagel, D. L. Gilbert.

1338T   Whole exome sequencing of patients with Rett-like features negative for MECP2 mutations:. H. E. Olson, O. Khwaja, C. LaCoursiere, E. Martin, W. E. Kaufmann, A. Poduri.

1339F   Detecting novel mutations of Alzheimer’s disease gene using semiconductor sequencing. Y. Ryoichi, M. Ryosuke, M. Hiroyuki, I. Yuishin, K. Masahito, K. Takashi, M. Hirofumi, M. Noriyoshi, K. Hidemi, K. Hideshi.

1340W   Exome sequencing of Parkinson's disease in order to identify genetic variants with high disease risk. W. Satake, Y. Suzuki, Y. Ando, H. Tomiyama, M. Yamamoto, M. Murata, N. Hattori, S. Tsuji, S. Sugano, T. Toda.

1341T   Clinical exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: Implications for genetic counseling and clinical diagnosis. S. Tang, S. K. Gandomi, K. D. Farwell Gonzalez, L. Shahmirzadi, J. Mancuso, P. Pichurin, R. Temme, S. Dugan, W. Zeng.

1342F   Homozygosity mapping and exome sequencing in consanguineous Pakistani pedigrees with autism spectrum disorder and intellectual disability. L. Xiong, S. Li, C. S. Leblond, S. Laurent, Q. Jiang, S. Zhou, D. Spiegelman, A. Ambalavanan, M. Christian, C. Caron, B. Forgeot d'Arc, S. Rasheed, Z. A. Nanjiani, M. Q. Brohi, L. Mottron.

1343W   Mutations in the mitochondrial chaperone TRAP1 are associated with the triad of chronic fatigue, pain and gut dysmotility: Crazy, criminal, or just caught in the TRAP? R. G. Boles, L. R. Susswein, S. A. Wong, K. J. McKernan, A. S. Zare, T. R. Foss, H. A. Hornung, K. M. Sheldon.

1344T   Genetic causes of intellectual disability in 22q11.2 deletion syndrome patients. T. Guo, T. Wang, J. Chung, J. Cai, D. McDonald-McGinn, A. S. Bassett, E. Chow, M. Bowser, K. Devriendt, A. Swillen, J. Breckpot, A. Marie Higgins, N. Philip, C. Bearden, K. Coleman, D. Heine-Suner, J. Rosell, E. Zackai, M. Schneider, S. Dahoun, S. Eliez, M. Armando, S. Vicari, M. Cristina Digilio, A. Weizman, D. Gothelf, R. Shprintzen, W. Kates, B. Emanuel, B. Morrow, International Chromosome 22q11.2 Consortium.

1345F   Novel dominant associations with PANS, autism, anxiety, pain, fatigue and GI dysmotility identified by NextGen sequencing the 1,100 MitoCarta genes in 270 probands. L. R. Susswein, K. M. Sheldon, T. Foss, A. Zare, K. J. McKernan, S. A. Wong, R. R. Trifiletti, R. G. Boles.

1346W   Major depression susceptibility loci identified using whole genome sequencing in extended pedigrees. E. E. M. Knowles, M. A. A. De Almeida, J. W. Kent, T. D. Dyer, J. E. Curran, H. H. Goring, M. A. Carless, R. L. Overa, D. R. McKay, E. Sprooten, J. Blangero, D. C. Glahn.

1347T   Deletions between 1 and 30 kb associate with risk for autism. J. D. Buxbaum, C. S. Poultney, A. P. Goldberg, M. Fromer, E. Drapeau, H. Harony-Nicolas, Y. Kajiwara, S. de Rubeis, S. Durand.

1348F   Contribution of LIN7A to developmental disorder. A. Matsumoto, M. Mizuno, N. Hamada, E. Jimbo, K. Kojima, M. Y. Momoi, K. Nagata, T. Yamagata.

1349W   Cross-disorder copy number variation analysis of Tourette syndrome and obsessive-compulsive disorder. J. M. Scharf, on behalf of TSAICG and IOCDFGC.

1350T   Large deletion of the PRRT2 gene frequently involves paroxysmal dyskinesia in Korea. S. J. Lee, M. W. Seong, H. J. Kim, G. Ehm, H. J. Yang, Y. E. Kim, K. T. Choi, S. S. Park, B. S. Jeon.

1351F   Epileptic encephalopathies of unknown etiology: De novo mutations and pathway analysis. S. Esmaeeli Nieh, G. Da Gente, H. C. Mefford, I. Scheffer, A. Poduri, D. Dlugos, E. H. Sherr, EPGP and Epi4K Investigators.

1352W   Assessing the potential clinical application of SCN1A genetic testing in Dravet and Doose epilepsy syndromes. M. C. Gonsales, C. V. Soler, R. R. Kieling, A. Palmini, D. H. Nakanishi, M. L. Manreza, P. Preto, M. A. Montenegro, M. M. Guerreiro, I. Lopes-Cendes.

1353T   Trio sequencing in malformations of cortical development. E. L. Heinzen, A. Poduri, Epi4K and EPGP Investigators.

1354F   Linkage analysis and exome sequencing in a large highly inbred consanguineous kindred to identify idiopathic generalized epilepsy genes. F. Tuncer, S. A. Ugur Iseri, M. Calik, A. O. Caglayan, A. Iscan, M. Gunel, U. Ozbek.

1355W   Mutation screening in the mitochondrial D-loop region in FMR1 premutation carriers. F. Silva, L. Rodriguez-Revenga, I. Madrigal, M. I. Alvarez-Mora, D. M. Elurbe, M. Milŕ.

1356T   "Game of Exomes" and autism spectrum disorder. M. Cuccaro, N. Dueker, E. R. Martin, A. J. Griswold, H. N. Cukier, S. Slifer, J. Jaworski, I. Konidari, P. L. Whitehead, M. Schmidt, J. R. Gilbert, J. L. Haines, M. A. Pericak-Vance.

1357F   Role of MAPT variation in neurodegenerative disorders. C. Labbe, A. Ortolaza, S. Rayaprolu, R. Uitti, D. Dickson, Z. Wszolek, O. Ross.

1358W   Whole genome sequencing in adults with 22q11.2 deletion syndrome: A pilot study. N. J. Butcher, C. R. Marshall, A. S. Bassett.

1359T   Complete genome sequence-based family analysis of monozygotic twins discordant for schizophrenia. C. Castellani, R. O'Reilly, S. Singh.

1360F   Whole genome DNA sequencing identifies variants showing allelic association with bipolar affective disorder. A. Fiorentino, N. O'Brien, A. McQuillin, A. Narula, A. Anjorin, R. Kandaswamy, R. Blizard, D. Curtis, H. Gurling.

1361W   Whole genome sequencing for bipolar disorder. A. E. Locke, M. Flickinger, T. DeAngelis, D. Absher, S. Vrieze, S. Ramdas, B. Li, J. Li, M. Burmeister, L. Legrand, M. Rivera, J. L. Sobell, W. G. Iacono, M. McGue, C. N. Pato, M. T. Pato, J. A. Knowles, G. Breen, J. B. Vincent, M. McInnis, G. Abecasis, H. M. Kang, L. J. Scott, S. Levy, R. M. Myers, M. Boehnke, on behalf of Bipolar Research in Deep Genome and Epigenome Sequencing (BRIDGES) Study.

1362T   Identifying functional variation in schizophrenia GWAS loci by pooled sequencing. E. K. Loken, S. Bacanu, D. Walsh, F. A. O'Neill, K. S. Kendler, B. P. Riley.

1363F   Exome sequencing identifies novel rare variants in human T-cell leukemia virus type-1-associated myelopathy/tropical spastic paraparesis. S. Nozuma, E. Matsuura, Y. Higuchi, J. Yuan, Y. Sakiyama, A. Hashiguchi, Y. Okamoto, A. Yoshimura, T. Matsuzaki, J. Mitsui, H. Ishiura, Y. Takahashi, J. Yoshimura, K. Doi, R. Kubota, S. Morishita, S. Tsuji, S. Izumo, H. Takashima.

1364W   Discovery and analysis of rare variants for bipolar disorder by exome sequencing in multiplex families. S. Ramdas, A. B. Ozel, J. Li.

1365T   Gene-based analysis on major depressive disorder using 12,000 case control samples sequenced at one fold coverage. Y. Li, J. Wang, S. Shi, Y. Chen, J. Marchini, K. Kendler, R. Mott, J. Flint, on behalf of CONVERGE Consortium.

1366F   Exome sequencing identifies de novo missense mutation in KCND2 in identical twins with autism and seizures that results in slow potassium channel inactivation. S. Nelson, H. Lee, M. Lin, H. Kornblum, D. Papazian.

1367W   Amish revisited: A next-generation sequencing study of bipolar disorder among the Plain people. L. Hou, N. Akula, L. Kassem, D. Chen, Y. Yao, J. L. Haines, M. Pericak-Vance, T. G. Schulze, F. J. McMahon.

1368T   Genetic etiologies of speech sound disorders. B. Peter, E. M. Wijsman, M. Matsushita, K. Oda, K. Chapman, U. W. Center Mendelian Genomics, I. Stanaway, W. H. Raskind.

1369F   Comprehensive annotation and analysis of noncoding autism spectrum disorder risk loci by targeted massively parallel sequencing. A. J. Griswold, D. Van Booven, J. M. Jaworski, S. Slifer, M. A. Schmidt, W. Hulme, I. Konidari, P. L. Whitehead, J. A. Rantus, S. M. Williams, R. Menon, M. L. Cucccaro, E. R. Martin, J. L. Haines, J. R. Gilbert, J. P. Hussman, M. A. Pericak-Vance.

1370W   Genome-wide frequencies of phase-specific functional variant combinations in a large set of families with bipolar disorder. D. X. Quarless, K. Bhutani, V. Bansal, A. Torkamani, N. Rens, S. A. Ament, H. Li, M. E. Brunkow, R. Gelinas, J. Nurnberger, H. Edenberg, E. Gershon, G. Glusman, J. C. Roach, J. R. Kelsoe, N. J. Schork, Bipolar Genome Study Consortium.

1371T   Investigation of the role of microRNAs in autism by deep RNA-sequencing. J. A. Lamb, F. Marriage, E. Tsitsiou, P. Wang, L. Zeef.

1372F   Somatic instability in sporadic amyotrophic lateral sclerosis? C. S. Leblond, J. B. Rivičre, M. J. Strong, K. Volkening, P. Hince, D. Spiegelman, A. Dionne-Laporte, J. Robertson, L. Zinman, P. A. Dion, G. A. Rouleau.

1373W   Towards the identification of new genes implicated in recessive early-onset forms of Parkinson’s disease. S. Lesage, A. S. Cocquel, A. L. Leutenegger, A. Honoré, C. Condroyer, A. Dürr, A. Brice.

1374T   Rare variant discovery of progressive supranuclear palsy using whole exome sequencing. C.-F. Lin, E. T. Geller, O. Valladares, Y.-H. Hwang, L. Stutzbach, L. Cantwell, L.-S. Wang, G. D. Schellenberg.

1375F   A recurrent microdeletion at 20p13 unmasks a recessive mutation in PLCB1 in a patient with severe infantile epileptic encephalopathy. I. M. Wentzensen, A. Mctague, E. Meyer, C. Applegate, A. Ngoh, E. Kossoff, D. Batista, T. Wang.

1376W   A follow-up of whole exome sequencing in multiplex families. . A. H. Beecham, J. L. McCauley, A. Hadjixenofontos, P. L. Whitehead, W. F. Hulme, I. Konidari, S. L. Hauser, J. R. Oksenberg, J. M. Vance, J. L. Haines, M. A. Pericak-Vance.

1377T   Exome sequencing for schizophrenia and alcohol dependence in an Irish cohort using low-cost library prep and target capture. D. G. Brohawn, T. Hendon, T. Bigdeli, E. Loken, D. Walsh, F. A. O' Neill, S. Bacanu, K. Kendler, B. T. Webb, B. Riley.

1378F   Reduced mRNA expression and aberrant intron DNA methylation of EGR2 in female schizophrenia patients. M. Cheng, Y. Chuang, S. Hsu, C. Chen.

1379W   Association of rare variants with anorexia nervosa by whole exome sequencing. J. Connolly, D. Li, H. Hakonarson.

1380T   Detection of de novo mutations in schizophrenia patients and their unaffected siblings. S. de Jong, N. Tran, E. Strengman, E.-J. ten Dam, R. S. Kahn, R. A. Ophoff.

1381F   Genome-wide profiling of DNA-protein interactions and multiple histone methylations in the cultured olfactory cells from schizophrenia. Z. Deng, M. Deng, O. V. Evgrafov, J. A. Knowles.

1382W   Examining de novo mutation rates and patterns from whole exome sequencing of sporadic cases of schizophrenia from Taiwan. D. Howrigan, B. Neale, J. Moran, K. Chambert, S. Rose, N. Laird, H.-G. Hwu, W.-J. Chen, C.-M. Liu, C.-C. Liu, J. Nemesh, E. Bevilacqua, A. Hansen, S. V. Faraone, S. Glatt, M. Tsuang, S. McCarroll.

1383T   Deep re-sequencing of TREM2 identifies novel rare variants associated with late-onset Alzheimer’s disease. S. Jin, T. Skorupa, B. Cooper, D. Carrell, J. Norton, B. Benitez, C. Cruchaga, A. Goate.

1384F   Mutations in the CASR gene in idiopathic generalized epilepsy. M. Kaur, P. Satishchandra, K. Radhakrishnan, A. Kapoor, A. Anand.

1385W   Trio-based pathway analysis of bipolar disorder. N. Matoba, M. Kataoka, K. Fujii, Y. Suzuki, S. Sugano, T. Kato.

1386T   The not-so-silent effect of silence mutations in autism spectrum disorders. O. A. Moreno-Ramos, M. C. Lattig, Liga Colombiana de Autismo (LICA).

1387F   The rare TREM2 variant R47H has a modest effect on Alzheimer’s disease risk. A. R. Parrado, K. Mullin, W. K. Yip, B. Hooli, T. Liu, C. Lange, L. Bertram, R. E. Tanzi.

1388W   Sequencing of coding region of the CNTNAP2 in individuals with autism spectrum disorders. K. P. Pena Gonzalez, L. M. Munera Salazar, O. A. Moreno Ramos, M. C. Lattig, Liga Colombiana de Autismo (LICA).

1389T   Exploring the genetic landscape of Parkinson’s disease: An exome study in Sardinia, a Mediterranean genetic isolate. M. Quadri, X. Yang, G. Cossu, S. Olgiati, V. Saddi, G. Breedveld, L. Ouyang, J. Hu, N. Xu, J. Graafland, V. Ricchi, D. Murgia, L. Correia Guedes, S. Tesei, M. J. Marti, P. Tarantino, S. Asselta, F. Valldeoriola, M. Gagliardi, G. Pezzoli, M. Ezquerra, A. Quattrone, J. J. Ferreira, G. Annesi, S. Goldwurm, E. Tolosa, B. Oostra, M. Melis, J. Wang, V. Bonifati.

1390F   Genetic epidemiological study on migraine and episodic ataxia in the Japanese population. Y. Takahashi, H. Ishiura, J. Goto, S. Tsuji.

1391W   Whole transcriptome analysis by next-generation sequencing in autism spectrum disorders. C. Zusi, P. Prandini, G. Malerba, L. Xumerle, R. Galavotti, A. Pasquali, C. Patuzzo, V. Mijatovic, R. Ciccone, M. Fichera, M. C. Bonaglia, E. Trabetti, P. F. Pignatti.

1392T   Investigating the association between OPA1-AS1 gene variants and autosomal dominant optic atrophy. I. Nakata, K. Linkroum, W. Abdrabou, M. Janessian, E. Gaier, D. M. Cestari, S. Lessell, J. Rizzo, J. L. Wiggs.

1393F   Exome sequencing on samples with bipolar disorder: A preliminary survey. T. Zhang, F. J. McMahon, D. T. Chen, J. C. Wang, J. P. Rice.

1394W   Exploration of brain-specific somatic mutations with massively parallel sequencing data derived from human postmortem brain. M. Nishioka, M. Bundo, J. Ueda, S. Murayama, K. Kasai, T. Kato, K. Iwamoto.

1395T   Identification of new genes and pathways for rare infantile forms of spinal muscular atrophy and arthrogryposis. L. Baumbach-Reardon, J. M. Hunter, M. E. Ahearn, J. Kiefer, C. Balak, G. Lambert, J. Getz, D. Duggan, B. Wirth, W. Tembe, C. Legendre, W. Liang, A. Kurdoglu, J. Corneveaux, M. Huentelman, D. Craig, J. Carpten, J. Hall.

1396F   Genetics of spinocerebellar ataxias in Portuguese families: Screening for SCA15, SCA28 and SCA36. J. R. Loureiro, A. I. Seixas, J. L. Loureiro, A. Carracedo, M. J. Sobrido, P. Coutinho, J. Sequeiros, I. Silveira.

1397W   Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. K. N. McFarland, J. Liu, I. Landrian, S. Raskin, M. Moscovich, E. M. Gatto, H. A. G. Teive, A. Ochoa, A. Rasmussen, T. Ashizawa.

1398T   Androgen receptor gene polymorphism is associated with impulsivity in women with alcoholism. A. M. Manzardo, D. Mettman, E. C. Penick, A. B. Poje, M. G. Butler.

1399F   Analysis of KDM5C defects associated with ARX epilepsy-related mutants and evaluation of rescue strategies. L. Poeta, A. Padula, F. Fusco, C. Shoubridge, G. Manganelli, S. Filosa, P. Collombat, G. Friocourt, M. Passafaro, K. Helin, L. Altucci, S. Gustincich, J. Gecz, M. V. Ursini, M. G. Miano.

1400W   Validation of a robust PCR-only assay for quantifying FMR1 CGG repeats on clinical samples. J. K. Moore, M. J. Basehore, G. Filippov, K. Adler, M. J. Friez, M. Schermer.

1401T   AGG interruptions affect the risk of having a child with fragile X syndrome: A follow-up study. C. Yrigollen, B. Durbin-Johnson, R. Hagerman, L. Zhou, E. Berry-Kravis, F. Tassone.

1402F   Applying NGS to familial ALS cohorts to identify novel genes. K. L. Williams, J. A. Fifita, G. A. Nicholson, I. P. Blair.

1403W   Founder mutation for Huntington disease in Caucasus Jews. H. N. Baris, O. Melamed, C. Bram, N. Magal, E. Pras, H. Reznik-Wolf, Z. U. Borochowitz, B. Davidov, R. Mor-Cohen, D. M. Behar.

1404T   TDP43 interact with Pur α and rescue the neurodegeneration caused by expanded hexanucleotide GGGGCC repeat. J. Li, M. Poidevin, W. Thomas, P. Jin.

1405F   A predictive model for the MAOA promoter VNTR and its application in public GWAS datasets. T. Wang, A. Lu, V. Rao, S. deJong, R. M. Cantor, R. A. Ophoff.

1406W   MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington’s disease mice. S. Tome, K. Manley, J. Simard, G. W. Clark, M. S. Slean, M. Swami, P. F. Shelbourne, E. R. M. Tillier, D. G. Monckton, A. Messer, C. E. Pearson.

1407T   Mlh1 and Mlh3 modify CAG instability in Huntington’s disease mice: Genome-wide and candidate approaches. R. Mouro Pinto, E. Dragileva, A. Kirby, A. Lloret, E. Lopez, J. St. Claire, G. B. Panigrahi, C. Hou, K. Holloway, T. Gillis, J. R. Guide, P. E. Cohen, G.-M. Li, C. E. Pearson, M. J. Daly, V. C. Wheeler.

1408F   Small molecule ligand distorts RNA G-quadruplex structure of the disease-associated r(GGGGCC)n repeat of the C9orf72 gene and blocks interaction of RNA-binding proteins. C. E. Pearson, B. Zamiri, K. Reddy, R. Macgregor.

1409W   Haplotype analyses in 15 Brazilian and Peruvian families with spinocerebellar ataxia type 10. M. L. Saraiva-Pereira, T. C. Gheno, G. V. Furtado, J. A. M. Saute, K. C. Donis, A. M. V. Fontanari, V. E. Emmel, J. L. Pedroso, O. Barsottini, C. Godeiro, H. van der Linden, E. T. Pereira, W. Marques-Junior, R. M. Castilhos, I. Alonso, J. Sequeiros, M. Cornejo-Olivas, P. Mazzetti, V. L. Torman, L. B. Jardim, Rede Neurogenetica.

1410T   Detailed audiological evaluation of a patient with xeroderma pigmentosum with neural degeneration. D. Mercer, F. Tsien, A. Hurley.

1411F   Characterizing the aging human brain transcriptome. N. Pochet, D. Borges-Rivera, B. Haas, S. Rajagopal, J. Xu, C. McCabe, O. Gevaert, G. Srivastava, A. Regev, J. Schneider, D. Bennett, P. De Jager.

1412W   Mucolipidosis type IV: Progressive gliosis, synaptic dysfunction and cognitive deficits in Mcoln1 knockout mouse. Y. Grishchuk, S. Sri, W. Ma, N. Rudinskiy, M. Cottle, K. Stember, E. Sapp, A. Muzikansky, M. Difiglia, R. Betensky, B. Hyman, R. Kelleher, J. Cooper, S. Slaugenhaupt.

1413T   Identifying novel candidate genes for neurological diseases. K. Summers.

1414F   The genetic architecture of schizophrenia: How do CNVs and polygenic scores contribute to disease risk? S. E. Bergen, J. W. Smoller, J. Sebat, S. Purcell, B. Neale, K. S. Kendler, ISC, Swedish Schizophrenia Consortium, Psychiatric Genomics Consortium CNV and Schizophrenia Groups.

1415W   Copy number variants implicated in autism spectrum disorder among individuals of Hispanic ethnicity. N. Dueker, A. J. Griswold, H. N. Cukier, J. Jaworski, Y. N. Park, S. Slifer, I. Konidari, P. L. Whitehead, M. Schmidt, J. R. Gilbert, J. L. Haines, M. L. Cuccaro, E. R. Martin, M. A. Pericak-Vance.

1416T   High resolution copy number variation analysis in monozygotic twins discordant for schizophrenia and delusional disorder. F. Nishimura, A. Yoshikawa, T. Kato, T. Sasaki, K. Kasai, C. Kakiuchi.

1417F   Characterization of age-related expression of the interleukin-1beta gene in immature zebrafish brain after pentylenetetrazole- evoked seizures. P. Barbalho, D. Nakata, C. Maurer-Morelli.

1418W   A corrective gene silencing by RNA interference to control over-expressed SNCA. M. Takahashi, M. Suzuki, N. Fujikake, M. Murata, K. Wada, Y. Nagai, H. Hohjoh.

1419T   Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. L. Davis, on behalf of Tourette Syndrome Association International Consortium for Genetics (TSAICG).

1420F   Association of DLG4 haplotype with increased risk of schizophrenia. S. Balan, K. Yamada, E. Hattori, Y. Iwayama, T. Toyota, T. Ohnishi, M. Maekawa, M. Toyoshima, Y. Iwata, K. Suzuki, M. Kikuchi, T. Yoshikawa.

1421W   MGluR gene network alterations confer risk for autism spectrum disorder in 22q11.2 deletion syndrome. T. L. Wenger, C. Kao, D. M. McDonald-McGinn, A. Bailey, R. T. Schultz, B. S. Emanuel, B. E. Morrow, E. H. Zackai, H. Hakonarson.

1422T   Co-expression networks implicate human mid-fetal deep cortical projection neurons in the pathogenesis of autism. A. J. Willsey, S. J. Sanders, M. Li, S. Dong, A. T. Tebbenkamp, R. A. Muhle, S. K. Reilly, L. Lin, S. Fertuzinhos, J. A. Miller, M. T. Murtha, C. Bichsel, W. Niu, J. Cotney, A. G. Ercan-Sencicek, J. Gockley, W. Han, X. He, L. Klei, J. Lei, L. Liu, C. Lu, X. Xu, E. S. Lein, L. Wei, J. P. Noonan, K. Roeder, B. Devlin, N. Sestan, M. W. State.

1423F   Genome-wide methylome and transcriptome analyses reveal novel epigenetic regulation patterns in schizophrenia and bipolar disorder. C. Xu, Y. Xiao, Y. Li, C. Camarillo, Y. Ping, J. Xu, T. Arana, H. Zhao, P. Thompson, C. Xu, Z. Zhao, H. Chen, C. Mao, Y. Zhang, B. Su, M. Escamilla, A. Ontiveros, H. Nicolini, A. Jerez, X. Li.

1424W   Neuronal cellular models of 22q11.2 DS exhibit disruptions to the miRNA regulatory pathway and may increase the rate of schizophrenia in individuals with 22q11.2 DS. W. Manley, M. R. Ababon, M. P. Moreau, P. G. Matteson, J. H. Millonig, L. M. Brzustowicz.

1425T   A case of monozygotic female triplets diagnosed with autism: Comprehensive genomic analyses. Z. Talebizadeh, S. Soden, A. Gadashova.

1426F   Does presymptomatic testing changes age at onset (PAON): A prospective study in Huntington disease. A. Durr, S. Tezenas du Montcel, M. F. Jutras, C. Jauffret, S. Benaich, A. Herson, J. Feingold, M. Gargiulo.

1427W   Genome-wide expression changes in a higher state of consciousness. M. Ravnik-Glavac, S. Hrasovec, J. Bon, J. Dreo, D. Glavac.

1428T   Differences in gene expression and DNA methylation in drug-naïve first-episode psychosis patients. V. K. Ota, C. S. Noto, A. Gadelha, M. L. Santoro, B. B. Ortiz, R. S. Stilhano, E. S. Gouvea, P. N. Silva, C. G. Olmos, L. M. N. Spindola, E. H. S. Andrade, M. I. Melaragno, M. A. C. Smith, S. W. Han, Q. Cordeiro, R. A. Bressan, S. I. Belangero.

1429F   Investigating the role of the histidine decarboxylase gene in Tourette syndrome etiology. I. Karagiannidis, H. Potamianou, G. Heiman, L. Deng, J. Xing, N. Sun, C. Nasello, P. Sandor, C. Barr, P. Paschou.

1430W   Identification of target genes for the language-related FOXP2 and its isoform. T. Ohta, N. Niikawa, T. Oikawa.


Bioinformatics and Genomic Technology

 

1431W   Reference-free quality assessment and complexity estimation of next-generation sequencing data. S. Y. Anvar, L. Khachatryan, M. Vermaat, M. van Galen, I. Pulyakhina, Y. Ariyurek, K. Kraaijeveld, P. A. C. 't Hoen, J. T. den Dunnen, P. de Knijff, J. F. J. Laros.

1432T   RNA-seq reveals increased expression of other osteogenesis imperfecta (OI)-causing genes in diaphyseal bone from the Col1a2p.G610C mouse model of OI. U. M. Ayturk, C. M. Jacobsen, A. G. Robling, M. L. Warman.

1433F   SoftSearch: A tool to identify genomic structural variations from paired-end Illumina reads. S. Baheti, S. N. Hart, V. Sarangi, R. Moore, J. D. Bhavsar, J. P. Kocher.

1434W   Thousand genomes and HLA typing by NGS: Hidden treasures in public short read data. A. Berces, E. Major, K. Rigo, S. Juhos, T. Hague, P. Gourraud.

1435T   A consolidated genotype quality control reporting pipeline. J. Boston, Y. Bradford, J. Haines, W. Bush.

1436F   Variome-based identification of Crohn's disease predisposition. Y. Bromberg.

1437W   Clinical exome quality assurance through comprehensive coverage analysis improves the utility of exome sequencing. C. J. Buhay, Q. Wang, M. Wang, Y. Han, H. Dinh, H. Doddapaneni, Y. Yang, Y. Ding, M. Bainbridge, E. Boerwinkle, J. Reid, D. Muzny, R. Gibbs.

1438T   Tumorgraft DNA-seq and RNA-seq analysis. J. Calley, R. Higgs, P. Ebert, T. Barber.

1439F   Pathogenicity prediction of genomic variants using the gene-level frequency of variation in asymptomatic individuals. C. A. Cassa, D. M. Jordan, M. S. Lebo, S. R. Sunyaev.

1440W   Estimation of isoform-specific and allele-specific expression from RNA-seq data of genetically diverse population. K. Choi, N. Raghupathy, S. C. Munger, D. M. Gatti, G. A. Churchill.

1441T   Web-based tools to support the clinical genetics lab. D. M. Church, L. Kalman, V. Ananiev, N. Bouk, C. Chen, A. Doubintchik, M. Halavi, M. Landrum, P. Meric, L. Phan, D. Shao, D. Slotta, J. Trow, M. Ward, D. R. Maglott.

1442F   Project Mercury: Provenance and repeatability through encapsulation of experiments and experiment software. N. A. Clarke, M. Pollard, I. Colgiu, J. Randall.

1443W   Refining quality control for detection of rare structural variants with SNP arrays: Presenting the 'plumbCNV' R package with an application to type I diabetes. N. J. Cooper, J. A. Todd.

1444T   The transition to clinical NGS: How well do you know your sequencing pipeline? D. Corsmeier, B. Kelly, P. White.

1445F   Overcoming genetic heterogeneity in rare Mendelian disease gene discovery: An improved network analysis approach. N. Dand, F. Sprengel, V. Ahlers, M. A. Simpson, R. Schulz, R. J. Oakey, T. Schlitt.

1446W   SG-ADVISER tools: De-identification, identification and visual analytics of SG-ADVISER data. G. Erikson, P. Pham, W. Shipman, A. Torkamani.

1447T   Novel set of bioinformatics tools for performing distributed downstream data analysis in very large GWAS and NGS projects. L. Eronen, T. Kanninen, P. Sevon.

1448F   A Bayesian hierarchical model to detect differentially methylated loci from single nucleotide resolution sequencing data. H. Feng, K. N. Conneely, H. Wu.

1449W   VAAST+ VSQR: Making effective use of indels in disease-gene searches. S. Flygare, B. Kennedy, C. Huff, M. Reese, L. B. Jorde, M. Yandell.

1450T   Sherlock: Comprehensive approach to discovering gene-disease associations in GWAS using eQTL. C. Fuller, X. He, H. Li.

1451F   Screening genome variants for disruption of regulatory activity with ZoomReG: Capture, sequencing and computational identification of regulatory variants. T. Gaasterland, L. E. Edsall, A. N. Dubinsky, R. Chappel, P. Ordoukhanian, S. R. Head, The NEIGHBOR Consortium.

1452W   W4CSEQ — A web server to process enzyme-based and sonication-based 4C-seq data. F. Gao, W. Lu, K. Wang.

1453T   Multi-genome analysis improves individual genome annotation and powers disease elucidation. G. Glusman, A. F. A. Smit, J. C. Roach, L. Rowen, D. E. Mauldin, R. Hubley, H. Li, H. C. Cox, A. B. Stittrich, S. Ament, J. Caballero, E. Bone, M. Brunkow, R. Gelinas, L. Hood.

1454F   PhaseLift: A novel procedure to save time in imputing study genotypes. M. M. Gorski, T. W. Winkler, K. Stark, M. Müller-Nurasyid, J. S. Ried, B. H. Weber, I. M. Heid.

1455W   CIDRSeqSuite 4.0: A toolbox for next-generation sequencing workflow development. S. M. L. Griffith, D. Leary, J. D. Newcomer, K. Hetrick, M. Barnhart, K. Roberts, B. Marosy, B. Craig, D. Mohr, M. Zilka, A. Robinson, J. Goldstein, L. Watkins, K. Doheny.

1456T   Aneuploidy and normal cell contamination aware approach to detect copy number variations in cancer using next-generation sequencing data. R. Gupta, S. Katragadda, D. Vyavahare, K. Sandhu, V. Veeramachaneni, R. Hariharan.

1457F   Assigning KIR types from NGS short read data. T. Hague, E. Major, A. Berces, K. Rigo, S. Juhos.

1458W   Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects. V. Heinrich, T. Kamphans, J. Stange, D. Parkhomchuk, J. Hecht, T. Dickhaus, P. N. Robinson, P. M. Krawitz.

1459T   Highlander: variant filtering made easier. R. Helaers, M. Vikkula.

1460F   Comparison of Unified Genotyper and SAMTools as variant callers across 84 exomes. K. Hetrick II, H. Ling, E. Pugh, S. Griffith, B. Craig, B. Marosy, K. Doheny.

1461W   postMUT: A statistical tool for combining predictions of missense mutation functionality using capture-recapture methods. S. Hicks, S. E. Plon, M. Kimmel.

1462T   Improved access to data sets via metadata-driven searches of experimental conditions at the new ENCODE portal. E. L. Hong, B. C. Hitz, E. T. Chan, D. T. Erickson, N. R. Podduturi, G. Roe, K. Rosenbloom, L. D. Rowe, C. A. Sloan, J. S. Strattan, G. Barber, G. A. Binkley, J. Garcia, D. Karolchik, .K. Learned, B. Lee, S. Miyasato, G. Moro, M. Simison, E. Weiler, W. J. Kent, J. M. Cherry.

1463F   Network analysis on established schizophrenia loci reveals significant genetic overlap with autoimmune and cardiometabolic disease. L. M. Huckins, E. Zeggini.

1464W   SNP discovery in family sequencing datasets using Bayesian networks. A. Indap, G. Marth.

1465T   Mapping diagnostic test requisition data to the human phenotype ontology. R. James, C. Shaw.

1466F   Multiple testing correction method for linear mixed model. J. W. Joo, E. Kostem, E. Kang, B. Han, E. Eskin.

1467W   Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees. T. Kamphans, P. Sabri, A. Knaus, V. Heinrich, P. Krawitz, P. Robinson.

1468T   Big data management in the era of genomic medicine. J. Kaufman, S. Fuchs, D. Healey, A. Hopkins, L. Louie, D. Maltbie, C. Martin, M. Penley, M. Wong.

1469F   Churchill: A cloud-enabled, ultra-fast computational approach for the discovery of human genetic variation. B. Kelly, J. Fitch, D. Corsmeier, D. Newsom, P. White.

1470W   Accessing more human genetic variation with short sequencing reads. C. Kennedy, N. Chennagiri, B. Breton, M. Umbarger, P. Saunders, V. Greger, C. Micale, G. Porreca.

1471T   Genomics in clinical research on the DNASTAR Cloud. M. Keyser, J. Carville, T. Schwei, T. Durfee, A. Pollack-Berti, D. Nash, J. Stieren, S. Baldwin, R. Nelson, K. Dullea, J. Schroeder, P. Pinkas, G. Plunkett III, F. Blattner.

1472F   A general framework for estimating the relative pathogenicity of human genetic variants. M. Kircher, D. M. Witten, G. M. Cooper, J. Shendure.

1473W   Gene-set test for rare variants. J. Lee, B. Min, S. Lee, J. Ka, T. Park, T2D-Consortium.

1474T   Monitoring, analyzing, and exploring Ion Torrent™ NGS data with Torrent Suite™ software. D. León.

1475F   FERRET: A user friendly tool to quickly extract data from the 1000 Genomes Project. S. Limou, G. Nelson, P. An, C. Winkler.

1476W   dbNSFP v2.0: A database of human non-synonymous SNVs and their functional predictions and annotations. X. Liu, X. Jian, E. Boerwinkle.

1477T   NCBI’s Conserved Domain Database as a tool for the interpretation of human sequence variation. F. Lu, C. J. Lanczycki, Z. Wang, G. H. Marchler, M. Gwadz, S. H. Bryant, A. Marchler-Bauer.

1478F   H3M2: A novel algorithm for the detection of runs of homozygosity from second generation sequencing data. A. Magi, L. Tattini, P. Flavia, M. Benelli, M. Seri, G. F. Gensini, G. Romeo, T. Pippucci.

1479W   PRIOR: A bioinformatics tool for prioritization of candidate genes. V. Makarov, I. Ionita-Laza.

1480T   Shortcut to analysis of genomic data. D. Maltbie, S. Fuchs, D. Healey, A. Hopkins, J. Kaufman, L. Louie, C. Martin, M. Penley, M. Wong.

1481F   High throughput exome coverage and capture of clinically relevant cardiac genes. D. Manase, L. D'Alessandro, A. K. Manickaraj, S. Mital.

1482W   A Cloud computing-based open science platform for analysis, presentation, and collaboration in bioinformatics. G. Manglik, J. Yeager.

1483T   Liftover of short reads from next-generation sequences aligned to non-canonical references as a step towards a diploid alignment. T. C. Markello, T. R. Gall, A. J. Brandt, P. J. Pemberton, D. R. Simeonov, E. D. Flynn, W. P. Bone, A. E. Links, D. R. Adams, C. F. Boerkoel, W. A. Gahl.

1484F   Workflows for variation detection and filtering using NGS data from targeted resequencing, whole genome analysis, and RNA-seq. M. Matvienko, C. Boysen, A. Joecker, A. Joecker, S. Monsted, R. Forsberg.

1485W   Choice of transcripts and software has a large effect on variant annotation. D. McCarthy, A. Kanapin, M. Rivas, K. Gaulton, P. Humburg.

1486T   Joint GWAS analysis demonstrates increasing similarity among disparate diseases as genomic resolution rises from SNP to gene to pathway. M. McGeachie, G. Clemmer, J. Lasky-Su, H. H. Chang, B. Raby, S. Weiss.

1487F   Clinicall — A variant analysis tool for next-generation clinical sequence data. S. McGee, T. Kolar, M. O. Dorschner, J. D. Smith, D. A. Nickerson.

1488W   Streaming algorithms for de Bruijn graph statistics. P. Melsted.

1489T   Detection of hereditary mutations in the mitochondrial genome for clinical diagnosis. M. Middha, M. Klebig, E. Highsmith, E. Klee.

1490F   Accelerating whole genome sequencing bioinformatics for clinical application. S. Middha, S. Baheti, S. Hart, J. P. Kocher.

1491W   Locus Reference Genomic record: Reference resource for the reporting of clinically relevant sequence variants. J. Morales, J. A. L. MacArthur, R. Tully, L. Gil, A. Astashyn, E. Bruford, R. Dalgleish, E. Birney, P. Flicek, D. Maglott, F. Cunningham.

1492T   RNA-seq alignment to individualized genomes. S. C. Munger, N. Raghupathy, K. Choi, A. K. Simons, D. M. Gatti, D. A. Hinerfeld, K. L. Svenson, M. P. Keller, A. D. Attie, M. A. Hibbs, J. H. Graber, G. A. Churchill, E. J. Chesler.

1493F   Bioinformatics and data management of high throughput sequencing data from prospective cohort study at Tohoku Medical Megabank Project. M. Nagasaki, N. Nariai, K. Kojima, Y. Yamaguchi, I. Sato, J. Yasuda, O. Tanabe, N. Fuse, K. Kengo, R. Yamashita, J. Yamagishi, I. Danjo, M. Matsumoto, K. Igarashi, K. Nakayama, F. Katsuoka, S. Saito, I. Motoike, N. Ishida, M. Shirota, M. Yamamoto.

1494W   Transcript isoform abundance estimation method with gapped alignment of RNA-seq data by variational Bayesian inference. N. Nariai, O. Hirose, K. Kojima, M. Nagasaki.

1495T   Detecting epistasis in NRXN1 pathway with permutation-based variable importance measures used in Ramdom Forests. L. A. Neira Gonzalez, D. Tropea, D. Morris, G. Donohoe, M. Gill, F. O'Neill, K. Kendler, D. Walsh, B. Riley, A. Corvin, K. Nicodemus, WTCCC2.

1496F   CIDRVar: A next-generation sequencing database linking samples, variants, and annotations. J. D. Newcomer, S. M. L. Griffith, E. Pugh, D. R. Leary, J. L. Goldstein, L. Watkins, Jr., K. F. Doheny.

1497W   Improving the accuracy of novel sequence search in de novo human genomes with NSIT. B. Pupacdi, A. Javed, M. J. Zaki, M. Ruchirawat.

1498T   ScatterShot, a Java program for creating cluster plots from Affymetrix and Illumina genotype data. N. W. Rayner, N. Robertson, M. I. McCarthy.

1499F   Functional annotation of non-coding variants. G. R. S. Ritchie, P. Flicek, E. Zeggini, UK10K Consortium.

1500W   CLINGIE: A user-friendly clinical genome interpretation engine on the web. R. Robison, K. Wang.

1501T   The Cincinnati Analytical Suite for Sequencing Informatics is a tool to identify disease-causing variants from next-generation sequencing studies. A. M. Rupert, L. C. Kottyan, M. Kohram, M. Wagner, M. T. Weirauch, K. M. Kaufman, J. B. Harley.

1502F   Fast and high-resolution evaluation tool of Illumina high-throughput data considering spatial organization of the sequencing clusters. Y. Sato, K. Kojima, N. Nariai, Y. Yamaguchi-Kabata, M. Nagasaki.

1503W   Exome database. T. Schwarzmayr, T. Wieland, A. Schmittfull, E. Graf, T. Meitinger, T. M. Strom.

1504T   eXtasy: Variant prioritization by genomic data fusion. A. Sifrim, D. Popovic, L.-C. Tranchevent, A. Ardeshirdavani, R. Sakai, P. Konings, J. R. Vermeesch, J. Aerts, B. de Moor, Y. Moreau.

1505F   PHEVOR: Integration of VAAST with phenomizer and the gene ontology for accurate disease-gene identification using only a single affected exome. M. Singleton, L. Jorde, M. Yandell.

1506W   Multiagent-based SNP annotation for large-scale genetic diversity analyses: An application to the Brazilian EPIGEN Initiative. G. B. Soares-Souza, E. Tarazona-Santos, A. Pereira, M. L. Barreto, B. L. Horta, M. F. Lima-Costa, A. Horimoto, N. Esteban, F. Kehdy, W. C. S. Magalhaes, M. R. Rodrigues, Brazilian EPIGEN Consortium.

1507T   Comprehensive network and pathway analysis of RNA sequencing of triple negative breast cancers. J. P. Solzak, R. Atale, B. A. Hancock, J. N. Billaud, M. Radovich.

1508F   GrabBlur: A framework to facilitate the secure exchange of whole-exome and -genome sequencing data sets. B. Stade, D. Seelow, A. Franke.

1509W   Detection of informative variants in low coverage next-generation sequencing data as a quality control tool to ensure sample integrity. L. Timms, P. Ruzanov, J. K. Miller, N. Buchner, D. Pasternack, J. D. McPherson.

1510T   Consensus genotyper for exome sequencing: Improving the quality of exome variant genotypes. V. Trubetskoy, R. Madduri, A. Rodriguez, J. Scharf, P. Dave, I. Foster, L. Davis, N. Cox.

1511F   DRAW+SneakPeek: Analysis workflow and quality metric management for DNA-seq experiments. O. Valladares, C.-F. Lin, D. M. Childress, E. Klevak, E. T. Geller, Y.-C. Hwang, E. A. Tsai, G. D. Schellenberg, L.-S. Wang.

1512W   Performance of two imputation methods on large scale data: experiences in the eMERGE network. S. Verma, G. Armstrong, M. Ritchie, D. Crawford, Y. Bradford, M. Andrade, I. Kullo, G. Tromp, H. Kuivaniemi, L. . Armstrong, G. Hayes, B. Keating, D. Crosslin, G. Jarvik, B. Namjou, E. Bookman, R. Li, eMERGE Network.

1513T   FILTUS — A versatile and user-friendly program for filtration and statistical evaluation of variants in high-throughput sequencing projects. M. Vigeland.

1514F   DeMix: Deconvolution for mixed cancer transcriptomes using raw measured data. W. Wang, J. Ahn, Y. Yuan.

1515W   üRRBS-Predictor, a webtool to guide enhanced reduced-representation bisulfite (RRBS) analysis of genomic DNA methylation patterns. T. R. Ward, X. Zhu, A. E. Urban.

1516T   Analysis of archived residual newborn screening bloodspots after whole genome amplification, using Genformatic's genomic medicine tool suite. D. Weaver, B. Cantarel, J. Reese, R. Finnell.

1517F   Visualizing multiple types of genomic information across chromosomes with PhenoGram. D. Wolfe, S. M. Dudek, M. D. Ritchie, S. A. Pendergrass.

1518W   Massively parallel sequencing as a tool for HLA typing. W. Yang, Y. Huang, J. Yang, P. C. Sham, Y. L. Lau.

1519T   PHV: A highly accurate SNP and indel variant detector based on the Profile Hidden Markov Model. M. Zhao, W. Lee, G. T. Marth.

1520F   Resolving complex structural genomic rearrangements using a randomized approach. X. Zhao, S. B. Emery, J. M. Kidd, R. E. Mills.

1521W   Systematic integration of functional and computational genomics suggests that the indel rs79240969 in the DNM3 gene influences both bone- and obesity-related traits. M. Claussnitzer, X. Chen, D. Karasik, L. A. Cupples, D. P. Kiel, Y. H. Hsu.

1522T   The Developmental Brain Disorders Database: A curated neurogenetics knowledge base with clinical and research applications. G. Mirzaa, A. J. Barkovich, W. B. Dobyns, K. J. Millen, A. R. Paciorkowski.

1523F   Identifying putative functional variants from GWAS by utilizing ENCODE Consortium data. J. Hayes, X. Xu, J. Farber, M. Setty, A. González, A. Perez, V. Joseph, K. Offit, S. Raychaudhuri, C. Leslie, R. Klein.

1524W   Prioritization of pathways, genes and polymorphisms for dental caries. A. Nicolaou, M. Shibata, S. R. Diehl.

1525T   The human Genome Clinical Annotation Tool: Enabling clinicians with little bioinformatics background to analyze whole exome data. K. Wierenga, Z. Jiang, N. F. Tsinoremas.

1526F   SeqSIMLA: An efficient simulation software for generating sequences and phenotypes for complex disease studies. R. H. Chung, C. C. Shih.

1527W   RegScan: A tool for rapid estimation of allele effects on continuous traits and their combinations. T. Haller, M. Kals, T. Esko, R. Mägi, K. Fischer.

1528T   Shortening the diagnostic odyssey: Integrating genomic, structural, and phenotypic information to reduce time of rare disease diagnosis. R. Hariharan, M. Bhat, S. Agarwal, S. Krishna, B. Panda, V. Veeramachaneni.

1529F   Gene expression deconvolution using single cells. J. Lindsay, I. Mandoiu, C. Nelson.

1530W   Implementing a high performance, reusable consensus calling pipeline for next-generation sequencing using globus genomics. R. K. Madduri, A. Rodriguez, V. Trubetskoy, L. K. Davis, P. J. Dave, N. J. Cox, I. T. Foster.

1531T   Genome-wide structural variation analysis with genome mapping on nanochannel arrays. A. C. Y. Mak, J. J. K. Wu, Y. Y. Y. Lai, K. Y. Yip, T. F. Chan, E. T. Lam, T. P. Kwok, J. W. Li, A. K. Y. Leung, A. K. Y. Yim, M. Xiao, P. Y. Kwok, S. M. Yiu.

1532F   GeneZip: A gzip-based C library for compact imputed genotype storage in RAM. C. Palmer, I. Pe'er.

1533W   VariantMaster: A novel platform to identify causative variants from HTS data in familial, de novo and somatic genetic disorders including cancer. F. A. Santoni, P. Makrythanasis, S. Nikolaev, M. Guipponi, D. Robyr, A. Bottani, S. Antonarakis.

1534T   Accuracy of predictions of deleterious effects on protein function of multiple dominant negative and activating mutations in STAT3: Comparison of nine computational methods. M. S. Smith.

1535F   A graphical quality control tool for next-generation exome sequencing. J. D. Smith, S. McGee, D. A. Nickerson.

1536W   Evaluation of imputation method for classical HLA-DRB using a Finnish dataset. E. Vlachopoulou, E. Lahtela, A. Wennerström, A. S. Havulinna, P. Salo, M. Perola, V. Salomaa, M. S. Nieminen, J. Sinisalo, M. L. Lokki.

1537T   An adaptive permutation procedure to estimate the significance threshold for the minimum p-value of multiple permutation tests. P. Yajnik, M. Boehnke, H. Jiang.

1538F   BDgene: A genetic database for bipolar disorder and its overlap with schizophrenia and major depressive disorder. S. Chang, L. Guo, J. Wang.

1539W   PhenoVar: An innovative approach in clinical genomics for the diagnosis of polymalformative syndromes. C. Buote, Y. Trakadis, JF. Therriault, H. Larochelle, S. Lévesque.

1540T   A joint latent factor model for gene expression data with confounders. C. Gao, C. D. Brown, B. E. Engelhardt.

1541F   A clinical history weighting algorithm accurately classifies BRCA1 and BRCA2 variants. K. R. Bowles, B. Morris, E. Hughes, J. Eggington, L. Esterling, B. Robinson, A. Van Kan, B. Roa, E. Rosenthal, A. Gutin, R. Wenstrup, D. Pruss.

1542W   GenAP: Automated analysis of genetic HTS data for clinical diagnostic use. M. C. Eike, T. Hĺndstad, E. Nafstad, T. Hughes, T. Grünfeld, D. E. Undlien.

1543T   Variation data services at NCBI: Archives, tools, and curation for research and medicine. S. Sherry, K. Addess, V. Ananiev, C. Chen, D. Church, M. Feolo, J. Garner, T. Hefferon, D. Hoffman, B. Holmes, M. Kholodov, A. Kitts, J. Lee, J. Lopez, D. Maglott, R. Maiti, L. Phan, G. Riley, W. Rubinstein, D. Rudnev, Y. Shao, E. Shekhtman, K. Sirotkin, D. Slotta, R. Tully, R. Villamarin-Salomon, Q. Wang, M. Ward, H. Zhang, C. Xiao.

1544F   T2D2seq: An enhanced, novel algorithm to determine differential expression in RNA-seq data. E. D. Au, M. H. Farkas, J. A. White, E. A. Pierce.

1545W   Statistical model for the prioritization of causal genetic variants in next-generation sequencing data. J. A. Chen, G. Coppola.

1546T   The database of genotypes and phenotypes: dbGaP. M. Feolo, R. Bagoutdinov, S. Dracheva, L. Hao, Y. Jin, M. Kimura, M. Lee, J. Mena, N. Popova, S. Pretel, N. Sharopova, S. Stefanov, A. Stine, A. Sturcke, K. T. Tryka, Z. Wang, M. Xu, L. Ziyabari, S. T. Sherry.

1547F   Explore genetic components underlying dental caries through geneset- and network-assisted approaches. Q. Wang, P. Jia, K. T. Cuenco, Z. Zeng, E. Feingold, M. L. Marazita, L. Wang, Z. Zhao.

1548W   Variant association tools for association analysis of large scale sequence and exome genotyping array data. G. Wang, B. Peng, S. M. Leal.

1549T   Variant calling in low-coverage whole genome sequencing of a Native American population sample. C. Bizon, M. Spiegel, S. Chasse, I. R. Gizer, Y. Li, E. Malc, P. Mieczkowski, J. Sailsbery, X. Wang, C. L. Ehlers, K. C. Wilhelmsen.

1550F   Finding the clinical answer in genomic sequence: Narrowing the search space for disease-causing mutations. S. Garcia, G. Chandratillake, M. Clark, A. Patwardhan, S. Chervitz, R. Chen, E. Ashley, R. Altman, J. West, R. Chen.

1551W   Detecting disease-causing alleles with the human gene connectome. Y. Itan, J.-L. Casanova, L. Abel, S.-Y. Zhang, L. Quintana-Murci, G. Vogt, D. Fried, P. Nitschke, M. Herman, A. Abhyankar.

1552T   Incorporating phenotypic information to improve Mendelian disease-gene predictions. A. Javed, S. Agrawal, P. C. Ng.

1553F   VHB: A web-based visualization tool to compare the haplotype blocks of a study sample with the 1000 Genomes Project data. C. C. Lai, Y. T. Chen, W. P. Hsieh, C. Y. Tang.

1554W   Inferring HIV quasispecies from deep sequencing data. S. Mangul, N. Wu, N. Mancuso, A. Zelikovsky, R. Sun, E. Eskin.

1555T   Detection of sample-level contamination in next-generation sequencing experiments. T. E. Scheetz, A. P. DeLuca, E. M. Stone, T. A. Braun.

1556F   New mixed model estimates drug-effect or disease onset in association with covariates. M. Xu, Y. Y. Shugart.

1557W   Fast and accurate diploid genotype imputation via segmental hidden Markov model. L. Zhang, Y. F. Pei, H. W. Deng, Y. P. Wang.

1558T   CeRNA interactions cooperate with genomic variability to modulate drivers of tumorigenesis. H. S. Chiu, X. Yang, M. R. Martínez, P. Sumazin, A. Califano.

1559F   Mitochondrial Disease Sequence Data Resource Consortium: A global grass-roots effort to compile, organize, annotate, and analyze whole exome and/or genome datasets from individuals with suspected mitochondrial disease. X. Gai, D. Krotoski, M. Gonzalez, D. C. Wallace, M. Parisi, S. Zuchner, M. J. Falk.

1560W   Detection and characterization of mutations due to DNA damage and PCR amplification errors in targeted ultra-deep next-generation sequencing data. J. Eboreime, N. Arnheim, P. Calabrese.

1561T   Comparison of the performance of read mappers and assembly methods on indel calling. H. Lin, Y. Shen.

1562F   A Bayesian framework for de novo mutations calling in trios. Q. Wei, Y. Liu, Y. Han, X. Zhan, W. Chen, B. Li.

1563W   PhenoExplorer: A tool to help researchers identify relevant studies and phenotypic variables in dbGaP. J. Ambite, L. Lange, S. Sharma, S. Voinea, C. Hsu, Y. Arens.

1564T   How to reduce false positives: A quality assurance pipeline for phenotype data. A. Matchan, N. W. Rayner, A. E. Farmaki, K. Hatzikotoulas, E. Tsafantakis, M. Karaleftheri, L. Southam, K. Panoutsopoulou, G. Dedoussis, E. Zeggini.

1565F   Reconstructing pedigrees from estimates of genomic sharing in admixed populations. J. E. Below, J. Staples, A. Reiner, L. Ekunwe, E. L. Akylbekova, S. K. Musani, J. G. Wilson, C. R. Hanis, D. Nickerson.

1566W   Detecting differentially expressed genes in RNA-seq data with unknown conditions. G. Klambauer, T. Unterthiner, S. Hochreiter.

1567T   Development of quality control processes for next-generation sequencing technologies. P. Ebert, J. Calley, R. Higgs, X. Ma, T. Barber.

1568F   MAPRSeq — Mayo analysis pipeline for RNA-seq: A comprehensive workflow for RNA-sequencing data analysis. A. Nair, K. Kalari, J. Bhavasar, X. Tang, J. Davila, J. Nie, D. O'Brien, J. P. Kocher.

1569W   Assessment of the impact of read length on RNA-seq results: An ABRF Consortium study. J. A. Rosenfeld, G. Rudy, S. Chhangawala, P. Wu, S. Tighe, M. D. Wang, D. A. Baldwin, G. Grills, C. E. Mason, ABRF-NGS Consortium.

1570T   Enlight: A web-based tool for integrating GWAS results with biological annotations. Y. Guo, D. Conti, K. Wang.

1571F   RNA-seq analysis of alternative splicing events in Drosophila melanogaster. Y. Li, X. Rao, C. Amos, B. Liu.

1572W   Modeling complex autoimmune disease susceptibility in the skin with regulatory and genetic-genomic interface networks. J. C. Chen, A. M. Christiano.

1573T   Network communicability: An effective alternative metric for genome analysis. C. Shaw, I. M. Campbell.

1574F   Quantifying gene expression and allele specific expression simultaneously using personal human genomes. N. Raghupathy, K. Choi, S. C. Munger, G. A. Churchill.

1575W   A comprehensive resequence-analysis of 250kb region of 8q24.21 in men of African ancestry. C. C. Chung, A. W. Hsing, E. Yeboah, R. Biritwum, Y. Tettey, A. Adjei, M. B. Cook, A. De Marzo, G. Netto, J. F. Boland, M. Yeager, S. J. Chanock.

1576T   Integrating multiple reference sequences, known variation and de novo assembly for personal genome inference. A. T. Dilthey, Z. Iqbal, C. Cox, M. R. Nelson, G. McVean.

1577F   Genotyping of exotic structural variants using BWA and Pindel in whole genome and exome sequence data. D. S. Hanna, J. D. Smith, D. A. Nickerson, J. M. Swanson, E. M. Faust.

1578W   High-coverage whole genome sequencing of thirty Brazilian admixed individuals. M. Machado, R. Moreira, E. Tarazona-Santos, A. C. Pereira, M. L. Barreto, B. L. Horta, M. F. Lima-Costa, A. Horimoto, N. Esteban, F. Kehdy, M. Rodrigues, W. C. S. Magalhaes, Brazilian Epigen Consortium.

1579T   Multi-platform and cross-methodological reproducibility of transcriptome profiling by RNA-seq in the ABRF Next-Generation Sequencing Study. C. E. Mason, S. Li, S. W. Tighe, C. M. Nicolet, D. Grove, S. Levy, W. Farmerie, A. Viale, C. Wright, P. A. Schweitzer, Y. Gao, D. Kim, J. Boland, B. Hicks, R. Kim, S. Chhangawala, N. Jafari, N. Raghavachari, C. Hendrickson, D. Roberson, J. Rosenfeld, T. Smith, J. Underwood, M. Wang, P. Zumbo, D. Baldwin, G. Grills, ABRF-NGS Consortium.

1580F   Identifying genomic copy number alteration and loss of heterozygosity in next-generation sequence data. S. Rozen, J. R. McPherson, Y. Wu, P. Tan.

1581W   Reducing platform bias in next-generation sequencing. L. Saag, U. Gerst Talas, M. Mitt, R. Villems, M. Metspalu.

1582T   Customized and personalized next-generation genomics. A. N. Singh.

1583F   Identifying Mendelian disease genes: An analysis tool of PhenoDB. N. Sobreira, F. Schiettecatte, D. Valle, A. Hamosh.

1584W   The European genome-phenome archive. V. Kumanduri, A. Datta, J. Almeida-King, L. Clarke, I. Lappalainen, P. Flicek, J. Paschall.

1585T   The medical exome project: From concept to implementation. A. Santani, S. Gowrishankar, C. da Silva, D. Mandelkar, A. Sasson, M. Sarmady, R. Shakhbatyan, S. Tinker, D. Church, B. Funke, M. Hegde.

1586F   Accurate identification of allele imbalances in samples with limited genotype information available. M. L. Buchkovich, K. E. Eklund, Q. Duan, Y. Li, K. L. Mohlke, T. S. Furey.

1587W   Scalable variant identification and imputation across large multigenerational pedigrees from high-throughput sequencing data by joint Bayesian variant calling. F. M. De La Vega, S. Malakshah, R. Littin, L. Trigg, A. Jackson, D. Ware, J. G. Cleary.

1588T   Advantages of single-molecule, solid-state nanodetectors for genome mapping. B. Galvin, B. Bready, D. Dederich, A. Forget, J. Frietas, H. Geiser, P. Goldstein, D. Goryunov, H. Heaton, D. Hevroni, M. Jouzi, M. Kaiser, H. Lee, T. Leffert, D. Lloyd, S. Marappan, E. Olejnik, J. Oliver, L. Seward, A. Snider, J. Tang, J. Thompson, M. Zhang.

1589F   Validation of the second and the third generation sequencers by de novo assembling using AT rich, repetitive, homopolymeric human BAC DNA. T. Hirano, Y. Terabayashi, K. Teruya, M. Teruya, M. Shimoji, H. Tamotsu, A. Arasaki, K. Nakano, A. Shiroma, K. Satou, Y. Yamaoka, A. Sekine.

1590W   Developing 400-base sequencing for the Ion PGM® System. A. I. Kraltcheva, D. J. Mazur, G. Luo, X. Peng, T. L. Lincecum, G. Lowman, M. A. Landes, B. Strohecker, K. N. Aguinaldo, T. Nikiforov, E. Tozer, J. J. Shirley, P. Vander Horn.

1591T   GenomeBrowse: Visual analytics and false-positive discovery for DNA and RNA-seq NGS data. G. Linse Peterson, G. Rudy, S. Gardner, M. Thiesen, A. Laughbaum.

1592F   Improving the robustness of personal genome variant discovery: The impact of technical replicates, sample source and analysis method. D. Mittelman, A. Del Duca, R. M. Iwasiow, N. Leibovich, J. Wang, M. Tayeb.

1593W   Genome in a Bottle Consortium: Update on a public-private-academic consortium developing a standards infrastructure for human genome sequencing. S. A. Munro, J. Zook, M. Salit, Genome in a Bottle Consortium.

1594T   Change can be good: Updating the human reference genome assembly. V. A. Schneider, P. Flicek, T. Graves, T. Hubbard, D. M. Church, for Genome Reference Consortium.

1595F   A fast solution to NGS strand-specific RNA Library Prep. C. Sumner, D. Munafo, P. Liu, L. Apone, B. Langhorst, E. Yigit, F. Stewart, E. Dimalanta, T. Davis, J. Bybee, L. Mazzola, D. Rodriguez, V. Panchapakesa.

1596W   Targeted sequencing for preterm birth associated genes. A. Uzun, I. Kurihara, B. McGonnigal, J. F. Padbury.

1597T   Well-characterized genomes for understanding genome sequencing performance: Integrating datasets from multiple sequencing platforms to form highly confident SNP and indel calls. J. M. Zook, B. Chapman, O. Hofmann, W. Hide, D. Mittelman, J. Wang, M. Salit, Genome in a Bottle Consortium.

1598F   Exome sequencing facilitated by a fast library preparation method with low nanogram DNA input. P. Liu, C. L. Hendrickson, B. Boone, B. Langhorst, L. Apone, D. Munafo, Y. Yigit, C. Sumner, V. Panchapakesa, D. Rodriguez, F. Stewart, T. Evans, Jr., N. Nichols, S. Levy, E. Dimalanta, T. Davis.

1599W   Power and limitations of RNA-sequencing. F. Staedtler, E. J. Oakeley.

1600T   Evaluation of Ion Torrent-based rapid deep sequencing for mutation discovery and prevalence screening in rare human myeloproliferative neoplasms and brain tumors. L. Wang, S. Yamaguchi, L. Lewis, M. Holder, K. Chang, K. Walker, H. Dinh, H. Doddapaneni, D. Muzny, R. Gibbs, C. Lau, D. Wheeler.

1601F   De novo assembly mapping with single-molecule detection using electronic solid-state detectors. W. H. Heaton, B. Bready, B. Galvin, P. Goldstein, A. Snider, J. Thompson, J. Oliver.

1602W   Comparative analysis of six splice-aware alignment and two differential expression assessment tools for RNA-seq data. J. H. Kim, O. Evgrafov, J. Knowles, K. Wang.

1603T   Next-generation sequencing PCR primer design tool for Sanger sequencing confirmation. S. Berosik, M. Wenz, A. Karger, P. Brzoska, F. Hu, X. You, W. Liao.

1604F   Mobile element scanning (ME-Scan) for Alu insertions in families and populations. D. J. Witherspoon, W. S. Watkins, M. A. Batzer, L. B. Jorde.

1605W   Integrative analysis of metabolomics and transcriptomics data: A unified model framework to identify underlying system pathways. C. Ekstrom, K. Brink-Jensen.

1606T   Tissue-specific functional relationship networks effectively predict replicated GWAS discoveries. C. S. Greene, A. K. Wong, A. Krishnan, D. S. Himmelstein, O. G. Troyanskaya.

1607F   A semantic computing platform to enable translational and clinical omics. J. Hirsch, J. Carroll, T. Loeser.

1608W   Establishing a clinical next-generation sequencing information infrastructure. A. Hoover, M. Kubal.

1609T   From big data to smart data: An open-source solution for genome-scale variant data warehousing and discovery. M. J. Italia, B. Ruth, M. Sarmady, J. C. Perin, D. Naegely, A. Santani, M. Dulik, N. B. Spinner, I. D. Krantz, J. W. Pennington, P. S. White.

1610F   Integration of ENCODE datasets to epigenomics analysis using colored De Bruijn graphs. C. Joly Beauparlant, J. Corbeil, A. Droit.

1611W   The Japanese reference genome in human variation database. A. Koike, M. Kawashima, Y. Suzuki, H. Sawai, M. Yoshida, N. Nishida, I. Inoue, S. Tsuji, K. Tokunaga.

1612T   IScore and ALTrate: Inferring human diversity using genome-wide gene-based patterns of nucleotide substitution, insertion and deletion. K. Y. Lo, Y. R. Lo, F. C. Hsiao, W. J. Lin, Y. D. Chiu, C. K. Liu, A. Yao, C. J. Chen, C. Y. Shen, C. H. Chen.

1613F   Using ontologies to enhance integration and analyses of ENCODE data. V. S. Malladi, J. S. Strattan, D. T. Erickson, E. T. Chan, E. L. Hong, G. Barber, G. Binkley, J. Garcia, B. C. Hitz, D. Karolchik, K. Learned, B. Lee, S. Miyasato, G. Moro, G. R. Roe, K. Rosenbloom, L. D. Rowe, N. R. Podduturi, M. Simison, C. A. Sloan, E. Weiler, W. J. Kent, J. M. Cherry.

1614W   A web-based framework for querying genomic relational databases using SQL. S. F. Saccone, P. L. Jones.

1615T   A systematic approach to large-cohort biomarker discovery. A. Solomon, S. Sanga, A. Vladimirova, T. Klingler.

1616F   Beyond the noise: A case study on optimizing computing performance in the cloud. J. Yeager, G. Manglik.

1617W   Automatic analysis of personal genomes for clinical advisors. G. E. Zinman, Clinical Genomic Expert Team.

1618T   Mining human genetic variation with GEMINI — A novel integrative framework for explorative analysis. U. Paila, B. Chapman, R. Kirchner, A. Quinlan.

1619F   A generalized scalable database model for storing and exploring genetic variations detected using sequencing data. N. Chennagiri, B. Breton, M. Umbarger, P. Saunders, G. Porreca, C. Kennedy.

1620W   The European Variation Archive at the EBI. I. Lappalainen, D. Spalding, S. Saha, L. Skipper, J. Ameida-King, V. Kumanduri, P. Flicek, J. Paschall.

1621T   RD-Connect: An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. R. Thompson, I. Gut, K. Bushby, E. Heslop, L. Johnston, D. Taruscio, L. Monaco, C. Beroud, M. Hansson, H. Lochmüller, on behalf of RD-Connect.

1622F   A comparison of imputation quality: Combining different GWAS platforms. E. P. A. van Iperen, G. K. Hovingh, F. W. Asselbergs, A. H. Zwinderman.

1623W   RNA-seq optimization with eQTL gold standards. S. E. Ellis, S. Gupta, F. N. Ashar, J. S. Bader, A. B. West, D. E. Arking.

1624T   A graph-based integration with multi-omics data and genomic knowledge for cancer clinical outcome prediction. D. Kim, J. Joung, K. Sohn, H. Shin, M. D. Ritchie, J. H. Kim.

1625F   Phenotype to genome: Quantitative trait loci in the Mouse Genome Informatics Database. Y. S. Zhu, D. J. Reed, P. Hale, C. J. Bult, Mouse Genome Informatics Database Group.

1626W   Comprehensive analyses of the functional roles of KAO-NASHI genes in the vertebrate organogenesis using medaka model. Y. Tonoyama, A. Shimizu, N. Iwakura, Y. Shimizu, N. Shimizu.

1627T   Rapid and uniform whole exome libraries from 50 ng of DNA. M. Andersen, K. Rhodes, S. Roman, A. Broomer, C. Van Loy, D. Topacio, M. Allen, S. Rozenzhak, G. Liu.

1628F   ZoomMiR, a computational method to predict and screen for variants that disrupt microRNA binding and activity. A. N. Dubinsky, L. E. Edsall, A. R. La Spada, T. Gaasterland, The NEIGHBOR Consortium.

1629W   Characterization of human betacoronavirus 2c EMC/2012 linked to acute respiratory distress syndrome in humans. C. Olsen, K. Qaadri, P. Meintjes.

1630T   Comparative analysis of whole exome and whole genome DNA sequencing. M. M. Parker, M. A. Taub, K. N. Hetrick, H. Ling, R. A. Mathias, J. B. Hetmanski, H. Albacha-Hejazi, A. F. Scott, I. Ruczinski, J. E. Bailey-Wilson, T. H. Beaty.

1631F   A practical evaluation of next-generation sequencing and molecular cloning software. K. Qaadri, C. Olsen, P. Meintjes.

1632W   Detection of rare variants in degraded FFPE samples using HaloPlex PCR. F. Roos, E. Ĺström, M. Danielsson, F. Karlsson, M. Isaksson, L. Forsmark, P. Eriksson, H. Johansson.

1633T   Globus genomics: Enabling high-throughput analysis and management of NGS data for neurodevelopmental disorders. D. Sulakhe, A. Paciorkowski, G. Mirzaa, R. Madduri, Q. Zhang, K. Aldinger, J. Bennett, L. Lacinski, P. Dave, W. Dobyns.

1634F   Detecting contamination in next-generation DNA sequencing libraries. M. A. Umbarger, M. J. Coyne, E. D. Boyden, G. J. Porreca.

1635W   Cluster solutions to the analysis of large genetic datasets. D. J. Van Booven, A. Mehta, R. F. Acosta Lebrigio, E. R. Martin, R. H. Ulloa, J. Zysman, G. W. Beecham.

1636T   High-throughput CNV analysis for translational research. G. Geiss, B. Birditt, J. Gerlach, J. Beechem.

1637F   Genome analysis of individual cells. C. Korfhage, E. Fisch, E. Fricke, S. Baedker, U. Deutsch, D. Loeffert.

1638W   Subcellular fractionation proteomics is an indispensable tool for polypharmacology studies for the identification of molecular targets and transcription modulator — A case study on the anticancer auranofin. S. Tian, F.-M. Siu, Y. M. E. Fung, C.-N. Lok, C.-M. Che.

1639T   A complete system for next-generation sequencing workflow: From automated assay design and library preparation to superior sequencing results. J. Walker, C. Egidio, X. Wang, K. Datta, R. Ramakrishnan.

1640F   Rapid preparation of exome sequencing libraries using HaloPlex. H. Johansson, B. Skarpĺs, E. Agné, A. Karlgren, K. Zetterman, M. Isaksson, P. Eriksson, L. Forsmark, F. Roos.

1641W   Use of a targeted next-generation sequencing approach for the study of a cardiac valve malformation with complex polygenic heritability. E. M. Bonachea, G. A. Zender, D. Corsmeier, S. M. Fitzgerald-Butt, D. Newsom, P. White, V. Garg, K. L. McBride.

1642T   An integrated approach for accurate calling and assessment of structural variations for clinical diagnostics. H. Lam, M. Li, S. Chervitz, D. Newburger, S. Garcia, G. Chandratillake, M. Clark, N. Leng, J. Harris, M. Pratt, M. Snyder, J. West, R. Chen.

1643F   Direct selection of microbiome DNA from host DNA. E. Yigit, G. Feehery, S. Oyola, B. Langhorst, L. Apone, P. Liu, D. Munafo, C. Sumner, J. Bybee, L. Mazzola, F. Stewart, M. Quail, T. Davis, E. Dimalanta, S. Pradhan.

1644W   In solution HLA capture and high-resolution NGS-based typing method and an automated, integrated analysis framework. M. Wittig, J. A. Anmarkrud, M. Forster, E. Ellinghaus, K. Holm, L. Wienbrandt, S. Sauer, M. Schimmler, M. Ziemann, S. Görg, T. H. Karlsen, A. Franke.

1645T   The new sequencer on the block: Comparison of Life Technology’s Proton Sequencer to an Illumina HiSeq for whole exome sequencing. J. Boland, M. Yeager, M. Dean, D. Roberson, J. Mitchell, S. Chanock.

1646F   New automated systems for size-selection in NGS library construction. C. Boles, S. Singh, T. Barbera, E. Abrams.

1647W   Further improvements in sequencing technologies on Illumina platforms. H. Duckworth, J. Weir, G. Smith, J. Betley, P. McInerny, P. McCauley, K. Ahmad, D. Bond, S. Robinson, L. Kangas, M. Fabani, A. Iyer, K. Hall.

1648T   Towards the 24 hour medical genome. K. Hall, J. Weir, S. Humphray, Z. Kingsbury, E. Tsogi, P. Smith, S. Macarthur, E. E. Margulies, J. Betley, J. Peden, N. Miller, E. Farrow, L. Willig, J. Petrikin, D. Dinwiddie, C. Saunders, G. Twist, L. Smith, S. Soden, M. Gibson, S. Kingsmore.

1649F   Droplet digital partitioning improves amplicon coverage of multiplexed assays in NGS library construction. N. J. Heredia, S. Hodges, S. Cooper, S. Tzonev, D. Skvortsov, E. Hefner.

1650W   Accelerated sample prep workflow for target enrichment from low input. H. Hogrefe, B. Arezi, A. Belyaev, M. Borns, M. Corioni, J. Fox, C. Hansen, E. Lin, B. Novak, C. Pabon, B. Rogers, D. Roberts, F. Useche.

1651T   Performance evaluation of bench-top next-generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder. E. Koshimizu, S. Miyatake, N. Okamoto, M. Nakashima, Y. Tsurusaki, N. Miyake, H. Saitsu, N. Matsumoto.

1652F   Comparison of enzymes, shear time and capture products to improve whole exome sequencing workflow. B. Marosy, B. Craig, K. Hetrick, H. Ling, A. Robinson, S. Griffith, J. Romm, K. F. Doheny.

1653W   Simplified and improved methods for preparing high quality genomic libraries for use on Illumina® sequencing systems. V. P. Smith, S. J. Humphray, R. M. Sanches-Kuiper.

1654T   Successful whole exome sequencing of genomic DNA isolated from preserved mixed-placental tissues. M. K. Veerapen, L. Pelaez, M. M. Rodriguez, J. E. Potter, E. Rampersaud, O. A. Bodamer.

1655F   Nextera® Rapid Capture: The fastest in-solution capture assay for whole exome and custom targeted enrichment. M. Virata, S. Snow, S. Melnyk, L. Galver, E. Allen, S. Kumar, R. Shen, S. de Rozieres.

1656W   Comparison of conventional and PCR-free library preparation methods for next-generation sequencing. P. D. Witmer, B. Marosy, B. Craig, K. Hetrick, A. Robinson, K. Doheny.

1657T   A complete workflow from sample preparation to analysis using SureSelect target enrichment system for ion proton semiconductor sequencing. K. Jeong, J. Ong, E. Agne, F. Karlsson, A. Ashutosh, C. Cocq, F. Useche, J. Ghosh, H. Johansson, S. Happe, D. Roberts.

1658F   Accurate modeling of indel genotype likelihoods from sequencing data. A. Tan, H. M. Kang, G. R. Abecasis.

1659W   Dissecting gene regulation networks at single-cell resolution. X. Wang, J. Shuga, P. Chen, J. Wang, S. Weaver, N. Li, L. Szpankowski, B. Fowler, A. Leyrat, G. Sun, M. Unger, J. A. West.

1660T   Efficient and accurate whole-genome human phasing. T. Blauwkamp, V. Kuleshov, D. Pushkarev, S. Swamy, A. Halpern, K. Singh, R. Sit, A. Granat, J. Zhang, A. Young, K. Kuhn, R. Shen, M. Kertesz, G. Smith.

1661F   A complete work flow for single cell next-generation sequencing: From flow sorting, library preparation, to sequencing analysis. X. Y. Wang, R. Li, I. Khrebtukoba, J. Crane, C. Mason, G. P. Schroth.

1662W   Improved computational and experimental methods for targeted DNA sequencing with molecular inversion probes. E. A. Boyle, B. J. O'Roak, B. K. Martin, A. Kumar, A. P. Lewis, J. Shendure.

1663T   A novel in situ isothermal amplification method for next-generation sequencing. Z. Ma, R. lee, S. Goyals, J. Erikson, K. Lao.

1664F   Enhanced solution based target enrichment using oligonucleotide probes and a novel composition of blocking oligonucleotides. S. D. Rose, K. L. Popp, C. C. Locklear, A. N. Dvorak.

1665W   A fast solution for NGS library prep with low nanogram DNA input, for multiple sequencing platforms. F. J. Stewart, P. Liu, G. J. S. Lohman, E. Cantor, B. W. Langhorst, E. Yigit, L. M. Apone, D. B. Munafo, C. Sumner, D. Rodriguez, V. Panchapakesa, J. Bybee, L. M. Mazzola, T. C. Evans, N. M. Nichols, E. T. Dimalanta, T. B. Davis.

1666T   Profiling of the T-cell receptor variable region gene segment usage in tissue biopsies using Nanostring nCounter. T. Peters, T. Valensise, N. Cheung, A. Seguin, V. Petitjean, E. J. Oakeley, S. Starck-Schwertz, M. Letzkus, K. J. Johnson, F. Staedtler.

1667F   Evaluation of whole genome amplified DNA and reduced genomic DNA for high performance of Illumina SNP microarrays. C. L. Dagnall, L. M. Morton, B. D. Hicks, W. Zhou, X. Deng, M. Yeager, S. J. Chanock.

1668W   Utilizing the QuantStudio™ 3D Digital PCR System for BRAF V600E mutation detection in papillary thyroid carinoma and malignant melanoma. K. Hayashibara, L. Degoricija, E. Springer.

1669T   Desktop sequencing using a single-use cartridge-based consumable that includes target enrichment, amplification and sequencing. T. Raz, A. Gulamali, F. Zhuang, H. Ghandour, J. Sram, J. Healy, J. Downer, M. Griesbach, N. Nerkizian, P. Mary, S. Haserlat, V. Chellappa, J. Boyce.

1670F   The advantage of cold plasma in genomic analysis. C. Lunn, J. Shieh, P. Hensley.

1671W   Enhanced performance of whole exome and other targeted sequencing of small clinical samples. J. Langmore, E. Kamberov, S. Yerramilli, T. Tesmer, J. Jessman, M. Carey, M. Carroll.

1672T   SureSelect strand specific RNA library prep kit provides a fast and streamlined workflow for preparing directional libraries from total RNA. B. Arezi, B. Hsue, F. Useche, A. Tsalenko, B. Novak, A. Lucas, K. Chen, H. Tang, H. Hogrefe.

1673F   A complete work flow for single cell transcriptome analysis: From flow sorting to gene expression analysis. C. Mason, L. Dennis, M. Krouse, J. Beechem, D. Mittar, E. Park, X. Y. Wang.

1674W   Streamlined methods for miRNA and strand specific RNA library construction for the Ion Torrent PGM. D. Munafo, L. McReynolds, B. Langhorst, C. Sumner, P. Liu, E. Yigit, L. Apone, F. Stewart, J. Bybee, L. Mazzola, E. Dimalanta, T. Davis.

1675T   Novel method for multiplex small-RNA library preparation with improved performance and higher sensitivity. D. Rodriguez, D. Munafo, L. McReynolds, B. Langhorst, L. Apone, P. Liu, V. Panchapakesa, C. Sumner, E. Yigit, F. Stewart, E. Dimalanta, T. Davis.

1676F   Molecular indexing for improved RNA-seq analysis. M. Toloue, J. Risinger, P. Nakashe.

1677W   The Fluidigm® biobanking panel sensitively identifies gender contamination, sample degradation and low quality samples. M. M. Lee, N. Y. Tuason.

1678T   SNP genotyping using Affymetrix Axiom® genotyping solution. M. Shapero, H. Loi, J. Law, A. Yan, D. Nguyen, C. S. Yu, M. Purdy, R. Kurapati, M. Shirazi, L. Bellon.

1679F   Successful Illumina Infinium BeadChip high-density genotyping from fragmented and low concentration samples. J. C. Tackney, D. J. Witherspoon, L. B. Jorde.

1680W   Computational pipeline for whole genome sequencing data analysis — An application to trio families with 22q11 deletion. J. Cai, K. Coleman, Z. Zhang, B. Morrow.

1681T   Blueprint: Resources provided by the large-scale epigenomics project. L. Clarke, D. Richardson, S. Wilder, P. Flicek, BLUEPRINT Consortium.

1682F   Exome sequencing identifies de novo mutations in patients with intellectual disability and epilepsy. J. Halvardson, A. Zaghlool, A. C. Thuresson, L. Feuk.

1683W   An ensemble genotyping approach for whole genome sequencing to reduce erroneous variant calls. I. H. Lee, J. H. Park, Y. Choe, M. B. Neu, K. Lee, T. Hambuch, I. S. Kohane, R. C. Green, S. W. Kong, The MedSeq Project.

1684T   Investigating the significance of genetic proximity for HLA matched donors and recipients in unrelated allogeneic stem cell transplantation. A. Madbouly, V. Paunic, M. Maiers.

1685F   Heterogeneity of global gene expression microarray designs in detecting differentially expressed genes. G. Malerba, D. Noel, A. Ferrarini, L. Xumerle, V. Mijatovic, P. F. Pignatti, M. Delledonne.

1686W   Representation of medical variation at NCBI: ClinVar, Gene, and MedGen. D. Maglott, M. Landrum, J. Lee, W. Rubinstein, K. Katz, W. Jang, D. Hoffman, S. Chitipiralla, M. Ovetsky, J. Garner, R. Tully, L. Phan, D. Shao, R. Maiti, R. Villamarin, S. Gorelenkov, S. Sherry, D. M. Church.

1687T   Meta-analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed by clustered WGGA sequences. J. Suhl, P. Chopra, S. Warren.

1688F   Real-world performance of five long-range PCR enzymes to amplify ~10kb amplicons from human genomic DNA. H. Jia, K. Wang.

1689W   Next-generation sequencing and novel variant determination in a cohort of 86 familial exudative vitreoretinopathy patients. J. Salvo, H. Wang, K. Wang, D. Nguyen, K. Zhang, R. Chen.

1690T   Evaluation of two commercial exome capture kits on the ion proton. F. Gedge, C. Chan.

1691F   A single-tube high-plex PCR approach for targeted massively parallel sequencing applied to FFPE tumour-derived material. T. Nguyen-Dumont, B. J. Pope, F. Hammet, M. C. Southey, D. J. Park.

1692W   PhenoTips: Patient phenotyping software for clinical and research use. M. Girdea, S. Dumitriu, M. Fiume, S. Bowdin, K. Boycott, S. Chénier, D. Chitayat, H. Faghfoury, M. S. Meyn, P. N. Ray, J. So, D. J. Stavropoulos, M. Brudno.

1693T   Sequencing single human and bacterial cells at low coverage for aneuploidy, CNV, and genotyping applications. E. Kamberov, T. Tesmer, S. Yerramilli, J. Jessman, M. Carey, M. Carroll, J. Langmore.


Statistical Genetics and Genetic Epidemiology

 

1694W   Cis and trans protein quantitative trait loci identified using a high-throughput protein assay in 297 individuals from the AddNeuroMed cohort: The European collaboration for the discovery of novel biomarkers for Alzheimer's disease. J. E. Mollon, M. Sattlecker, S. Kiddle, C. Johnstone, K. Lunnon, P. Proitsi, J. Powell, A. Hodges, S. K. Nelson, A. Stewart, S. Williams, H. Soininen, I. Kloszewska, P. Mecocci, M. Tsolaki, B. Vellas, S. Lovestone, S. Newhouse, R. Dobson.

1695T   Non-additive effects of genes in human metabolomics. Y. A. Tsepilov, J. S. Ried, C. Gieger, K. Strauch, S. Shin, N. Soranzo, T. Spector, Y. S. Aulchenko.

1696F   Integrating population genetic and functional genomic resources for accurate prediction of deleterious protein-altering variants. P. J. Walter, M. Sampson, H. M. Kang.

1697W   Mixed model approaches for transcriptome profiling of reciprocal dosage imbalances. A. Ragavendran, I. Blumenthal, S. Erdin, L. Klei, K. Roeder, B. Devlin, M. E. Talkowski.

1698T   Statistical inference of eQTL sharing among many tissues. T. Flutre, X. Wen, J. Pritchard, M. Stephens.

1699F   A genome-wide assay for regulatory functional potential of sequence variants. J. M. Peralta, J. Blangero, L. J. Abraham, E. Moses.

1700W   DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts. D. V. Zhernakova, E. de Klerk, H.-J. Westra, A. Mastrokolias, S. Amini, Y. Ariyurek, R. Jansen, B. W. Penninx, J. J. Hottenga, G. Willemsen, E. J. de Geus, D. I. Boomsma, J. H. Veldink, L. H. van den Berg, C. Wijmenga, J. T. den Dunnen, G.-J. B. van Ommen, P. A. C. ‘t Hoen, L. Franke.

1701T   The association of urinary interferon inducible protein-10 levels with kidney allograft rejection. S. Firasat, A. Raza, A. Abid, T. Aziz, M. Mubarak, S. A. A. Naqvi, S. A. H. Rizvi, S. Khaliq, S. Q. Mehdi.

1702F   A general statistic framework for identifying genetic variants of clinical significance. L. Ma, M. Xiong.

1703W   The n=1 problem in human genetics: Identification of rare disease mutations from single genomes. A. B. Wilfert, J. N. Constantino, D. F. Conrad.

1704T   Meta-analysis of twelve genome-wide association studies identifies novel genetic loci associated with mammographic density phenotypes. S. Lindström, D. Thompson, A. D. Paterson, J. Li, G. L. Gierach, J. Stone, J. A. Douglas, I. dos Santos Silva, J. Benitez, C. Scott, P. A. Fasching, L. Baglietto, M. Southey, G. Giles, M. Pollan, J. Figueroa, F. J. Couch, J. L. Hopper, P. Hall, D. F. Easton, N. F. Boyd, C. M. Vachon, R. M. Tamimi, Markers of Density (MODE) Consortium.

1705F   Significant role of combined alleles of hormonal receptors and hepatocanalicular transporter gene in susceptibility to cholesterol gallstone disease. A. Srivastava, A. Mishra, B. Mittal.

1706W   Bivariate heritability analyses of cardiac conduction and repolarisation measures show a paucity of shared genetic influences. J. Alghamdi, C. Hastie, C. Schulz, C. Brown, L. Hocking, M. Luciano, D. Porteous, A. Morris, B. Smith, A. Dominiczak, S. Padmanabhan.

1707T   A signal of polygenic inheritance from low frequency variants in case-control genome-wide association studies elucidates genetic architecture of common diseases. Y. Chan, E. T. Lim, N. Sandholm, A. J. McKnight, S. Ripke, M. J. Daly, B. M. Neale, R. M. Salem, J. N. Hirschhorn.

1708F   Identification of 6 novel type 2 diabetes susceptibility loci using genome-wide association studies imputed from a 1000 Genomes (June 2012) reference panel. I. Prokopenko, C. Ma, A. P. Morris, H. Chen, S. M. Willems, Q. Qi, K. J. Gaulton, M. Li, C. Ladenvall, N. Van Zuydam, J. S. Ried, D. Thuillier, Y. Lu, G. Thorleifsson, C. Fuchsberger, R. Mägi, L. J. Scott, on behalf of DIAGRAM+ Consortium.

1709W   Predictive genetic modeling in identifying metabolic syndrome development. A. T. Kraja, M. A. Province, I. B. Borecki.

1710T   Should we account for the random effect of relatedness when using principal component analysis in GWAS? M. de Andrade, J. P. Soler.

1711F   Genome-wide association study of ventricular fibrillation in the setting of acute myocardial infarction. R. Pazoki, J. S. S. G. de Jong, M. E. Adriaens, N. Bruinsma, L. R. C. Dekker, L. Beekman, A. A. M. Wilde, M. W. Tanck, C. R. Bezzina.

1712W   Genetic determinants of plasma levels of vitamin D binding protein in U.S. black women. E. A. Ruiz-Narvaez, L. Rosenberg, S. A. Haddad, J. R. Palmer.

1713T   Bayesian polygenic risk prediction using summary statistics. B. J. Vilhjalmsson, J. Yang, S. Lindstrom, A. Gusev, S. Ripke, N. Patsopoulos, R. Do, E. Stahl, B. Pasaniuc, S. Pollack, N. Zaitlen, H.-H. Won, S. Kathiresan, M. E. Goddard, N. Wray, P. L. De Jager, M. Daly, P. M. Visscher, P. Kraft, N. Patterson, A. L. Price.

1714F   Genetic variations in telomere-maintaining genes and adult-onset cancers. S. Hwang, J. M. Murabito, A. P. Reiner, A. Aviv, D. Levy.

1715W   Genetic analysis of TOMM40 and APOE for the onset of dementia in the Honolulu-Asia Aging Study. M. W. Lutz, D. Goldgaber, D. K. Burns, A. M. Saunders, L. R. White, A. D. Roses.

1716T   Molecular screening of CFTR gene mutations in North Indian asthmatic children: A case-control study. P. Dixit, S. Awasthi, N. Maurya, S. Agarwal, M. Srinivasan.

1717F   The association of HLA-DQB1 alleles with nonalcoholic fatty liver disease in Turkish population. S. Katrinli, L. Doganay, Y. Colak, E. Senates, O. Ozturk, C. Ulasoglu, N. Karatas, I. Tuncer.

1718W   Genetic susceptibility of FCER2 gene variants with asthma and its severity in North Indian children: A case-control study. N. Sharma, S. Awasthi, S. R. Phadke.

1719T   Significant association of perilipin polymorphisms with LDL-cholesterol level. I. Naka, R. Kimura, T. Inaoka, Y. Matsumura, J. Ohashi.

1720F   Genetic risk models: Model size and confidence intervals of the risk estimates. Y. Shan, D. T. Smelser, G. Tromp, H. Kuivaniemi, D. E. Weeks.

1721W   Genetic risk score modeling in age-related macular degeneration. J. N. Cooke Bailey, J. D. Hoffman, L. M. Olson, W. Cade, N. Schnetz-Boutaud, P. Mayo, M. Allen, A. Agarwal, M. A. Brantley, W. K. Scott, M. A. Pericak-Vance, J. L. Haines.

1722T   Genetic variation at the CY2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population. V. Gaio, A. Fernandes, F. Mendonça, F. Horta Correia, A. Beleza, A. Gil, M. Bourbon, A. Vicente, C. Dias, M. Barreto da Silva.

1723F   Hearing function and loss: A complex multistep strategy to identify genetics and environmental factors. G. Girotto, D. Vuckovic, A. Buniello, K. Steel, P. Gasparini.

1724W   GWAS on an admixed Chilean sample of cases and controls to identify the genetic basis of the phenotypic variability in 22q11 microdeletion syndrome. S. Eyheramendy, F. Manevy, M. Ramirez, C. Vial, K. Espinoza, J. C. Rivera, G. Repetto.

1725T   Multi-step LASSO approach identifies a chromosomal segment associated with working memory. V. Freytag, L. Gschwind, A. Milnik, D. de Quervain, A. Papassotiropoulos, C. Vogler.

1726F   Genetic dynamic model for temporal quantitative trait with both GWAS and next-generation sequencing data. G. Zewdie, M. Xiong.

1727W   Does haplotype tests gain more power than collapsing tests in pedigree-based association studies for detecting rare variants. W. Guo, Y. Yao.

1728T   Localization of causal variants at loci with multiple signals of association. F. Hormozdiari, E. Kostem, E. Kang, B. Pasaniuc, E. Eskin.

1729F   A phenome-wide association study exploration of multiple traits at baseline in AIDS clinical trial group protocols. C. B. Moore, A. Verma, D. H. Johnson, E. S. Daar, R. M. Gulick, R. Haubrich, G. K. Robbins, S. A. Pendergrass, D. Haas, M. Ritchie.

1730W   Fast and robust association testing for high-throughput testing. Y. H. Zhou, F. A. Wright.

1731T   A novel general framework for imaging genetics analysis with next-generation sequencing data. N. Lin, M. Chen, M. Xiong.

1732F   A Bayesian approach to expression quantitative trait loci mapping based on biological pathway knowledge. I. S. Chang, T. Y. Chen, C. H. Chen, C. A. Hsiung.

1733W   A novel exact test for association for small sample case-control studies. L. Ehwerhemuepha, S. Alexandria, C. Rakovski.

1734T   SNPx: Fast testing of SNPxSNP interactions using only summary statistic data. S. Bacanu, T. Bigdeli, D. Lee.

1735F   Efficient and powerful set tests using phenotype prediction. C. Lippert, C. Kadie, J. Listgarten, D. Heckerman.

1736W   Analyzing genome-wide associations with high dimensional phenotypes in the GALA II study. C. R. Gignoux, J. M. Galanter, K. A. Drake, H. Aschard, D. G. Torgerson, L. A. Roth, S. S. Oh, P. Kraft, C. D. Bustamante, N. A. Zaitlen, E. G. Burchard, GALA II Investigators.

1737T   A flexible association model for the analysis of multiple diseases, and its application to inflammatory bowel disease. L. Jostins, G. A. McVean, International IBD Genetics Consortium.

1738F   Association study of genetic polymorphisms of SLC5A11 and ISYNA1 gene with the risk of neural tube defects in a high-risk Chinese population. J. Guo, J. H. Wang, X. W. Wang, C. Ji, Z. Guan, Q. Xie, Z. Q. Zhu, B. Niu, T. Zhang.

1739W   Established susceptibility loci do not infer cognitive impairment as measured by TICS-M in multiple sclerosis patients. M. F. George, E. Elboudwarej, F. B. S. Briggs, H. Quach, R. Whitmer, L. Shen, A. Bernstein, C. Schaefer, L. F. Barcellos.

1740T   The role of rare genetic variants in host genetic control of anti-mycobacterial immunity. J. Manry, A. Cobat, E. Schurr.

1741F   The empirical assessment of statistical power of rare variant association methods. K. Hao, H. Chen, H. Zhou, C. Molony, H. Dai.

1742W   Enhanced ability to replicate findings as a rationale for conducting marker-set tests. J. Arbet, K. Grinde, C. Fu, A. Benitez, M. O'Connell, N. Tintle.

1743T   Maximizing the power in principal components analysis of correlated phenotypes. H. Aschard, B. Vilhjalmsson, C. Wu, N. Greliche, P. E. Morange, B. Wolpin, D. A. Tregouet, P. Kraft.

1744F   What now? Post-hoc approaches for gene-based, rare variant tests of association. A. Benitez, J. Arbet, K. Grinde, C. Fu, M. O'Connell, N. Tintle.

1745W   FARVAT: A fast and efficient rare variant association tool for dichotomous trait with extended families. S. Choi, S. Lee, M. M. Nöthen, C. Lange, T. Park, S. Won.

1746T   8q24 Risk alleles and prostate cancer in African-Barbadian men. C. D. Cropp, C. M. Robbins, A. J. M. Hennis, J. D. Carpten, L. Waterman, R. Worrell, J. M. Trent, M. C. Leske, S. Y. Wu, J. E. Bailey-Wilson, B. Nemesure.

1747F   Powerful methods for including genotype uncertainty in tests of Hardy-Weinberg equilibrium. C. Fu, M. O'Connell, A. Benitez, J. Arbet, K. Grinde, K. Liu, A. Luedtke, A. Beck, N. Tintle.

1748W   A clustering approach for mapping rare variants based on mutual association. S. Ghosh, S. Deb.

1749T   Evaluating the impact of genotype errors and uncertainty on gene-based rare variant tests of association. K. Grinde, C. Fu, J. Arbet, A. Benitez, M. O'Connell, N. Tintle.

1750F   Meta-analysis of gene-level associations for rare variants based on single-variant statistics. Y. J. Hu, S. I. Berndt, S. Gustafsson, A. Ganna, J. Hirschhorn, K. E. North, E. Ingelsson, D. Y. Lin, Genetic Investigation of ANthropometric Traits (GIANT) Consortium.

1751W   Recursive organizer: An analytic framework for sequence-based association analysis. X. Huang, L. P. Zhao.

1752T   Valid permutation tests for genetic case-control studies with missing genotypes. D. D. Kinnamon, E. R. Martin.

1753F   Heritability of gene expression variation. Z. Liu, J. Huang, W. Cookson, M. Moffatt, L. Liang.

1754W   On the simultaneous testing for large genomic regions: A clustering approach for rare variants . S. Lutz, C. Lange.

1755T   A kernel based multilocus genetic association test for longitudinal quantitative phenotype data. I. Mukhopadhyay, P. K. Mandal.

1756F   Adaptive approaches for combining multiple rare variant association tests provide improved power across a wider range of genetic architecture. M. O'Connell, A. Benitez, J. Arbet, K. Grinde, C. Fu, B. Greco, A. Hainline, N. Tintle.

1757W   Genome-wide association study of allergic rhinitis. C. Schaefer, J. Liu, L. Shen, T. Hoffmann, M. Kvale, Y. Banda, D. Ranatunga, N. Risch, J. Witte, E. Jorgenson.

1758T   Disentangling pooled triad genotypes for association studies. M. Shi, D. M. Umbach, C. R. Weinberg.

1759F   Meta-analysis of genome-wide association studies in myopia in nine populations. C. Simpson, R. Wojciechowski, V. Verhoeven, P. Hysi, M. Schache, X. Li, M. Hosseini, L. Portas, F. Murgia, K. Oexle, A. Paterson, V. Vitart, C. Hammond, P. N. Baird, M. Pirastu, J. Rotter, C. C. W. Klaver, T. Meitinger, D. Stambolian, J. E. Bailey-Wilson.

1760W   Identifying disease susceptibility variants using pleiotropy and independent genome-wide association studies. A. Skol.

1761T   An extrapolation approach for estimating genome-wide significance for whole genome sequencing studies and region-based tests. C. Xu, on behalf of UK10K Statistics Group.

1762F   Methods for association analysis and meta-analysis of rare variants in families. S. Feng, D. Liu, M. Zawistowski, X. Zhan, G. R. Abecasis.

1763W   Testing for differences between multiple groups in high-throughput sequencing data using Bayesian multi-scale Poisson models. H. Shim, E. Pantaleo, M. Stephens.

1764T   Detecting association of rare variants by testing an optimally weighted combination of variants for censored survival outcomes. X. Wang, X. Zhao.

1765F   Detecting association for low-frequency variants by the standardized linkage disequilibrium in case-control genome-wide screens. C. Xing, C.-Y. Lin, H.-C. Ku.

1766W   An optimal quasi-likelihood-based burden test for rare-variant association. X. Wu, H. Zhu, D. Liu.

1767T   An empirical validation of random effects and Bayesian meta-analysis models. R. Ahn, C. Garner.

1768F   Methods and tools for fast efficient mixed-models based whole-genome association analysis for large cohorts and multiple phenotypes. Y. Aulchenko.

1769W   PODKAT: A non-burden test for associating complex traits with rare and private variants. U. Bodenhofer, S. Hochreiter.

1770T   Model-based pathway enrichment analysis and prioritization of genetic variants in enriched pathways yields novel putative susceptibility loci for rheumatoid arthritis and type 1 diabetes. P. Carbonetto, M. Stephens.

1771F   Rapid linear mixed model methods for large-scale genome-wide association studies. W.-M. Chen, A. Manichaikul, S. S. Rich, M. Cushman, M. M. Sale.

1772W   An effective association testing procedure incorporating admixture mapping information. G. Gao, W. Chen.

1773T   Mixed model association statistic with correction for case-control ascertainment provides large increase in power. T. Hayeck, N. Zaitlen, B. Vilhjalmsson, S. Pollack, J. Yang, G. Chen, M. Goddard, P. Visscher, N. Patterson, A. Price.

1774F   Testing the spatial correlation of association signals from two genome scans. J. Hecker, D. Propopenko, P. Costa, E. Silverman, M. Naylor, S. Weiss, C. Lange, H. Loehlein Fier.

1775W   Variable selection for GWAS with linear mixed models yields improved power and control of type I error. D. Heckerman, O. Weissbrod, N. Fusi, C. Kadie, R. Davidson, C. Lippert, J. Listgarten.

1776T   Association studies of imputed genotypes using expectation-maximization likelihood-ratio test. K-C. Huang, Y. Li.

1777F   Bayesian sparse models of high-dimensional correlated traits in related and unrelated individuals. V. Iotchkova, J. O’Connell, A. Dahl, J. Marchini.

1778W   Effect size estimation in the stage of planning a replication study. C. Kuo, D. Zaykin.

1779T   Greater power for kernel-based tests using the likelihood ratio. J. Listgarten, J. Xiang, C. Kadie, D. Heckerman, C. Lippert.

1780F   Bayesian mixed model association statistics in linear time. P. Loh, N. Patterson, A. L. Price.

1781W   Near equivalent calibration and power of joint and meta-analysis for association analysis of quantitative traits. C. Ma, T. Blackwell, M. Boehnke, L. J. Scott, and the GoT2D investigators.

1782T   Estimating causal variant allele frequency, and thus efficacy of sequencing, at genetic loci identified by GWAS. P. F. O'Reilly, C. J. Hoggart.

1783F   Testing association without calling genotypes allows for systematic differences in read depth and sequencing error rate between cases and controls. G. A. Satten, H. R. Johnston, A. S. Allen, Y. J. Hu.

1784W   Meta-analysis of sequencing studies under random-effects models. Z. Tang, D. Lin.

1785T   A mixed model using both principal components and top markers corrects for population stratification and improves power. G. Tucker, B. Berger.

1786F   Use of P-values to evaluate the probability of a genuine finding in a large-scale genetic association studies. O. Vsevolozhskaya, C. L. Kuo, D. Zaykin.

1787W   A correction strategy for imputation across genotyping arrays. Y. Xie, J. Rice, L. Bierut, R. Culverhouse, N. Saccone, E. Johnson, D. Hancock, COGEND collaborators.

1788T   Testing genetic association at untyped rare variants, an alternative to imputation-based two-step approach. K. Ye.

1789F   The more you test, the more you find: Massive multiple testing does not promote spurious findings among top hits of association studies. D. V. Zaykin, C. L. Kuo, O. A. Vsevolozhskaya.

1790W   Efficient algorithms for multivariate linear mixed models in genome-wide association studies. X. Zhou, M. Stephens.

1791T   Combined association and admixture mapping in Latinos. A. Brisbin, A. Boyd, S. Rachid, G. Lei, A. C. Pereira, J. E. Krieger, M. de Andrade.

1792F   Detecting epistasis effects via sliced inverse modeling. J. S. Liu, B. Jiang, Y. Liu, M. Hu, C. Ye.

1793W   Admixed-MASTOR: Mixed-model association mapping of quantitative traits in genetically admixed samples with related individuals. T. Thornton, M. S. McPeek.

1794T   Detecting local haplotype sharing and haplotype-phenotype association. Y. Guan, H. Xu.

1795F   JEPEG: Software for testing the joint effect on phenotype of eQTLs in a gene. D. Lee, V. Williamson, T. Bigdeli, V. Vladimirov, S. Bacanu.

1796W   Detection boundary and higher criticism approach for rare and weak genetic effects. Z. Wu, Y. Sun, S. He, J. Cho, H. Zhao, J. Jin.

1797T   A novel method utilizing GWAS data identifies SNPs in the imprinted gene KCNK9 exhibiting parent-of origin effects on BMI. C. J. Hoggart, J. H. Zhao, J. Luan, F. Gomez, G. B. Ehret, M. Mangino, A. Teumer, N. Tšernikova, T. Winkler, W. Zhang, B. Benyamin, D. Evans, S. Vedantam, M. R. Jarvelin, A. Scherag, C. Rivolta, I. Borecki, J. Hirschhorn, R. Loos, T. Frayling, Z. Kutalik.

1798F   Genome-wide imputation in multiple cohorts to study susceptibility to sepsis in Europe. T. C. Mills, A. Rautanen, E. Davenport, P. Hutton, J. Knight, T. Meitinger, C. Garrard, F. Stueber, C. Hinds, A. V. S. Hill, GenOSept Investigators.

1799W   LD friends: A method to disentangle polygenicity from population stratification. B. K. Bulik-Sullivan, N. Patterson, A. Price, M. Daly, B. Neale.

1800T   Extended Mantel test for comparing differences in linkage disequilibrium between populations. N. Tanaka.

1801F   Bivariate joint phenotype-endophenotype measured genotype association testing in complex pedigrees. J. W. Kent, T. D. Dyer, M. Almeida, V. P. Diego, J. Blangero.

1802W   A multi-sample U-statistic for family-based association studies. M. Li, Z. He, D. Schaid, M. Cleves, T. Nick, Q. Lu.

1803T   Robust and powerful sibpair test for rare variant association. K. Lin, S. Zöllner.

1804F   Analysis of ultra high-dimensional data in imaging genetics studies. J. Kang, Y. J. Hu.

1805W   A general regression framework for a secondary outcome in case-control studies. E. Tchetgen Tchetgen.

1806T   Mining the human phenome using allelic scores that index biological intermediates. D. M. Evans, M. J. Brion, L. Paternoster, J. P. Kemp, G. McMahon, M. Munafo, N. J. Timpson, B. St. Pourcain, D. A. Lawlor, A. Dehghan, J. Hirschhorn, G. D. Smith.

1807F   Evolutionary triangulation: A novel approach for filtering association results. M. Huang, C. Amos, L. Muglia, S. Williams.

1808W   Detecting a weak association by testing its multiple perturbations. M. T. Lo, W. C. Lee.

1809T   A Bayesian approach to detect differentially methylated loci with next-generation sequencing using integrated nested Laplace approximation. L. Shuang, R. Podolsky, D. Ryu, V. George, H. Xu.

1810F   Methodology for mitochondrial phenome-wide association studies. J. Hall, W. Bush, S. Pendergrass, R. Goodloe, J. Boston, E. Farber-Eger, D. Crawford, S. Mitchell.

1811W   Mechanistic phenotypes: An aggregative phenotyping strategy to identify disease mechanisms using GWAS data. J. D. Mosley, S. L. Van Driest, E. K. Larkin, P. E. Weeke, J. S. Witte, Q. S. Wells, J. H. Karnes, L. Bastarache, L. M. Olson, C. A. McCarty, J. A. Pacheco, G. P. Jarvik, E. B. Larson, D. R. Crosslin, I. J. Kullo, G. Tromp, H. Kuivaniemi, D. J. Carey, M. D. Ritchie, R. Li, J. C. Denny, D. M. Roden.

1812T   Pathway-based analysis for GWAS using the extended propensity score method. U. Lee, S. J. Finch.

1813F   Accounting for gene-by-sex interactions in genome-wide association studies using random effects meta-analysis. N. Furlotte, E. Y. Kang, B. Han, J. W. Joo, E. Eskin.

1814W   Increasing the power of association: POPFAM combines arbitrary affected families, unrelated cases, controls, and reference samples. W. Stewart, M. Monti.

1815T   Modified random forest algorithms for analysis of matched case control data or case-parent trio data. Q. Li, J. Bailey-Wilson.

1816F   Exploiting network methodology for rare variant association analysis. H. Fier, J. Hecker, D. Prokopenko, P. Costa, S. Won, K. Ludwig, E. Silverman, M. Mattheisen, M. M. Noethen, E. Mangold, C. Lange.

1817W   Joint association analysis for family-based sequencing data using a family-genetic random field method. Z. He, M. Li, M. Zhang, X. Zhan, Q. Lu.

1818T   Simulation study for rare variants approaches in family-based and case-control data. C. Herold, H. Fier, J. Hecker, D. Prokopenko, C. Lange.

1819F   Finding co-regulated transcripts associated to cooperating eSNPs. A. Kreimer, I. Pe'er.

1820W   Genome-wide association detection power increased by observation of cis-acting mRNA. A. Renwick, J. W. Belmont, C. A. Shaw.

1821T   Is the tie-corrected Mann-Whitney-Wilcoxon test a promising alternative to the Cochran-Armitage test in the analysis of genetic association studies? S. Wellek.

1822F   Urinary monocyte chemoattractant protein-1 (MCP-1/CCL2) and its association with renal allograft rejection. A. Raza, S. Firasat, A. Abid, T. Aziz, M. Mubarak, S. A. A. Naqvi, S. A. H. Rizvi, S. Q. Mehdi, S. Khaliq.

1823W   A nonparametric Bayesian model for clustering time course gene expression profiles. D. Manandhar, B. Engelhardt.

1824T   Enrichment of functional information (545 annotation tracks) in GWAS hits. S. A. Gagliano, M. R. Barnes, M. Weale, J. Knight.

1825F   Use of complementary expression-based data provides improved gene-based prioritization of Crohn’s disease associated loci. K. Ning, K. Gettler, J. H. Cho, NIDDK Inflammatory Bowel Disease Genetics Consortium.

1826W   The PhenX Toolkit: Discovering and promoting opportunities for cross-study analyses. W. Huggins, H. Pan, D. M. Nettles, E. Eubanks, T. Hendershot, J. G. Pratt, D. Maiese, W. R. Harlan, J. Haines, H. A. Junkins, E. M. Ramos, C. M. Hamilton.

1827T   Kernel machine methods for joint testing and integrative analysis of genome-wide methylation and genotyping studies. N. Zhao, M. Wu.

1828F   Integrating multiple correlated phenotypes for genetic association analysis through heritability. J. Zhou, M. Cho, E. Silverman, N. Laird.

1829W   Analyses assessing enrichment of GWAS variants for non-coding annotations in the genome are upwardly biased. G. Trynka, B. Han, K. Slowikowski, H. Xu, X. S. Liu, S. Raychaudhuri.

1830T   dbVÖR: An open source database system for managing phenotype and genotype information for complex trait studies. R. V. Baron, Y. P. Conley, M. B. Gorin, D. E. Weeks.

1831F   Mega2: Enhanced data-handling for facilitating genetic linkage and association analyses. C. P. Kollar, R. V. Baron, N. Mukhopadhyay, D. E. Weeks.

1832W   The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging:: Machine learning techniques for quality control for 100,000 subjects genotyped on the Affymetrix® Axiom® system. M. Kvale, S. Hesselson, T. Hoffmann, D. K. Ranatunga, J. Gollub, T. Webster, Y. Zhan, Y. Lu, G. Mei, L. Walter, D. Ludwig, B. Dispensa, C. Schaefer, P. Y. Kwok, N. Risch.

1833T   FBAP: A pipeline for family-based quality control of pedigree structures and dense genetic marker data. A. Q. Nato, N. H. Chapman, C. Y. K. Cheung, Z. Brkanac, E. M. Wijsman.

1834F   Comparing a few SNP calling algorithms using low-coverage sequencing data. X. Yu, S. Sun.

1835W   Influence of low level contamination on variant calling and filtration of NGS data and its quality control. H. Ling, K. Hetrick, E. Pugh, J. Romm, K. Doheny.

1836T   Handling high-dimensional genetics data using multilevel dimensionality reduction algorithms in genetic association studies. K. Cho, D. R. Gagnon, H. Wu.

1837F   Genotype imputation in the era of next-generation sequencing. G. Pistis, E. Porcu, C. Sidore, F. Danjou, M. Steri, A. Mulas, M. Zoledziewska, F. Busonero, F. Reinier, R. Atzeni, M. Lobina, R. Pilu, M. Marcelli, B. Tarrier, H. M. Kang, A. Angius, C. M. Jones, D. Schlessinger, F. Cucca, G. Abecasis, S. Sanna.

1838W   Impact of quality control on the heritability analyses for qualitative traits. J. Liu, T. Hoffmann, E. Jorgenson, J. Witte.

1839T   Visualization software for the efficient review of alternate genotype calls. Z. Xu, N. Pankratz.

1840F   PhenoMan: Phenotypic data exploration, selection, management and quality control for association studies of rare and common variants. B. Li, G. Wang, S. M. Leal.

1841W   Forensic inference via a Genome Parade. Y. Chen, R. Xia, F. A. San Lucas, S. Vattathil, P. Scheet.

1842T   Discovery and replication of genetic interactions for quantitative lipid traits. E. R. Holzinger, M. Farrall, F. Drenos, C. B. Moore, I. B. C. Lipid Working Group, S. Setia, H. Watkins, F. W. Asselbergs, B. J. Keating, M. D. Ritchie.

1843F   Association analysis of gene-environment interactions in lipid profile using exome sequence data. Z. He, G. Wang, S. Leal.

1844W   Meta-analysis identifies gene-by-environment interactions as demonstrated in a study of 4,965 mice. E. Kang, B. Han, N. Furlotte, J. Joo, D. Shih, R. Davis, A. Lusis, E. Eskin.

1845T   GMDR: A conceptual framework for detection of multifactor interactions underlying complex traits. X. Lou.

1846F   Novel statistical framework for gene-environment interaction. A. R. Stefanescu, X. Wen.

1847W   Accounting for population structure in gene-by-environment interactions in genome-wide association studies using mixed models. J. Sul, W. Yang, E. Kostem, N. Furlotte, D. He, E. Eskin.

1848T   Improved detection of variants with main or interaction effects using a robust location-scale testing framework. D. Soave, A. D. Paterson, L. J. Strug, L. Sun.

1849F   Improved detection of genetic exposures with unspecified effect modifiers. T. L. Edwards, C. Li.

1850W   Genome-wide interaction study of dengue shock syndrome. L. Grange, J. F. Bureau, S. Sakuntabhai.

1851T   Gene-gene interaction detection using a two-stage model. Z. Wang, J. Sul, S. Snir, J. Lozano, E. Eskin.

1852F   Long range phasing using consistency graphs of identity by descent. I. Pe'er, H. R. Shokri, P. F. Palamara.

1853W   The relationship between common environmental and genetic effects on human gene splicing and expression. A. Battle, D. Knowles, S. Mostafavi, X. Zhu, J. B. Potash, M. M. Weissman, C. McCormick, C. D. Haudenschild, K. B. Beckman, J. Shi, R. Mei, A. E. Urban, D. F. Levinson, D. Koller, S. B. Montgomery.

1854T   Within-gene interactions in GWAS identifies novel susceptibility loci: The WTCCC data revisited. N. Sharaf Eldin, Q. Liu, S. Jabbari, L. Wang, C. Franco-Villalobos, S. Mahasirimongkol, H. Yanai, L. J. Martin, K. Tokunaga, Y. Yasui.

1855F   Applications of hidden Markov models with conditional emission probabilities to identify regions of identity-by-descent in whole exome sequencing data. M. Kimmel, S. Hicks, S. E. Plon.

1856W   Cryptic relatedness in epidemiologic collections accessed for genetic association studies. J. Malinowski, R. Goodloe, K. Brown-Gentry, D. C. Crawford.

1857T   IBDLD-3: A fast and parallelized software package for IBD estimation from genomic data. L. Han, M. Abney.

1858F   Combinatorial conflicting homozygosity enables the rapid identification of genetic linkage in the presence of multiple phenocopies. A. P. Levine, T. M. Connor, D. D. Oygar, G. H. Neild, P. H. Maxwell, A. W. Segal, D. P. Gale.

1859W   Investigating the importance of disparate genetic influences across African and European descent populations. T. de Candia, M. C. Keller.

1860T   Employing identity by descent to inform rare variation in gene-based tests. D. S. Park, C. Gignoux, L. Fejerman, D. G. Torgerson, D. Hu, S. Huntsman, C. S. Eng, E. G. Burchard, E. Ziv, N. Zaitlen.

1861F   Computationally-efficient long-range phasing with very large datasets. M. J. Barber, R. E. Curtis, K. Noto, Y. Wang, J. M. Granka, N. M. Myres, J. K. Byrnes, C. A. Ball, K. G. Chahine.

1862W   IBD mapping of autism microarray data. G. Povysil, S. Hochreiter.

1863T   Individual perspective measures of population structure. X. Zheng, B. Weir.

1864F   Model-free estimation of IBD sharing probabilities in admixed populations. M. Conomos.

1865W   Homozygosity mapping combined with linkage analysis in human families in the age of high-density DNA variants. J. Ott, Y. Li, E. Engle, S. Shaaban.

1866T   A statistical approach for variant calling using pedigree information and phase informative reads. K. Kojima, N. Nariai, T. Mimori, M. Takahashi, Y. Yamaguchi-Kabata, Y. Sato, M. Nagasaki.

1867F   Mathematical model explains gender differences in intelligence by variation in mating preferences. M. Nagel.

1868W   Accounting for model structure uncertainty when predicting intervention effects from observational data. M. Rantalainen, C. C. Holmes.

1869T   A variance-component based approach to pathway analysis in expression data. E. E. Quillen, V. P. Diego, E. Drigalenko, M. P. Johnson, J. W. MacCluer, T. D. Dyer, E. K. Moses, M. C. Mahaney, J. E. Curran, H. H. H. Göring, L. Almasy, J. Blangero.

1870F   Genetic pathways enriched with type 1 diabetes suggest novel causal genes for type 1 diabetes. M. Evangelou, D. J. Smith, O. S. Burren, N. M. Walker, J. A. Todd, C. Wallace.

1871W   A powerful statistical method for genetic pathway analysis. N. Liu, Q. Yan, N. Yi.

1872T   A supervised dimension reduction approach for pathway-based analysis in genome-wide association study. Z. Wei, J. Li, W. Wang, H. Hakonarson.

1873F   Rank-based analysis of transcriptome data reveals biologically relevant atopic dermatitis genes and pathways. T. B. Mersha, D. Ghosh, G. K. Hershey, J. A. Bernstein.

1874W   Novel top down dissection of complex traits based on germline signatures. H. K. Im, N. J. Cox.

1875T   A systems biology approach to identify and prioritize sub-networks of functionally related genes for Alzheimer’s disease and subsequent in vivo validation of candidate genes using a C. elegans model of Aβ toxicity. S. Mukherjee, M. Kaeberlein, J. Kauwe, A. Naj, P. Crane, Alzheimer's Disease Genetics Consortium.

1876F   Hierarchical learning of regulatory networks from RNA-sequencing of 35 human tissues. E. Pierson, S. Mostafavi, A. Battle, D. Koller, GTEx Consortium.

1877W   Seasonal changes in gene expression represent cell type composition in whole blood. M. Neeleman, S. de Jong, J. J. Luykx, M. J. ten Berg, E. Strengman, H. H. ten Breeijen, L. C. Stijvers, J. E. Buizer-Voskamp, S. C. Bakker, R. S. Kahn, S. Horvath, W. W. van Solinge, R. A. Ophoff.

1878T   Imputation performance of ~4,000 genomes from the UK10K project. J. Huang, B. Howie, J. Marchini, on behalf of UK10K Cohorts Consortium.

1879F   Next-generation sequencing and its application in clinical practice. E. Klee, P. A. Decker, N. Jia, S. K. McDonnell, S. N. Thibodeau, M. de Andrade.

1880W   A weighted U statistic for genetic association analyses of sequencing data. C. Wei, M. Li, Z. He, Q. Lu.

1881T   Accurate genotype calling with contaminated sequencing data. M. Flickinger, G. Jun, G. R. Abecasis, M. Boehnke, H. M. Kang.

1882F   A rare variant selection algorithm to locate susceptible rare variant from sequencing data. S. Wang, H. Sun.

1883W   Functional linear model with both functional response and functional predictors for genetic studies of temporal quantitative trait with both GWAS and next-generation sequencing data. D.-Y. Lee, C. Hanis, M. Xiong.

1884T   Weighted combination of truncated P-values for rare causal variants detection. W. Y. Lin, X. Y. Lou, G. Gao, N. Liu.

1885F   Detecting genomic clustering of risk variants from sequence data: Cases vs. controls. J. P. Sinnwell, D. . Schaid, S. K. McDonnell, S. N. Thibodeau.

1886W   GEE-based kernel association test in family based sequencing studies. X. Wang, S. Lee, T. Cai, T. W. Yu, C. A. Walsh, X. Lin.

1887T   Comparisons of the power functions and asymptotic relative efficiencies of empirical genetic relationship kernels in heritability and association testing. V. P. Diego, M. Almeida, J. Peralta, T. D. Dyer, J. W. Kent, Jr., J. T. Williams, L. Almasy, H. H. H. Göring, R. Duggirala, J. Blangero.

1888F   A DNA variant caller adapted to assess mitochondrial DNA variation in lymphocytes from 2,000 Sardinians. J. Ding, C. Sidore, O. Meirelles, M. K. Wing, F. Busonero, R. Nagaraja, F. Cucca, G. R. Abecasis, D. Schlessinger.

1889W   Understanding the limits of pooled next-generation sequencing to identify causal modifier variants in cystic fibrosis. J. Gong, F. Lin, T. Chiang, K. Keenan, M. Miller, D. Soave, W. Li, L. Sun, J. Rommens, L. Strug.

1890T   Accurate local ancestry inference in exome sequenced admixed individuals using off target sequence reads. Y. Hu, C. Willer, X. Zhan, H. Kang, G. Abecasis.

1891F   Flexible and robust methods for rare-variant testing of quantitative traits in pedigrees. Y. Jiang, K. N. Conneely, M. P. Epstein.

1892W   Study designs for next-generation sequencing: Some empirical evidence. P. Marjoram, D. G. Conti, M. Salomon, D. C. Thomas.

1893T   Are base qualities necessary in the context of high coverage sequencing? M. W. Snyder, J. Shendure.

1894F   A unified sequence kernel association test allowing for admixed subjects with arbitrary relatedness. W. Ouyang, H. Deng, H. Qin.

1895W   Phasing and imputation of 12,000 1x coverage whole genome sequenced Chinese women. W. Kretzschmar, J. Flint, J. Marchini, CONVERGE Consortium.

1896T   Construction of an accurate haplotype reference panel that incorporates multi-allelic variants from sequencing data. A. Menelaou, S. L. Pulit, L. C. Francioli, J. Marchini, P. I. W. de Bakker, Genome of the Netherlands Consortium.

1897F   Modeling gene expression and rare sequence variation to identify genes and subnetworks underlying autism risk. L. Liu, J. Lei, S. Sanders, J. Willsey, Y. Kou, L. Klei, C. Lu, X. He, A. Ma'ayan, J. Noonan, N. Sestan, J. Buxbaum, M. State, B. Devlin, K. Roeder.

1898W   Gene-based generalized functional linear models for case-control association studies. R. Fan, Y. Wang, L. Lobach.

1899T   Functional linear models for association analysis of quantitative traits. Y. Wang, R. Fan, J. L. Mills, A. F. Wilson, J. E. Bailey-Wilson, M. M. Xiong.

1900F   Pooled whole exome sequencing as a strategy for establishing population mutation profiles. E. Rinella, K. Upadhyay, C. Oddoux, H. Ostrer.

1901W   A hidden Markov random field approach to modeling genetic association based on graphs derived from gene expression. J. Lei, L. Liu, B. Devlin, K. Roeder.

1902T   A new statistical method for identifying differentially methylated regions in complex diseases. P. Liu, C. Chen, X. Hua, Y. Lu, M. Liang.

1903F   A nonparametric model for haplotypes in population bottlenecks. L. T. Elliott, Y. W. Teh.

1904W   Using network methodology to infer population substructure. D. Prokopenko, C. Lange, J. Hecker, P. Costa, E. K. Silverman, H. Loehlein Fier.

1905T   eqtl-tools: A toolset for scalable eQTL mapping. A. Di Narzo, K. Hao.

1906F   Trans-ethnic fine mapping of cis eQTLs across eight ancestry groups. C. Grace, J. C. Whittaker, J. Huxley-Jones, A. P. Morris.

1907W   Statistical methods for the analysis of gene expression in single-family studies for genetic and complex disease. S. Merella, P. Brambilla, F. Martinelli Bonesch, E. Stupka, P. Provero.

1908T   Probabilistic phase concordance for enhanced detection of somatic allelic imbalance. C. M. Hahn, S. Vattathil, P. Scheet.

1909F   Conducting large-scale imputation studies on the Cloud. S. Buyske, K. Vahi, E. Deelman, U. Peters, T. C. Matise.

1910W   SKAT admix: Extending the SKAT method for rare variant association to admixed populations. A. E. Byrnes, M. C. Wu, M. Li, Y. Li.

1911T   The visualization of probabilistic results from consumer genetic testing for ethnicity at AncestryDNA. R. E. Curtis, K. H. Freestone, M. J. Barber, J. M. Callaway, K. Noto, Y. Wang, C. A. Ball, K. G. Chahine.

1912F   Next generation of genotype imputation methods. S. Das, G. R. Abecasis.

1913W   SECA: SNP Effect Concordance Analysis using genome-wide association summary results. D. Nyholt.

1914T   Testing Hardy-Weinberg equilibrium of multi-allelic markers: Computational R code for implementing MCMC algorithm via a Markov base. M. Rao, S. Venkatesan.

1915F   Relative performance and application of gene- and pathway-level methods for genome-wide association studies. G. L. Wojcik, W. H. Kao, P. Duggal.

1916W   Using GenTrain and zCall to identify problematic SNPs in rare variant genotype calling. J. Romm, I. McMullen, M. Jewell, J. Zhang, E. Pugh, K. F. Doheny.

1917T   Accurate and rapid genetic analysis of genomic data under mixed model with multiple variance components. H. M. Kang, S. Yang.

1918F   Detecting genetic heterogeneity in complex diseases with a weighted U statistic. Q. Lu, C. Wei, R. C. Elston.

1919W   Efficient and accurate population-scale KIR typing from SNP chip data. S. Leslie, D. Vukcevic, J. Traherne, S. Naess, M. Lathrop, T. H. Karlsen, M. Moffatt, W. Cookson, J. Trowsdale, G. McVean, S. Sawcer.

1920T   PSEUDOMARKER 2.0: Efficient computation of likelihoods using NOMAD. A. Schaffer, E. M. Gertz, T. Hiekkalinna, S. Le Digabel, C. Audet, J. D. Terwilliger.

1921F   MMAP: A comprehensive mixed model program for analysis of pedigree and population data. J. O'Connell.

1922W   SALAD: A software suite for admixture linkage analysis and discovery. R. Johnson, G. Nelson, C. Winkler.

1923T   Local ancestry inference for whole genome sequence data. B. Maples, S. Gravel, E. Kenny, C. Bustamante.

1924F   Estimating sample size and power for nested cohort studies. R. Hoffmann.

1925W   Impact of measurement error on testing genetic association with quantitative traits. J. Liao, X. Li, T. Y. Wong, J. J. Wang, C. C. Khor, E. S. Tai, T. Aung, Y. Y. Teo, C. Y. Cheng.

1926T   Slicing the genome: A new approach to association in complex, longitudinal diseases. A. Musolf, D. Londono, A. Q. Nato, Jr., P. Vuistiner, C. A. Wise, L. Yu, S. J. Finch, P. Bovet, M. Bochud, T. C. Matise, D. Gordon.

1927F   Use of electronic medical records to measure phenotypic heritability. S. Hebbring, Z. Ye, M. He, J. Mayer, S. Schrodi, M. Brilliant.

1928W   Optimal strategies for identifying disease associated singletons. S. Rashkin, G. Jun, G. Abecasis.

1929T   Response dependent sampling designs and analysis in studies with rare variants. L. Sun, A. Derkach, J. F. Lawless.

1930F   Quantitative-trait-dependent sampling designs for genetic association analysis of a rare variant score. Y. E. Yilmaz, J. F. Lawless, S. B. Bull.

1931W   Caveats of extreme sampling strategies for resequencing studies. H. Qin, W. Ouywang, S. Cao, T. Yang, Y.-P. Wang, H.-W. Deng.

1932T   Identifying potential cancer vaccine targets with high-throughput sequencing. E. Aronesty, K. Robasky, W. D. Jones.

1933F   A dynamic model for classification of gene regulation with RNA-seq data. L. Li, M. Xiong.

1934W   Telomere length in circulating leukocytes is associated with lung function and disease. E. Albrecht, E. Sillanpää, S. Karrasch, A. Couto Alves, V. Codd, I. Hovatta, J. L. Buxton, S. Hägg, M. Mangino, G. Willemsen, K. H. Pietiläinen, C. P. Nelson, L. Broer, M. A. R. Ferreira, I. Surakka, C. Gieger, N. G. Martin, N. L. Pedersen, D. I. Broomsma, T. D. Spector, C. M. van Duijn, J. Kaprio, N. J. Samani, M. R. Jarvelin, H. Schulz.

1935T   How much does family history information add to other risk factors when predicting a patient’s risk of colorectal cancer? L. Jonah, B. K. Potter, J. Little, J. C. Carroll, Q. Hasanaj, J. Allanson, D. Castle, B. J. Wilson, CIHR Emerging Team in Genomics in Screening.

1936F   Population-based study of permanent teeth agenesis in Japanese. J. Machida, T. Nishiyama, S. Yamaguchi, M. Kimura, A. Shibata, T. Tatematsu, Y. Abe, S. Makino, H. Miyachi, K. Shimozato, Y. Tokita.

1937W   Population Architecture using Genomics and Epidemiology (PAGE): The association of trans-ethnic genetic variation with glucose and insulin levels in PAGE. S. A. Rosse, C. S. Carlson, D. Crawford, J. Haessler, C. A. Haiman, T. Matise, K. E. North, J. Pankow, N. Pankratz, U. Peters, A. Young, C. Kooperberg.

1938T   Estimating genetic correlations between traits from summary statistics. H. K. Finucane, S. Lindstrom, A. L. Price.

1939F   Derivation of a genome-wide significance threshold for African populations. M. D. Fortune, I. Tachmazidou, E. Zeggini.

1940W   Mediating genetic effects using twin data. A. Ulgen, W. Li, J. Hjelmborg.

1941T   Detecting recent coevolution through ancestry association on different chromosomes in African Americans. H. Wang, Y. Choi, X. Wang, B. Tayo, U. Brockel, C. Hanis, S. Kardia, S. Redline, R. Cooper, N. Risch, H. Tang, X. Zhu.

1942F   Investigating bias due to population stratification in pharmacogenetic studies. X. Chen, C. Molony, C. Zhang, H. Zhou.


Evolutionary and Population Genetics

 

1943W   Validation of an ancestry estimation analysis method using a comparison of FRAPPE and STRUCTURE. J. J. Bryan, K. Tang, R. Kittles, C. L. Mouritsen.

1944T   Geographic population structure of worldwide human populations infers biogeographical origin down to home village. E. Elhaik, T. Tatarinova, D. Chebotarev, I. S. Piras, C. M. Calň, A. D. Montis, M. Atzori, M. Marini, S. Tofanelli, P. Francalacci, L. Pagani, C. Tyler-Smith, Y. Xue, G. Cucca, T. G. Schurr, J. B. Gaieski, C. Melendez, M. G. Vilar, R. Gomez, R. Fujita, F. R. Santos, D. Comas, O. Balanovsky, P. Zalloua, H. Soodyall, R. Pitchappan, A. GaneshPrasad, M. Hammer, L. Matisoo-Smith, S. R. Wells.

1945F   AdmixKJump: Identifying population structure in recently diverged groups. T. O'Connor.

1946W   Distribution of genetic ancestry and candidate disease allele frequencies in Puerto Rico. Y. Afanador, I. Rivera, W. Guiblet, LGDS Consortium, M. Yeager, V. Washington, J. C. Martinez-Cruzado, T. Oleksyk.

1947T   Allelic frequency determination of asthma-related single nucleotide polymorphisms and the relation of genetic admixture in asthma disease prevalence among Puerto Ricans. I. Rivera, Y. Afanador, C. Garcia, W. Guiblet, E. Suárez, J. C. Martinez-Cruzado, T. K. Oleksyk, Local Genome Diversity Studies.

1948F   Evidence for interaction of population-specific EFHC1 alleles with genetic ancestry in juvenile myoclonic epilepsy. R. L. Subaran, J. M. Conte, W. C. L. Sterart, D. A. G. Greenberg.

1949W   Genomic scans for haplotypes of Denisova and Neanderthal ancestry in modern human populations. F. L. Mendez, M. F. Hammer.

1950T   Admixture estimation in a founder population. Y. Banda, M. Kvale, T. Hoffmann, S. Hesselson, H. Tang, D. Ranatunga, L. Walter, C. Schaefer, P. Kwok, N. Risch.

1951F   Using a haplotype-based model to infer Native American colonization history. C. Lewis, D. Balding, S. Myers, G. Busby, C. Capelli, D. Falush, A. Ruiz-Linares, G. Hellenthal.

1952W   Diversity of the Mexican Mestizo population using 18 X-STR. E. Ortiz, G. Noris, C. Santana, M. A. Meraz, R. Gómez.

1953T   Native American, European and African ancestry from genotype by sequencing in Argentinean populations. M. Muzzio, J. M. B. Motti, T. Cooke, L. S. Jurado-Medina, M. C. Yee, A. Adams, J. Beltramo, R. Santos, V. Ramallo, M. Schawb, O. Cornejo, G. Bailliet, E. E. Kenny, C. M. Bravi, C. D. Bustamante.

1954F   The genetics of craniofacial morphometry in Latin America. K. Adhikari, A. Ruiz-Linares.

1955W   The centenarians of Nicoya, Costa Rica: A genomic evolutionary approach. J. Azofeifa, E. A. Ruiz-Narvaez, A. Leal, L. Rosero-Bixby.

1956T   Population structure and genetic diversity in a population of 15,000 patients from East Harlem, NY. G. Belbin, D. Ruderfer, E. A. Stahl, J. Jeff, Y. Lu, R. J. F. Loos, O. Gottesman, S. Purcell, E. Bottinger, E. E. Kenny.

1957F   Ultra fast and sample-aware local ancestry inference using population-specific variants. R. P. Brown, B. Pasaniuc.

1958W   Y chromosomes in surname samples: Insights into surname frequency and origin. F. Calafell, N. Solé-Morata, J. Bertranpetit, D. Comas.

1959T   The population genetics of sub-Saharan African populations. M. Capredon, J. Hussin, J. Quinlan, Y. Idaghdour, T. de Malliard, J. C. Grenier, V. Bruat, E. Gbeha, L. Barreiro, P. Awadalla.

1960F   A scalable and effective local ancestry deconvolution algorithm for Latinos. G. Genovese, A. L. Williams, S. A. McCarroll.

1961W   A two-sex model for the admixture history of a hybrid population: the X-chromosome. A. Goldberg, P. Verdu, N. A. Rosenberg.

1962T   Is genetic ancestry associated with sleep? I. Halder, M. Hall, D. Buysse, S. E. Reis, K. Matthews.

1963F   Evidence of social marginalisation leading to strong genetic differentiation among the Ari of Ethiopia. G. Hellenthal, L. van Dorp, S. Myers, L. Pagani, C. Tyler-Smith, E. Bekele, A. Tarekegn, M. Thomas, N. Bradman, D. Balding.

1964W   Pinpointing the Indian origin and revealing the Caucasus chapter in the genetic ancestry of the European Roma. M. Karmin, M. Baldovič, N. Jeran, M. Reidla, S. Cvjetan, S. Rootsi, T. Šaric, J. Šarac, M. Cenanovic, T. Haller, A. Raidvee, R. Mägi, A. Leskovac, L. Kovacevic, D. Marjanovic, H. D. Auguštin, N. Novokmet, A. Ficek, G. Chaubey, P. Rudan, V. Ferak, E. Metspalu, M. D. M. Behar, M. Metspalu, R. Villems.

1965T   Reconstructing Austronesian population history. M. Lipson, P.-R. Loh, N. Patterson, P. Moorjani, Y.-C. Ko, M. Stoneking, B. Berger, D. Reich.

1966F   Patterns of genetic variation in populations of African ancestry observed in whole genome sequencing of 691 individuals from CAAPA. R. Mathias, L. Huang, T. D. O'Connor, C. Vergara, M. Taub, A. Deshpande, C. R. Gignoux, N. Rafaels, S. Shringarpure, R. Torres, J. Galanter, R. Hernandez, E. E. Kenny, D. Locke, W. Grus, K. Gietzen, I. Ruczinski, K. C. Barnes, CAAPA Consortium.

1967W   Correlation of Native American ancestry with body mass index in an admixed community. T. M. Norden-Krichmar, I. R. Gizer, O. Libiger, K. C. Wilhelmsen, C. L. Ehlers, N. J. Schork.

1968T   Deep coverage Bedouin genomes reveal Bedouin haplotypes shared among worldwide populations in the 1000 Genomes Project. J. L. Rodriguez-Flores, K. Fakhro, F. Agosto-Perez, A. Robay, R. G. Crystal, J. G. Mezey.

1969F   Fossil free sequencing of archaic hominin metagenomes. B. Vernot, J. M. Akey.

1970W   No indication of Khazar genetic ancestry among Ashkenazi Jews. M. Metspalu, D. M. Behar, Y. Baran, S. Rosset, N. Kopelman, B. Yunusbayev, A. Gladstein, M. F. Hammer, S. Tzur, E. Halperin, K. Skorecki, R. Villems, N. A. Rosenberg.

1971T   The Brazilian EPIGEN Initiative: Admixture, history and epidemiology at high resolution. A. C. Pereira, M. L. Barreto, B. L. Horta, M. F. Lima-Costa, A. Horimoto, N. Esteban, F. S. G. Kehdy, W. C. S. Magalhăes, M. R. Rodrigues, M. Gouveia, M. Machado, R. Moreira, J. M. Sanches, H. Santos, F. Soares, G. B. Soares-Souza, T. Muniz, H. Sant'Anna, E. Tarazona-Santos, Brazilian EPIGEN Consortium.

1972F   The genetic structure and admixture analysis of Brazilian populations: The Brazilian EPIGEN Initiative. H. C. Santos, A. Horimoto, A. C. Pereira, E. Tarazona-Santos, M. L. Barreto, B. L. Horta, M. F. Lima-Costa, M. Gouveia, M. Machado, F. Soares, T. M. Silva, J. M. Sanches, N. Esteban, W. C. S. Magalhaes, M. R. Rodrigues, F. S. G. Kehdy, Brazilian EPIGEN Consortium.

1973W   Population stratification detection and correction in rare variant collapsing methods using principal component analysis. J. R. Wallace, C. B. Moore, A. T. Frase, M. D. Ritchie.

1974T   Surveying European and West African population structure using >2,300 samples with spatial information. Y. Wang, K. Noto, J. B. Byrnes, R. E. Curtis, N. M. Myres, M. J. Barber, J. M. Granka, C. A. Ball, K. G. Chahine.

1975F   Using evolutionary profiles to better-inform model organism selection for human disease research. A. D. Baxevanis, E. K. Maxwell, C. E. Schnitzler, A. D. Nguyen, R. T. Moreland.

1976W   A model-based analysis of GC-biased gene conversion in the human and chimpanzee genomes. J. A. Capra, M. J. Hubisz, D. Kostka, K. S. Pollard, A. Siepel.

1977T   Conserved combinatorial transcription factor binding identifies regulatory variants in human disease pathways. M. D. Wilson, B. Ballester, A. Medina-Rivera, D. Schmidt, M. Gonzŕlez-Porta, M. Carlucci, K. N. Chessman, A. Faure, A. Funnell, A. Goncalves, C. Kutter, M. Lukk, S. Menon, W. M. McLaren, K. Stefflova, S. Watt, M. Crossley, J. C. Marioni, D. T. Odom, P. Flicek.

1978F   Functional characterization of Toll-like receptor signaling pathways in primates. J. F. Brinkworth, J. N. Kohn, J. Boulais, J. C. Grenier, R. E. Lanford, Z. P. Johnson, L. B. Barreiro.

1979W   Accelerated evolution of primate-specific microRNAs in the human genome. M. Lopez-Valenzuela, N. Petit-Marty, A. Navarro, Y. Espinosa-Parrilla.

1980T   Addiction drugs cluster functionally in the genome with concomitant variation in human populations. L. Jackson, Y. Liu, A. Tozeren.

1981F   Critical assessment of coalescent DNA simulators in modeling recombination hotspots. T. Yang, H. W. Deng, T. Niu.

1982W   The genome-wide distribution of gene conversion, cross-overs, and de novo mutations events in Western chimpanzees. O. Venn, I. Turner, I. Mathieson, N. de Groot, G. McVean.

1983T   Moving backwards in time from present-day sequences: The paradox of sequential founder events. M. Jeanpierre.

1984F   Effective population size — Recombination, gene conversion and linkage disequilibrium. D. Labuda, J. F. Lefebvre, C. Moreau.

1985W   Analysis of linkage disequilibrium associated with Southeast Asian ovalocytosis. M. K. Thompson, J. A. Wilder.

1986T   Meiotic gene conversion in humans: Rate, sex ratio and GC bias. A. L. Williams, G. Genovese, T. Dyer, N. Patterson, J. Blangero, D. Reich, T2D-GENES Consortium.

1987F   Linkage disequilibrium and haplotype blocks determined by the analysis of 250K SNPs in three quilombo remnants communities. E. S. Andrade, D. M. Salvanha, R. Z. N. Vęncio, L. M. Garrido, H. Krieger, A. L. Simőes, C. T. Mendes-Junior.

1988W   A recombination map of Latino populations inferred using local ancestry. S. Shringarpure, S. Gravel, C. Gignoux, A. Moreno, C. Eng, S. Huntsman, D. Torgerson, E. Burchard, C. Bustamante.

1989T   De novo genes in evolution: Apcdd, a novel dual Wnt and Bmp inhibitor. V. Luria, S. G. Oh, A. H. O'Donnell, A. M. Christiano.

1990F   Detecting evolutionary strata on the human X chromosome in the absence of gametologous Y-linked sequences. M. Wilson Sayres, R. Shanker Pandey, R. Azad.

1991W   NANOGP8: Evolution of a human-specific cancer-promoting retrogene. D. J. Fairbanks, T. H. Ogden, A. D. Fairbanks, G. J. Parker, P. J. Maughan.

1992T   Characterizing bias in population genetic inferences from uncertain genotype data. E. Han, J. Sinsheimer, J. Novembre.

1993F   The evolutionary impact of GC-biased gene conversion on human populations. J. Lachance, S. Tishkoff.

1994W   Characterization and evolution of LAVA elements in gibbons. M. K. Konkel, J. A. Walker, B. Ullmer, T. J. Meyer, A. Damert, R. Hubley, A. F. A. Smit, L. Carbone, M. A. Batzer, for Gibbon Genome Sequencing and Analysis Consortium.

1995T   Genetic architecture of variants affecting splicing in human populations. Y. Lee, E. Gamazon, H. Im, W. Hernandez, N. Cox.

1996F   From mouse to human: Evolutionary genomics analysis of human orthologs of essential genes. B. Georgi, B. F. Voight, M. Bucan.

1997W   Exploring the relationship between immune system related genetic variants and complex traits and disease through a phenome-wide association study. A. Verma, H. Kuivaniemi, G. Tromp, D. J. Carey, G. S. Gerhard, J. E. Crowe Jr., M. D. Ritchie, S. A. Pendergrass.

1998T   Bayesian co-estimation of selfing rate and locus-specific mutation rates for a partially selfing population. B. D. Redelings, M. K. Uyenoyama.

1999F   Geographic structure of an allele associated with blond hair color in western Island Melanesia. H. Norton, E. Correa.

2000W   Test of synergistic interactions among deleterious alleles in humans. M. Sohail, A. Kondrashov, P. I. W. de Bakker, S. Sunyaev, GoNL Consortium.

2001T   Genetic diversity is a predictor of survival in humans. N. A. Bihlmeyer, A. Scaria, M. Nalls, M. Garcia, K. L. Lunetta, J. M. Murabito, D. R. Weir, J. A. Smith, G. Davies, M. Allerhand, L. Yu, D. A. Bennett, S. S. Mirza, N. Direck, A. Teumer, G. Homuth, A. V. Smith, V. Gudnason, T. Lumley, D. E. Arking, on behalf of CHARGE Aging & Longevity Working Group.

2002F   A study on genetic diversity of ADME genes in ethnic groups in Northwestern China. J. Li, S. Xu.

2003W   Diversity of lactase persistence alleles in Ethiopia: Signature of a soft selective sweep. D. M. Swallow, B. L. Jones, T. O. Raga, A. Liebert, P. Zmarz, E. Bekele, E. T. Danielson, A. K. Olsen, N. Bradman, J. T. Troelsen.

2004T   Characterization of private and highly diverged variants among human populations from the analysis of exome sequencing. L. R. Botigué, D. M. Bobo, D. Twigg, C. D. Bustamante, J. M. Kidd, B. M. Henn.

2005F   Identification of known genes in a novel gene discovery project: Experience of the FORGE Canada Consortium. S. L. Sawyer, C. L. Beaulieu, D. E. Bulman, F. P. Bernier, K. M. Boycott, FORGE Canada Consortium.

2006W   Genic intolerance to functional variation and the interpretation of personal genomes. S. Petrovski, Q. Wang, E. L. Heinzen, A. S. Allen, D. B. Goldstein.

2007T   Analysis of nucleotide changes in miRNAs genes along primate evolution. I. Balcells, M. Mele, T. Marques-Bonet, Y. Espinosa-Parilla.

2008F   Mitochondrial haplogroup B and oxidative stress associations with antiretroviral-associated peripheral neuropathy in Thai individuals. R. Levinson, T. Hulgan, M. Gerschenson, N. Phanuphak, J. Ananworanich, A. Baker, V. Valcour, D. E. LiButti, T. Jadwattanakul, D. Murdock, J. McArthur, C. Shikuma, D. C. Samuels, SEARCH 003 Study Team.

2009W   Defects in the autophagy pathway contribute to glaucoma caused by mutant myocilin accumulation. X. Lin, G. Zode, C. C. Searby, V. C. Sheffield.

2010T   Modeling mutation events for complex variants in human genome. M. Bhuyan, I. Pe'er.

2011F   Modeling variability in the population mutation rate using 1000 Genomes data for discovery and interpretation of rare variation. V. Aggarwala, B. Voight.

2012W   Neanderthal introgression at chromosome 3p21.31 was under positive natural selection in East Asians. Q. Ding, Y. Hu, S. Xu, J. Wang, L. Jin.

2013T   Homozygous losses of human-specific neural SRGAP2C gene discovered in patients with intellectual disability. X. Nuttle, K. Witherspoon, C. Baker, B. Coe, M. Fichera, J. Schuurs-Hoeijmakers, R. Bernier, J. Gecz, B. B. A. de Vries, C. Romano, J. Shendure, E. Eichler.

2014F   Most autosomal recessive diseases have no frequent mutations that reflect increased carrier fitness or mutation hotspots. M. A. H. Gener, R. V. Lebo.

2015W   Multiple LD-independent signals of extreme sub-population variation at a region associated with type-2 diabetes suggests a non-neutral evolutionary history. P. L. Babb, B. F. Voight.

2016T   Analysis of type 2 diabetes and obesity variants in Mexican Pima Indians: The Maycoba Project. R. L. Hanson, L. O. Schulz, P. H. Bennett, S. Kobes, R. C. Williams, M. E. Valencia, J. Esparza-Romero, R. Urquidez-Romero, L. S. Chaudhari, E. Ravussin, W. C. Knowler, L. J. Baier.

2017F   Evolution, adaptation and disease perspectives of Indian populations. S. Nizamuddin, L. V. K. S. Bhaskar, P. B. Gai, B. G. Venkatesh, M. Jyotsna, K. Thangaraj.

2018W   Whole genome sequencing reveals past population history and signature of natural selection in a Japanese population. A. Fujimoto, T. Abe, K. Boroevich, K. Nakano, A. Sasaki, R. Kitada, H. Tanaka, Y. Nakamura, S. Miyano, M. Kubo, H. Nakagawa, T. Tsunoda.

2019T   Integrated natural selection and genome-wide association scan for cholera resistance in Bangladesh. E. K. Karlsson, S. Tabrizi, I. Shylakhter, F. Qadri, J. B. Harris, R. C. LaRocque, P. C. Sabeti.

2020F   Targeted analysis of immunogenetic diversity in pre-Columbian Central Andean populations. B. Llamas, G. Valverde-Garnica, A. Cooper, W. Haak.

2021W   Learning natural selection from the site frequency spectrum. R. Ronen, N. Udpa, E. Halperin, V. Bafna.

2022T   Reconstructing bacterial phylogeny using whole-genome deep-sequencing data. Y. Lo, L. Zhang, B. Foxman, S. Zöllner.

2023F   The adaptive variant EDARV370A is associated with straight hair in East Asians. J. Tan, Y. Yang, K. Tang, P. Sabeti, L. Jin, S. Wang.

2024W   Macrophages from African and European populations respond differently to bacterial infection. Y. Nédélec, A. Pagé Sabourin, V. Yotova, J. C. Grenier, N. Cotta, L. B. Barreiro.

2025T   Co-evolution of HLA class I with killer cell immunoglobulin-like receptors in a sub-Saharan African population. P. J. Norman, J. A. Hollenbach, N. Nemat-Gorgani1, L. A. Guethlein, H. G. Hilton, M. J. Pando, K. Koram, E. M. Riley, L. Abi-Rached, P. Parham.

2026F   Host genetics and human adaptation to Lassa hemorrhagic fever in West Africa. S. Tabrizi, R. Tariyal, I. Shlyakhter, S. F. Schaffner, S. K. Gire, M. S. Stremlau, E. K. Karlsson, K. G. Andersen, E. Phelan, L. M. Moses, W. Omoniwa, I. Odia, P. E. Ehiane, O. Folarin, A. Tareila, L. M. Branco, J. S. Schieffelin, D. Levy, S. Gunther, D. S. Grant, G. O. Akpede, D. A. Asogun, P. O. Okokhere, R. F. Garry, C. T. Happi, P. C. Sabeti, Viral Hemorrhagic Fever Consortium.

2027W   Characterizing positive natural selection in Asian urban and indigenous populations. X. Liu, R.T.-H. Ong, W. Y. Saw, A. Mohammad, Y. Y. Teo, HUGO Pan-Asian SNP Consortium.

2028T   Sensitivity of haplotype signatures of negative selection under different demographic scenarios. D. Ortega Del Vecchyo, M. Ehm, M. Nelson, S. Zollner, K. Lohmueller, J. Novembre.

2029F   Identification of regions under positive selection in the Gullah African American population of South Carolina. P. S. Ramos, S. P. Sajuthi, J. Divers, Y. Huang, U. Nayak, W. M. Chen, K. J. Hunt, D. L. Kamen, G. S. Gilkeson, J. K. Frenandes, I. J. Spruill, C. D. Langefeld, W. T. Garvey, M. M. Sale.

2030W   Identification of a Tibetan-specific mutation in the hypoxic gene EGLN1 and its contribution to high-altitude adaptation. B. Su, K. Xiang, Ouzhuluobu, Y. Peng, Z. Yang, X. Zhang, C. Cui, H. Zhang, M. Li, Y. Zhang, Bianba, Gonggalanzi, Basang, Ciwangsangbu, T. Wu, H. Chen, H. Shi, X. Qi.

2031T   Fluctuating and geographically specific selection characterize rapid evolution of the human killer immunoglobulin-like receptor locus. J. A. Hollenbach, P. J. Norman, J. I. Rotter, E. A. Trachtenberg, P. Parham, K. D. Taylor.

2032F   Inference of natural selection and demographic history for African Pygmy hunter-gatherers. P. H. Hsieh, K. R. Veeramah, J. Lachance, S. A. Tishkoff, J. D. Wall, M. F. Hammer, R. N. Gutenkunst.

2033W   Forward simulations of recurrent selection and demographics with rescaled parameters. L. H. Uricchio, R. D. Hernandez.

2034T   Variation in bone mineral density in children of different ethnic backgrounds is explained by genetic profiling: The Generation R Study. M. Medina Gomez, D. H. M. Heppe, K. Estrada, L. Oei, A. Hofman, M. Kayser, A. G. Uitterlinden, V. W. Jaddoe, O. Lao, F. Rivadeneira.

2035F   Non-random geospatial distributions of HLA-haplotypes in the United States. N. P. Leahy, A. Chatterjee, M. Albrecht, M. Maiers.

2036W   Proportion of African ancestry in Helicobacter pylori is associated with increased severity of gastric lesions in human hosts with high Amerindian ancestry. N. Kodaman, A. Pazos, B. G. Schneider, R. Sobota, M. B. Piazuelo, C. L. Shaffer, J. Romero-Gallo, T. de Sablet, L. E. Bravo, K. Wilson, T. Cover, S. M. Williams, P. Correa.

2037T   Principal component analysis reveals the 1000 Genomes Project does not sufficiently cover the human genetic diversity in Asia. D. Lu, S. Xu.

2038F   The Iranian Genomes Project. R. Daneshjou, M. Ronaghi, C. D. Bustamante, P. C. Sabeti, R. B. Altman.

2039W   Morphometric and ancient DNA study of human skeletal remanants in Indian subcontinent. N. Rai, M. Mirazon Lahr, L. Singh, K. Thangaraj.

2040T   No significant differences in the accumulation of deleterious mutations across diverse human populations. R. Do, D. Balick, I. Adzhubey, S. Sunyaev, D. Reich.

2041F   Y chromosomes of ancient Hunnu people and its implication on the phylogeny of East Asian linguistic families. L. L. Kang, T. B. Jin, F. Wu, X. Ao, S. Q. Wen, C. C. Wang, Y. Z. Huang, X. L. Li, H. Li.

2042W   Admixture in the pre-Columbian Caribbean. J. C. Martinez-Cruzado, E. P. Tascón-Peńaranda, F. Curbelo-Canabal, T. Porrata-Doria, C. Eng, E. G. Burchard.

2043T   Resequencing of Australian Aboriginal mtDNA and Y chromosomes. Y. Xue, M. Cerezo Fernandez, Y. Chen, S. McCarthy, M. O. Pollard, Q. Ayub, N. Nagle, P. McAllister, R. J. Mitchell, C. Tyler-Smith.

2044F   The possible role of social selection in the distribution of the Proto-Mongolian haplotype in Kazakhs, Kyrgyz, Mongols and other Eurasian populations. M. Zhabagin, P. Tarlykov, Z. Sabitov, H. Dibirova, A. Bogunova, I. Tazhigulova, S. Frolova, Z. Isakova, A. Nimadava, I. Zakharov, O. Balanovsky.

2045W   Y-chromosome diversity in Mayan, Ch’ol, and Chontal populations from Campeche and Tabasco. A. Quinto, M. A. Meraz, R. Camacho, T. Schurr, M. Vilar, G. Noris, C. Santana, J. B. Gaieski, A. C. Owings, R. Gómez.

2046T   Juxtapositions of short IBD blocks can cause biased estimation in inferences based on the length of IBD blocks. C. W. K. Chiang, J. Novembre.

2047F   Improved detection of ancient hominin admixture in modern humans. S. R. Browning, B. Vernot, B. L. Browning, J. M. Akey.

2048W   The theoretical accuracy of deterministic approximations to coalescent formulas. E. M. Jewett, N. A. Rosenberg.

2049T   DNA-based detection of glucose 6-phosphate dehydrogenase (G6PD) deficiency alleles in an Eastern Caribbean population. C. Gupta, L. Deschęnes, C. Headland, I. McIntosh.

2050F   Insights on the evolutionary history of Tibetans from whole-genome sequence data. H. Hu, T. Simonson, G. Glusman, J. Roach, G. Cavalleri, M. Brunkow, M. McCormack, N. Petousi, P. Lorenzo, R. Gelinas, L. Jorde, J. Prchal, P. Robbins, C. Huff.

2051W   Identification of signals of recent selection in the Sea Island Gullah African Americans. S. P. Sajuthi, J. Divers, Y. Huang, U. Nayak, W. Chen, K. J. Hunt, D. L. Kamen, G. S. Gilkeson, J. K. Fernandes, I. J. Spruill, C. D. Langefeld, W. T. Garvey, M. M. Sale, P. S. Ramos.

2052T   Population structure and selection pressures: Short indels and structural variants from NGS in 250 Dutch trios. A. Abdellaoui, V. Guryev, L. Francioli, J. Y. Hehir-Kwa, W. Kloosterman, T. Marschall, A. Schoenhuth, E. Lameijer, S. Koval, F. Hormozdiari, J. de Ligt, N. Amin, F. van Dijk, L. Karssen, H. Mei, E. E. Eichler, D. I. Boomsma, K. Ye, Genome of Netherlands Consortium.

2053F   Reconciling migration models to the americas with the variation of North American Native mitogenomes. A. Achilli, U. A. Perego, H. Lancioni, A. Olivieri, F. Gandini, B. Hooshiar Kashani, V. Battaglia, V. Grugni, N. Angerhofer, M. P. Rogers, R. J. Herrera, S. R. Woodward, D. Labuda, D. Glenn Smith, J. S. Cybulski, O. Semino, R. S. Malhi, A. Torroni.

2054W   Data from extended 1000 Genomes phase I populations refine comparison of X-linked and autosomal population genetic patterns. L. Arbiza, S. Gottipati, A. Siepel, A. G. Clark, A. Keinan.

2055T   Population differentiation of two Brazilian populations inferred from non-genic Alu insertions and microsatellites of the class I major histocompatibility complex. A. C. Arcanjo, H. A. Sakata, R. C. P. Toledo, E. C. Castelli, H. R. Magaldi, J. A. Peńa, S. F. Oliveira.

2056F   Y chromosomal sequences from southern Africa allow direct comparison of paternal and maternal prehistories. C. Barbieri, S. Lippold, R. Schröder, S. W. Mpoloka, M. Stoneking, B. Pakendorf.

2057W   Population structure in five Mennonite communities. K. G. Beaty, P. E. Melton, M. J. Mosher, M. H. Crawford.

2058T   Identity by descent segment detection in sequence data. B. L. Browning, S. R. Browning.

2059F   Synthesizing genetic and genealogical data to trace historical waves of European and African immigration to the United States. J. K. Byrnes, J. M. Granka, K. Noto, R. E. Curtis, Y. Wang, M. J. Barber, N. M. Myres, C. A. Ball, K. G. Chahine.

2060W   Population demography and maternal history of Oceania. A. T. Duggan, B. Evans, M. Kayser, R. J. Trent, D. A. Merriwether, G. Koki, F. R. Friedlaender, J. S. Friedlaender, M. Stoneking.

2061T   The Saudi Arabian genome reveals a two step Out-of-Africa migration. J. J. Farrell, A. K. Al-Ali, L. A. Farrer, A. N. Al-Nafaie, A. M. Al-Rubaish, E. Melista, Z. Naserullah, A. Alsuliman, P. Sebastiani, M. H. Steinberg, C. T. Baldwin.

2062F   The CARTaGENE genomics project: Population structure, local ancestry contributions and relatedness analysis of the French Canadian founder population. H. Gauvin, Y. Idaghdour, J. Hussin, J.-P. Goulet, J.-C. Grenier, M. Capredon, A. Hodgkinson, T. de Malliard, V. Bruat, E. Gbeha, E. Hip-Ki, P. Awadalla.

2063W   Reconstruction of ancestral human genomes from genome-wide DNA matches. J. M. Granka, R. E. Curtis, J. K. Byrnes, M. J. Barber, N. M. Myres, K. Noto, Y. Wang, C. A. Ball, K. G. Chahine.

2064T   The population history of African and Caribbean vervet monkeys inferred from 130 whole-genome-sequenced samples. Y. Huang, H. Svardal, C. A. Schmitt, A. J. Jasinska, J. Wasserscheid, N. Juretic, Y. J. Jung, M. Muller-Trutwin, B. Jacquelin, M. Antonio, M. Dione, J. P. Grobler, R. K. Wilson, K. Dewar, W. Warren, G. Weinstock, T. R. Turner, M. Nordborg, N. B. Freimer, First two authors contributed equally.

2065F   The Sherpa and Tibetans share a common genetic history and adaptations to high altitude. C. Jeong, D. B. Witonsky, G. Alkorta-Aranburu, B. Basnyat, M. Neupane, J. K. Pritchard, C. M. Beall, A. Di Rienzo.

2066W   The genetic architecture of skin pigmentation in Southern Africa. A. R. Martin, J. M. Granka, C. R. Gignoux, M. Möller, C. J. Werely, J. M. Kidd, M. W. Feldman, E. G. Hoal, C. D. Bustamante, B. M. Henn.

2067T   A novel likelihood ratio test for sex-bias and the effect of cryptic sex-bias on the estimation of demographic parameters. S. Musharoff, S. Shringarpure, C. D. Bustamante, S. Ramachandran.

2068F   Y-chromosomal variation in native South Americans: Bright dots on a gray canvas. M. Nothnagel, L. Roewer, L. Gusmăo, V. Gomes, M. González, D. Corach, A. Sala, E. Alechine, T. Palha, N. Santos, A. Ribeiro-dos-Santos, M. Geppert, S. Willuweit, M. Nagy, S. Zweynert, M. Baeta, C. Núńez, B. Martínez-Jarreta, F. González-Andrade, E. Fagundes de Carvalho, D. Aparecida da Silva, J. José Builes, D. Turbón, A. Maria Lopez Parra, E. Arroyo-Pardo, U. Toscanini, L. Borjas, C. Barletta, S. Santos, M. Krawczak.

2069W   Analysis of haplotype sharing and recent demographic history in the Netherlands. P. Palamara, I. Pe'er, Genome of the Netherlands Consortium.

2070T   Limitations to determining genetic history in the recombinant genome and connection to demographic events from samples of modern populations. D. Platt, F. Utro, L. Parida.

2071F   Analyses of exome variants suggest enrichment for functionally-important variants during human expansion into the Americas. S. Ramachandran, J. J. Yang.

2072W   Whole exome sequencing of 126 Northeast Asian individuals including Korean, Chinese, Japanese, and Mongolian ethnicities. A. Rhie, S. Lee, W. Roh, J. Shin, J. I. Kim, J. S. Seo.

2073T   The impact of background selection on fine-scale population structure in humans. R. Torres, R. D. Hernandez.

2074F   Evaluating the impact of sex-biased demography and selection on genomic patterns of human diversity. A. Walia, W. Fu, S. Ramachandran.

2075W   Estimation of effective population size and divergence time of modern human populations suggest recent gene flow between European and African populations. S. Xu, P. Qin, D. Lu, L. Zhao.

2076T   Spatial localization at each locus in the genome. W. Yang, A. Platt, C. Chiang, E. Eskin, J. Novembre, B. Pasaniuc.

2077F   Separation of the largest eigenvalues in eigenanalysis of genotype data from discrete subpopulations. K. Bryc, W. Bryc, J. W. Silverstein.

2078W   Detection of identity-by-descent in whole exome sequencing data. W. Fu, M. J. Bamshad, D. A. Nickerson, J. M. Akey, NHLBI Exome Sequencing Project.

2079T   The timing and history of Neandertal gene flow into modern humans. S. Sankararaman, N. Patterson, S. Pääbo, D. Reich.

2080F   A method for computing the exact distribution of the genealogical history of a sample derived from a structured population. M. Uyenoyama, S. Kumagai.

2081W   Rare variant stratification in small geographic areas. S. Zöllner, M. Mueller-Nurasyid, M. Zawistowski, M. Reppell, J. Novembre, K. Wolf, A. Peters, H. Grallert, K. Strauch.

2082T   Response of carrier frequency to a population bottleneck can quantify the amount of recessive variation. D. J. Balick, R. Do, D. E. Reich, S. R. Sunyaev.

2083F   Whole genome sequencing informs genealogy and the search for genetic modifiers in a PSEN1 E280A early-onset familial Alzheimer's disease cohort. H. C. Cox, M. Lalli, D. E. Mauldin, H. Li, M. Brunkow, M. L. Arcilia, G. Garcia, L. Madrigal, S. Moreno, K. S. Kosik, L. Hood, J. Roach, G. Glusman, F. Lopera.

2084W   Integration of low coverage whole genome sequence from the Kuusamo Finnish isolate with 1000 Genomes Project data provides an improved population reference panel. A.-P. Sarin, K. Palin, I. Zara, K. Rehnstrom, M. Perola, V. Salomaa, A. Palotie, S. Ripatti, R. Durbin.

2085T   Genealogical evidence of allele frequency shuffling explains regional genetic structure in a founder population. C. Bherer, L. Excoffier, M. H. Roy-Gagnon, J. Hussin, H. Vézina, D. Labuda.

2086F   Genetic characterisation of two Greek population isolates. K. Hatzikotoulas, K. Panoutsopoulou, I. Tachmazidou, L. Southam, D. Xifara, L. Moutsianas, A. Farmaki, A. Matchan, N. W. Rayner, C. Kiagiadaki, E. Tsafantakis, I. Ntalla, M. Karaleftheri, G. Dedoussis, E. Zeggini.

2087W   Risks for Mendelian disorders in the Bronx. K. Upadhyay, H. Ostrer, C. Oddoux.

2088T   MAK gene Alu element insertion: High carrier frequency among Ashkenazi Jews most likely due to founder effect. L. Shi, M. Luo, L. Edelmann, R. Kornreich.

2089F   Whole exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. A. Hodgkinson, F. Casals, J. Hussin, Y. Idaghdour, V. Bruat, T. de Malliard, J. C. Grenier, E. Gbeha, F. Hamdan, S. Girard, J. F. Spinella, M. Lariviere, V. Saillour, J. Healy, I. Fernandez, D. Sinnett, J. Michaud, G. Rouleau, E. Haddad, F. Le Deist, P. Awadalla.

2090W   Whole exome sequencing in families with rare perinatal onset immunodysregulatory diseases present with fever and systemic inflammation. Z. Deng, Y. Liu, A. Almeida de Jesus, H. Sun, M. Gadina, R. Goldbach-Mansky.

2091T   The impact of population demography and selection on the genetic architecture of complex traits. K. E. Lohmueller.

2092F   Regional rare allele sharing in a homogeneous, geographically clustered population. S. L. Pulit, A. Menelaou, C. C. Elbers, L. C. Francioli, P. I. W. de Bakker, The Genome of the Netherlands Consortium.

2093W   Estimation of migration rates and patterns based on distributions of rare variants. R. Rothwell, M. Ehm, P. St. Jean, M. Nelson, J. Novembre, S. Zöllner.

2094T   Exome sequencing revealing unique genetic profile of Quebec Nunavik Inuit population. S. Zhou, L. Xiong, A. Ambalavanan, A. Dionne-Laporte, D. Spiegelman, E. Henrion, O. Diallo, C. Bourassa, N. Dupré, M.-P. Dubé, P. Dion, G. Rouleau.

2095F   Inference of population structure using sequence data. G. Bhatia, A. Gusev, N. Zaitlen, B. J. Vilhjalmsson, D. Diogo, P. K. Gregersen, J. Worthington, L. Padyukov, S. Raychaudhuri, R. M. Plenge, B. Pasaniuc, A. L. Price.

2096W   Population-specific variants in whole exome sequencing of American Indians: The Strong Heart Family Study. S. A. Cole, P. E. Melton, K. Haack, C. Bizon, J. K. Sailsbery, K. C. Wilhelmsen, E. T. Lee, L. G. Best, L. A. Almasy, N. Franceschini.

2097T   Forward-in-time simulation of recombination, quantitative traits, and selection. D. Kessner, J. Novembre.

2098F   A low frequency of copy number polymorphism for the NPEPPS, POLR2J4, and PCDHB13 genes in a sample of admixed Brazilian population. D. Jimenez, T. Lins, P. Taveira, R. Pereira.

2099W   Amylase gene copy number polymorphism in ethnically admixed sample from Brazil. T. Lins, D. Jimenez, P. Taveira, R. Pereira.

2100T   Mitochondrial genome database for Saudi community. I. Alabdulkareem, M. Albalwi, M. Alharbi, A. Alghamdi, B. Alhamad, M. Aljumah.

2101F   Evolutionary insights into genetic and environmental factors for Crohn’s disease in Ryuku and Northern Kyushu. S. Nakagome, H. Chinen, H. Said, W. Suda, A. Iraha, A. Hokama, F. Kinjo, J. Fujita, Y. Takeyama, S. Sakisaka, T. Matsui, J. Kidd, K. Kidd, S. Kawamura, T. Hanihara, R. Kimura, H. Ishida, H. Morita, M. Hattori, S. Mano, H. Oota.

2102W   The demographic and genetic dynamics of the human sex ratio from conception to birth. S. Orzack.

2103T   Critical illness from pandemic influenza A/H1N1 and Streptococcus pneumoniae co-infection in Nuevo León, Mexico. B. Silva, A. Padrón-Rocha, D. Reséndez-Pérez, M. Bermúdez-de León.

2104F   Quantitative genetic analysis of reactivity to three distinct behavioral challenges in an infant primate model of susceptibility to anxiety disorders and depression. G. L. Fawcett, A. M. Dettmer, D. Kay, M. Raveendran, J. D. Higley, N. D. Ryan, J. L. Cameron, J. Rogers.

2105W   Genetic and environmental variables contribute to genome-wide methylation variation in geographically diverse Africans. S. Soi, L. B. Scheinfeldt, D. Diep, W. Beggs, N. Plongthongkum, S. A. Tishkoff, K. Zhang.


Cardiovascular Genetics

 

2106W   The myocardial infarction-associated gene PHACTR1 is controlled by MEF2. M. Beaudoin, S. Langlois, K. S. Lo, A. N'Diaye, J. C. Tardif, G. Lettre.

2107T   Association of variants in inflammatory genes with disease severity in familial cerebral cavernous malformations type 1. H. Choquet, L. Pawlikowska, J. Nelson, C. E. McCulloch, A. Akers, B. Baca, B. Hart, L. Morrison, H. Kim, Brain Vascular Malformation Consortium (BVMC).

2108F   Are loci associated with low density lipoprotein cholesterol (LDL-C) in non-diabetics similarly associated with LDL-C in type 1 diabetes? K. M. Eny, L. Sun, A. J. Canty, S. B. Bull, A. P. Boright, S. M. Hosseini, P. A. Cleary, J. M. Lachin, A. D. Paterson, DCCT/EDIC Research Group.

2109W   Sequencing candidate genes associated with conotruncal heart defects. K. Osoegawa, C. Parodi, N. Mohammed, K. Schultz, D. Noonan, M. Ladner, G. Shaw, E. Trachtenberg, E. Lammer.

2110T   Identification of sequence variants of hepatic lipase (LIPC) gene in individuals with extreme HDL-C/TG levels. D. Pirim, F. Y. Demirci, X. Wang, J. E. Hokanson, R. F. Hamman, C. H. Bunker, M. M. Barmada, M. I. Kamboh.

2111F   Replication of hypertension risk score in two Hispanic populations. G. Beecham, A. Beecham, N. Vasudeva, L. Wang, Z. Liu, T. Rundek, P. Goldschmidt, M. Pericak-Vance, D. Seo, R. L. Sacco, S. Blanton.

2112W   Role of the rs1704 HLA-G and rs2227631 PAI-1 polymorphisms in acute coronary syndrome. I. J. Garcia-Gonzalez, Y. Valle, F. Rivas, L. E. Figuera-Villanueva, J. F. Muńoz-Valle, F. Ortega-Gutiérrez, B. E. Gutiérrez-Amavizca, N. O. Dávalos-Rodríguez, J. R. Padilla-Gutiérrez.

2113T   FLNA mutations found in patients with aortic aneurysm/dissections. H. Morisaki, I. Yamanaka, A. Yoshida, R. Sultana, K. Minatoya, I. Shiraishi, H. Ichikawa, T. Kosho, H. Sonoda, T. Morisaki.

2114F   Arrhythmogenic right ventricular cardiomyopathy-molecular analysis. P. Nallari.

2115W   A variant in the 5-hydroxytryptamine receptor 1 A (HTR1A) gene is associated with platelet reactivity and incident cardiovascular events. S. H. Shah, M. A. Babyak, E. R. Hauser, D. Craig, M. Chryst-Ladd, C. Haynes, B. Brumett, W. E. Kraus, R. Becker, R. B. Williams.

2116T   Exome sequencing identifies BAG3 gene mutation in dilated cardiomyopathy. M. Taylor, R. L. Begay, V. D. Myers, S. L. Graw, D. Slavov, P. Boyer, L. Mestroni, A. Feldman.

2117F   Haploinsufficiency of RERE contributes to cardiovascular defects associated with 1p36 deletions. H. Zaveri, B. J. Kim, A. Hernandez-Garcia, T. F. Beck, O. A. Shchelochkov, M. Justice, B. Lee, S. R. Lalani, D. A. Scott.

2118W   Analysis of common and coding variants with cardiovascular disease in the Diabetes Heart Study. J. N. Adams, L. M. Raffield, B. I. Freeman, C. D. Langefeld, M. C. Y. Ng, J. J. Carr, A. J. Cox, D. W. Bowden.

2119T   VKORC1 and CALU eQTLs and susceptibility to venous thromboembolism among African Americans. W. Hernandez, E. R. Gamazon, A. Konkashbaev, K. Aquino-Michaels, T. J. O'Brien, A. F. Harralson, R. A. Kittles, A. Barbour, M. Tuck, S. D. McIntosh, J. N. Douglas, L. H. Cavallari, M. A. Perera.

2120F   Multi-allelic haplotype association identifies a new protective haplotype in the KCNN3 gene for post-operative atrial fibrillation. M. Heydarpour, C. Collard, A. Fox, J. Muehlschlegel, M. Sigurdsson, S. Shernan, S. Body.

2121W   Elucidating the role of genes encoding sarcomeric structural proteins in modulating cardiac hypertrophy in hypertrophic cardiomyopathy. C. J. Kinnear, L. Bloem, L. van der Merwe, M. Revera, M. Heradien, A. Goosen, P. A. Brink, J. C. Moolman-Smook.

2122T   Analysis of coding variants in C1q/TNF superfamily genes in the Diabetes Heart Study. L. M. Raffield, A. J. Cox, C. D. Langefeld, M. C. Y. Ng, J. J. Carr, B. I. Freedman, D. W. Bowden.

2123F   Cross-sectional and longitudinal replication analyses of genome-wide association loci of type 2 diabetes in Han Chinese populations. Q. Zhao, X. Kong, J. Hong, X. Zhang, J. He, W. Yang.

2124W   Sex-specific genetic variants on 11p15 influence high density-lipoprotein cholesterol levels in long-lived subjects: The Long Life Family Study. M. F. Feitosa, M. K. Wojczynski, C. M. Kammerer, W. Daw, R. J. Straka, J. H. Lee, K. Christensen, A. B. Newman, M. A. Province, I. B. Borecki.

2125T   Influence of genetic determinants and lifestyle factors on blood lipid traits: 10-year follow-up of the GLACIER Study. T. V. Varga, D. Shungin, R. W. Koivula, G. Hallmans, I. Johansson, I. Barroso, F. Renström, P. W. Franks.

2126F   Haplotypes of cytokine gene polymorphisms in dilated cardiomyopathy. M. L. Satyanarayana, V. Viswamitra, N. Swapna, N. Pratibha.

2127W   Multi-ethnic case-control studies of Moyamoya disease by high-depth exome sequencing of unrelated affected individuals and matched controls. M. Clark, L. Shoemaker, A. Patwardhan, R. Chen, G. Chandratillake, S. Garcia, N. Leng, S. Chervitz, M. Pratt, H. Lam, D. Newburger, S. Kirk, C. Haudenschild, J. West, R. Chen, G. Steinberg.

2128T   Digenic inheritance of mutations in ITGA7 and MYH7B results in congenital myopathy with left ventricular non-compact cardiomyopathy. T. Esposito, S. Sampaolo, G. Limongelli, A. Varone, D. Formicola, D. Diodato, O. Farina, F. Napolitano, G. Pacileo, F. Gianfrancesco, G. Di Iorio.

2129F   Genetic variants associated with C-reactive protein in African Americans: A MetaboChip analysis in the Population Architecture using Genomics and Epidemiology study. J. M. Kocarnik, C. L. Carty, A. Reiner, C. L. Avery, C. M. Ballantyne, J. Haessler, A. LaCroix, A. Young, T. L. Assimes, M. Barbalic, W. Tang, L. G. Best, J. L. Ambite, I. Cheng, L. A. Hindorff, G. Heiss, C. A. Haiman, C. L. Kooperberg, L. Le Marchand, U. Peters.

2130W   Predictive profile for the early detection of metabolic syndrome in a pediatric Turkish cohort. M. J. White, M. Agirbasli, F. Eren, D. Agirbasli, S. M. Williams.

2131T   Investigation of functional variants of eight SNPs in lipid level modifier genes in healthy Roma and Hungarian population. B. Melegh, K. Sumegi, L. Jaromi, L. Magyari, E. Kovesdi, B. Duga, R. Szalai, P. Matyas, Zs. Banfai, A. Szabo, J. Bene.

2132F   Arterial tortuosity in patients with vascular abnormalities due to mutation in filamin A. E. Reinstein, S. Morris, D. Rimoin, R. Lacro.

2133W   Phenotype, genotype and natural history of arrhythmogenic dilated cardiomyopathy. A. Spezzacatene, G. Sinagra, M. Merlo, G. Barbati, D. Slavov, A. Di Lenarda, X. Zhu, S. Graw, E. Salcedo, M. Taylor, L. Mestroni.

2134T   Advancing genomic research on congenital cardiac malformations in Africa. P. Kruszka, M. Muenke, B. Solomon, P. Lwabi, L. Harris, A. Beaton, C. Sable, B. Lanpher.

2135F   Advantages of next-generation sequencing in the diagnosis of diseases associated with sudden cardiac death. D. Cantalapiedra, A. Romera, L. Pérez-Cabornero, V. Felipe, D. Valero, G. Hernández, C. Buades, A. Arilla, C. Rodríguez, C. Collado, V. Fernández-Pedrosa, O. Rodríguez, J. Durbán, J. C. Trivińo, S. Zúńiga, A. Ballester, R. Mińambres, M. Gil, A. Forteza-Gil, M. Martínez-Atienza, M. F. Márquez-Murillo, S. Santillán.

2136W   Dilated cardiomyopathy: An updated gene database. S. J. Carlus, K. M. Al Harbi.

2137T   Clinical consequences of CNVs detection in congenital heart disease. L. Kulikowski, E. Zanardo, F. Piazzon, R. Dutra, A. Dias, M. Montenegro, G. Novo-Filho, M. Basso, T. Costa, A. Nascimento, M. Grassi, M. Carneiro-Sampaio, C. Kim.

2138F   Sequence variants in the mitochondrial D-loop region are associated with ventricular arrhythmias and appropriate ICD-therapy. H. Tao, S. Rosenberg, J. Wingrove.

2139W   Relative contributions of gene expression, genetics, and clinical factors for diagnosis of obstructive coronary artery disease. J. Wingrove, A. Johnson, H. Tao, S. Rosenberg.

2140T   Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy. D. Dooijes, J. A. Groeneweg, A. S. Ummels, M. J. Mulder, H. Bikker, J. J. van der Smagt, J. Post, J. F. van der Heijden, A. C. Houweling, J. D. H. Jongbloed, A. A. M. Wilde, J. P. van Tintelen, R. N. Hauer.

2141F   Functional analysis of collagen VI variants and their contribution to atrioventricular septal defect in Down syndrome. C. Ackerman, P. Holden, J. Fitzgerald, C. Maslen.

2142W   Epigenomic regulation in the promoter of miR-210 gene affects HIFa1 binding and vascular diseases. S. H. Juo, K. C. Chen, Y. S. Wang, Y. C. Liao.

2143T   Distribution of hepatic lipase C-514T and G-250A polymorphisms and their association with plasma lipid profile in young Jordanians. O. Khabour, M. Alomari, K. Alzoubi, M. Gharaibeh, F. Alhashimi.

2144F   Novel mutation in PRKAG2 gene highlights the allosteric site of AMPK. C. Phornphutkul, A. Gray, K. Rotondo, J. Padbury, Y. Tseng, D. G. Hardie.

2145W   Systematic cell-based functional screening for novel cardiovascular risk genes. H. Runz, C. Schuberth, P. Blattmann, G. Domschke, A. Thormaehlen, S. Kathiresan, R. Pepperkok.

2146T   Using genetic information to analyse and define the complex aetiology of blood pressure. K. H. Wade, N. J. Timpson, G. Davey Smith.

2147F   Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and an association of ALDH1L1 with ischemic stroke. S. R. Williams, Q. Yang, F. Chen, X. Liu, K. L. Keene, P. Jacques, W. M. Chen, G. Weinstein, F. C. Hsu, A. Beiser, L. Wang, E. Bookman, K. F. Doheny, P. A. Wolf, M. Zilka, J. Selhub, S. Nelson, B. B. Worrall, S. Seshadri, M. M. Sale.

2148W   Analysis of vWA and TPOX loci reveals a highly associated relationship with thrombosis disease in Mexican Mestizo population. R. Camacho, A. Majluf, G. Noris, C. Santana, M. A. Meraz, J. Hernández, R. Gómez.

2149T   GALNT2, a HDL cholesterol and triglyceride candidate gene, regulates lipoprotein metabolism in vivo. S. Khetarpal, A. Edmondson, A. Raghavan, S. Kathiresan, D. Rader.

2150F   Disease-relevant pathways modulate a cis-regulatory element at the TCF21 coronary heart disease locus. C. Miller, D. Anderson, R. Kundu, A. Raiesdana, S. Nürnberg, R. Diaz, N. Leeper, E. Schadt, C. Hsiung, T. Assimes, T. Quertermous.

2151W   A functional polymorphism that affects the APOA5 gene expression determines plasma triglyceride levels conferring coronary atherosclerosis risk in Han Chinese population. W. Shou, F. Xie, Y. Wang, B. Wang, Z. Wang, J. Shi, W. Huang.

2152T   Use of allele-specific FAIRE for identification of functional variants at cardiometabolic loci. A. J. P. Smith, J. Palmen, E. Romeo, F. Drenos, P. Howard, A. D. Hingorani, P. J. Talmud, S. E. Humphries.

2153F   Identification and characterization of patients with autosomal dominant hypercholesterolemia caused by gain-of-function mutations in proprotein convertase subtilisin/kexin type 9 and comparison with patients with familial hypercholesterolemia and familial defective apolipoprotein B. G. D. Swergold, S. W. Fouchier, B. Sjouke, J. Mendoza, S. Mellis, S. Hamon, J. C. Defesche, on behalf of PCSK9 Natural History Study Group.

2154W   GATA4 is implicated in the pathogenesis of neonatal and childhood-onset diabetes. E. De Franco, C. Shaw-Smith, H. Lango Allen, S. Flanagan, M. Borowiec, W. Mlynarski, M. Batlle, J. Ferrer, A. Hattersley, S. Ellard.

2155T   SMAD3 haploinsufficiency has a causative role in development of TAAD. L. Gong, X. Duan, P. Yang, X. F. Wang, O. A. Moffitt, D. M. Milewicz.

2156F   Tnfaip8 is involved in host response to Staphylococcus aureus infection in mice and humans. Q. Yan, S. H. Ahn, B. K. Sharma-Kuinkel, C. L. Nelson, W. K. Scott, A. S. Allen, T. H. Rude, V. G. Fowler, Jr.

2157W   Association of eNOS 4 a/b polymorphism in Mexican patients with coronary artery disease. M. P. Gallegos, Jr., R. P. Mariaud, L. E. Figuera, . M. Puebla, G. M. Zúńiga.

2158T   KLF15 regulates circadian cardiac susceptibility to ischemia reperfusion injury. L. Zhang, D. Prosdocimo, M. Jain.

2159F   Interactions among depressive symptoms and genetic influences on cardiac outcomes. L. Frazier, J. Sanner, T.-Y. Yu, A. Morrison, E. Boerwinkle.

2160W   A genome-wide interaction study identifies PDE1C genetic variants and renal function as jointly associated with coronary artery disease. C. Ward-Caviness, M. Winn, C. Blach, C. Haynes, E. Dowdy, S. Gregory, S. Shah, W. Kraus, E. Hauser.

2161T   A 62 variant type 2 diabetes genetic risk score is not associated with subclinical atherosclerosis in the Framingham Heart Study - SNP Health Association Resource (FHS SHARe Study). M. Dauriz, B. Porneala, J. L. Vassy, M. F. Hivert, J. M. Murabito, J. C. Florez, J. Dupuis, C. J. O'Donnell, J. B. Meigs.

2162F   Saturated fat intake modulates the association between an obesity genetic risk score and BMI. P. Casas-Agustench, D. K. Arnett, C. E. Smith, C.-Q. Lai, L. D. Parnell, I. B. Borecki, Y.-C. Lee, J. M. Ordovás.

2163W   GxE GWAS and path analysis identify a cardiovascular and metabolic risk gene EBF1. A. Singh, M. B. Babyak, D. K. Nolan, B. H. Brummett, R. Jiang, I. C. Siegler, S. H. Shah, R. B. Williams, E. R. Hauser.

2164T   Influences of SNPs of LIPC, LIPG, APO E, PLTP and PON1 genes on plasma high-density lipoprotein, cholesterol and paraoxonase-1 activity. D. Z. Scherrer, V. H. S. Zago, R. Secolin, E. S. Parra, N. B. Panzoldo, F. Alexandre, I. V. Calanca, E. Nakandakare, E. C. R. Quintăo, E. C. de Faria.

2165F   Analysis of allele specific expression and transcription factor activity identifies potential gene-by-environment mechanisms of coronary heart disease risk. O. V. Sazonova, A. Raiesdana, S. T. Nurnberg, K. S. Smith, V. Anaya, T. Quertermous, S. B. Montgomery.

2166W   A genome-wide association study reveals novel susceptibility loci for coronary artery disease in Saudi Arabs. N. Dzimiri, C. Nguyen, S. M. Wakil, N. P. Muiya, E. Andres, N. Mahzar, B. Baz, S. Hagos, M. Alshahid, G. Morahan, B. F. Meyer.

2167T   A genome-wide association study reveals novel susceptibility loci for obesity in Saudi Arabs. N. P. Muiya, C. Nguyen, S. M. Wakil, E. Andres, N. Mazhar, B. Baz, D. Gueco, M. Najai, O. Alboudary, S. Hawari, S. Hagos, M. Alshahid, G. Morahan, B. F. Meyer, N. Dzimiri.

2168F   Investigation of genome-wide DNA methylation marks associated with FV Leiden mutation in patients with venous thrombosis. D. Aďssi, M. Ladouceur, J. Dennis, F. Gagnon, P. E. Morange, D. A. Trégouët.

2169W   Sex-specific effects of CAD SNPs in sudden cardiac death. F. N. Ashar, C. Albert, S. S. Chugh, A. Cupples, M. Eigelsheim, P. Goyette, A. Huertas-Vazquez, H. Huikuri, J. Jintilla, X. Jouven, S. Kääb, M. Kortelainen, P. Kwok, T. Lehtimäki, L. Lyytikäinen, M. Müller-Nurasyid, C. Newton-Cheh, B. Psaty, S. Pulit, D. Siscovick, B. Stricker, N. Sotoodehnia, D. E. Arking, CHARGE-SCD.

2170T   An extreme phenotype approach to identify genes in Caribbean Hispanics for carotid intima-medial thickness, a preclinical marker of atherosclerosis. S. H. Blanton, A. H. Beecham, L. Wang, C. Dong, D. Cabral, R. L. Sacco, T. Rundek.

2171F   The link between hepcidin, iron and atherosclerosis: A Mendelian randomization approach. T. E. Galesloot, L. L. Janss, D. W. Swinkels, S. H. Vermeulen.

2172W   Eleven novel loci influencing blood pressure. B. Keating, V. Tragante, M. Barnes, S. Ganesh, I. H. Gho, X. Zhu, D. Levy, H. Hakonarson, P. I. W. de Bakker, F. W. Asselbergs, P. B. Munroe, IBC BP Consortium.

2173T   Genetic and phenotypic architecture of coronary artery disease in a diverse population. I. Konidari, L. Wang, Z. Liu, N. Sikka, P. Goldschmidt, M. A. Pericak-Vance, D. Seo, G. W. Beecham.

2174F   Local ancestry inference in a genome-wide association study of a genetically diverse population with coronary artery disease. Z. Liu, L. Wang, N. Vasudeva, P. J. Goldschmidt-Clermont, M. A. Pericak-Vance, D. M. Seo, G. W. Beecham.

2175W   Genetic variants affecting the expression of DRAM2 at 1p13.3 are associated with acute myocardial infarction with different effects for STEMI and NSTEMI. P. Salo, J. Sinisalo, J. Kettunen, A. Havulinna, A. Sarin, T. Hiekkalinna, S. Ripatti, P. J. Karhunen, H. Huikuri, M. Lokki, V. Salomaa, M. Nieminen, M. Perola.

2176T   A novel MMP12 locus is associated with large artery atherosclerotic stroke using a genome-wide age-at-onset informed approach. M. Traylor, K.-M. Mäkelä, L. L. Kilarski, E. G. Holliday, W. J. Devan, M. A. Nalls, K. L. Wiggins, Y.-C. Cheng, S. Achterberg, R. Malik, C. Sudlow, E. Raitoharju, V. Thijs, A. Lindgren, A. Slowik, M. Walters, P. Sharma, J. R. Attia, G. B. Boncoraglio, P. M. Rothwell, P. I. W. de Bakker, J. C. Bis, S. J. Kittner, J. Rosand, J. F. Meschia, C. Levi, M. Dichgans, T. Lehtimäki, C. M. Lewis, H. S. Markus, METASTROKE, WTCCC2.

2177F   Genetic architecture of hypertension in a multi-ethnic population. N. Vasudeva, L. Wang, A. Beecham, P. Goldschmidt, M. Pericak-Vance, D. Seo, G. Beecham.

2178W   12 Novel genome wide associations for human cardiac repolarization. N. Verweij, W. G. Wieringa, I. Mateo Leach, D. J. van Veldhuisen, W. H. van Gilst, H. L. Hillege, R. S. N. Fehrmann, P. I. W. de Bakker, R. A. de Boer, L. Franke, P. van der Harst.

2179T   A three-stage genome-wide association study combining multilocus test and gene expression analysis for young-onset hypertension on Taiwan Han Chinese. K. Chiang, H. Yang, J. Chen, W. Pan.

2180F   Genetic effects on levels of growth differentiation factor 15: A PLATO genomics study. N. Eriksson, A. Johansson, E. Hagström, T. Axelsson, B. J. Barratt, R. C. Becker, M. Bertilsson, A. Himmelmann, S. K. James, H. A. Katus, A. Siegbahn, P. G. Steg, R. F. Storey, A.-C. Syvänen, C. Varenhorst, A. Ĺkerblom, L. Wallentin.

2181W   An eQTL mapping strategy identifies the FN3KRP gene as a risk factor for elevated systolic blood pressure the Norfolk Island genetic isolate. L. R. Griffiths, M. Benton, R. A. Lea, D. Mccartney-Coxson, M. Carless, H. Goring, C. Bellis, M. Hanna, D. Eccles, G. Chambers, J. Curran, J. Blangero.

2182T   Known SNPs in ADAMTS7, the 9p21 region, ZFAND6 and UBE2E interact with type 2 diabetes status to modify the risk of coronary artery disease in large populations. N. R. van Zuydam, B. Voight, C. Ladenvall, R. Strawbridge, S. Willems, E. van Iperen, J. Hartiala, E. Vlachopoulou, E. Mihailov, L. Kwee, C. Nelson, M. Kleber, L. Qu, A. Goel, J. Kumar, S. Kanoni, N. W. Rayner, SUMMIT and CARDIoGRAMplusC4D.

2183F   Association of metabochip variants to systolic blood pressure in African Americans from a biorepository linked to de-identified electronic medical records. L. Wiley, R. Goodloe, E. Farber-Eger, J. Boston, D. Crawford, W. Bush.

2184W   Genome-wide association study of leukocyte telomere length identifies casein kinase 2(CSNK2A2) to be associated with shorter telomere length and increased cardiovascular disease risk in diabetes. P. Natt, R. Saxena, P. Dib, S. Ralhan, G. Wander, D. Stowell, M. Payton, D. Sanghera.

2185T   A Rho-GTPase pathway related gene is associated with chronic kidney disease via an interaction with coronary artery disease. E. Hauser, C. Ward-Caviness, M. Winn, C. Blach, C. Haynes, E. Dowdy, S. Gregory, S. Shah, W. Kraus.

2186F   Identifying interactions among social, psychosocial, and genetic factors that influence blood pressure in three multi-ethnic epidemiological cohorts: The Multi-Ethnic Study of Atherosclerosis, the Atherosclerosis Risk in Communities Study, and the Health and Retirement Study. J. A. Smith, W. Zhao, B. Needham, J. D. Faul, T. E. Seeman, E. Boerwinkle, A. Chakravarti, D. R. Weir, S. L. R. Kardia, A. V. Diez Roux.

2187W   The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: Heritability of serum lipids. T. J. Hoffmann, M. N. Kvale, Y. Banda, E. Jorgenson, S. E. Hesselson, L. Walter, S. Sciortino, D. K. Ranatunga, D. Ludwig, C. Iribarren, P. Kwok, C. Schaefer, N. Risch.

2188T   A family-based linkage and association studies reveal new variants near THBS2 and ACE for blood pressure. H. Kim, S. Im, S. Lee, S. Cho, J. Sung, K. Kim, J. Seo.

2189F   Higher degree of African ancestry in transfused African American sickle cell patients is associated with red cell alloimmunization. R. A. Kittles, R. Machado, N. A. Ellis, K. Batai, J. N. Garcia, S. A. Campbell-Lee.

2190W   Identifying population specific dyslipidemia variants using cross-population GWAS. A. Ko, D. Weissglas-Volkov, R. M. Cantor, E. Nikkola, K. A. Deere, J. S. Sinsheimer, B. Pasaniuc, R. Brown, V. Salomaa, J. Kaprio, A. Loukola, A. Jula, M. Jauhiainen, M. Heliövaara, O. Raitakari, T. Lehtimäki, J. G. Eriksson, M. Perola, L. Riba, T. Tusie-Luna, C. A. Aguilar-Salinas, P. Pajukanta.

2191T   Genome-wide association study for arteriosclerosis obliterans in a Japanese population. K. Ozaki, T. Morizono, Y. Onouchi, A. Takahashi, T. Tsunoda, M. Kubo, Y. Nakamura, T. Tanaka.

2192F   Common autosomal variants are associated with bicuspid aortic valve in Turner syndrome. S. K. Prakash, M. Silberbach, S. Hooker, D. C. Guo, C. Maslen, C. A. Bondy, D. M. Milewicz, GenTAC Investigators.

2193W   Exome-wide coding variation and myocardial infarction. H. Zhang, O. L. Holmen, E. Schmidt, M. Lochen, C. Platou, E. B. Mathiesen, L. Vatten, T. Wilsgaard, F. Skorpen, M. Boehnke, G. R. Abecasis, I. Njolstad, K. Hveem, C. J. Willer.

2194T   Using common genetic variants to predict dyslipidemia. C. M. van Duijn, S. M. Willems, E. J. F. Sijbrands, A. Dehghan, A. Hofman, B. A. Oostra, O. H. Franco, A. Isaacs.

2195F   Genome-wide association study of laboratory markers in Kawasaki disease. J. Kim, J. Lee, Korean Kawasaki Disease Genetics Consortium.

2196W   Novel association of endothelial function with a variant in PEAR1. A. S. Fisch, P. Donnelly, M. Drolet, S. Newcomer, A. Parihar, K. A. Ryan, W. Herzog, A. R. Shuldiner, J. P. Lewis.

2197T   Novel susceptibility loci for resting heart rate: Common genetic variant in KREMEN1 is a replicable and genome-wide significant in Korean and Mongolian populations. B. Gombojav, D. H. Lee, M. K. Lee, M. Kho, Y. J. Yang, E. Purevdorj, Y. M. Song, K. Lee, J. I. Kim, J. Sung, J. S. Seo.

2198F   PMA (phorbol 12-myristate 13-acetate) regulates in vitro alternative splicing of ORL1, a gene, involved in atherogenesis and tumorigenesis. E. Morini, J. R. Tejedor, B. Rizzacasa, M. C. Bellocchi, F. Ferrč, A. Botta, D. Caporossi, J. Valcárcel, G. Novelli, F. Amati.

2199W   Identification of a predictive/prognostic genetic signature in Chagas cardiomyopathy: A systems biology approach on the site of action. C. Chevillard, L. Ferreira, S. Canbantous, A. F. Frade, P. C. Teixeira, B. M. Ianni, C. W. Pissetti, B. Saba, L. H. T. Wang, A. Kuramoto, L. G. Nogueira, P. Buck, F. Dias, M. Baron, S. Alves, E. C. Mairena, A. Schmidt, E. Donadi, J. A. Marin-Neto, M. Hirata, M. Sampaio, A. Fragata, E. A. Bocchi, A. N. Stolf, A. I. Fiorelli, R. H. B. Santos, V. Rodrigues, Jr., A. C. Pereira, J. Kalil, E. Cunha-Neto.

2200T   Identification of susceptibility modules for coronary artery disease using a genome-wide integrated network analysis. C. Dong, X. Luo, S. Duan.

2201F   Systematic phenotype prediction in zebrafish identifies novel, disease-relevant cardiovascular gene functions. G. Musso, M. Tasan, C. Mosimann, J. E. Beaver, E. Plovie, L. A. Carr, H. N. Chua, J. Dunham, K. Zuberi, Q. Morris, L. Zon, F. P. Roth, C. A. MacRae.

2202W   Large-scale transcriptome profiling in peripheral blood mononuclear cells of early-onset myocardial infarction individuals and matched controls. C. Müller, A. Schillert, M. O. Scheinhardt, S. Szymczak, F. Ojeda, C. R. Sinning, R. B. Schnabel, S. Wilde, P. S. Wild, K. J. Lackner, T. Munzel, A. Ziegler, S. Blankenberg, T. Zeller.

2203T   Investigating the role of HoxA3 during cardiac development. V. Sanghez, D. Rux, S. Chan, L. Borges, N. Koyano, R. Perlingeiro, D. Garry, M. Kyba, M. Iacovino.

2204F   Joint association of 31 mitochondrial variants with type 2 diabetes: The Strong Heart Family Study. Y. Zhu, E. T. Lee, S. A. Cole, K. Haack, L. G. Best, B. V. Howard, J. Zhao.

2205W   RNA sequencing of human adipose tissue identifies allele-specific expression associated with dyslipidemia. M. Alvarez, R. M. Cantor, P. M. Reddy, Y. Hasin, D. Weissglas-Volkov, E. Nikkola, J. Kuusisto, A. J. Lusis, M. Laakso, P. Pajukanta.

2206T   Genes related to CRKL and mouse heart development may act as genetic modifiers to congenital heart disease in human 22q11.2 deletion syndrome. J. Chung, S. E. Racedo, T. Guo, D. M. McDonald-McGinn, E. Zackai, R. J. Shprintzen, B. S. Emanuel, B. Funke, B. E. Morrow.

2207F   Genetic influence of scavenger receptor class B type 1 (SCARB1) on plasma lipid traits in non-Hispanic White Americans. V. Niemsiri, X. Wang, M. M. Barmada, J. E. Hokanson, R. F. Hamman, F. Y. Demirci, M. I. Kamboh.

2208W   Study on the association between APOH variants and thrombophilia. L. Tang, X. Lu, Q. Wang, J. Yu, X. Jian, T. Guo, H. Wang, H. Liu, Y. Hu.

2209T   APOE p.Leu167del mutation in familial hypercholesterolemia. Z. Awan, H. Choi, N. Stitziel, I. Ruel, R. Husa, M. H. Gagnon, R. H. Wang, N. Seidah, S. Kathiresan, J. Genest.

2210F   Role of Titin gene variants in human dilated cardiomyopathy. R. L. Begay, S. L. Graw, G. Sinagra, M. Merlo, D. Slavov, G. Barbati, A. Di Lenarda, X. Zhu, L. Mestroni, M. Taylor.

2211W   Desmosomal and titin gene variants in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlations. F. Brun, C. Barnes, G. Sinagra, D. Slavov, G. Barbati, X. Zhu, R. Begay, S. Graw, B. Pinamonti, E. Salcedo, M. Taylor, L. Mestroni, Familial Cardiomyopathy Registry.

2212T   Burden of rare variants in PON is associated with ischemic stroke. D. S. Kim, D. R. Crosslin, P. L. Auer, A. A. Burt, A. S. Gordon, C. E. Furlong, J. F. Meschia, M. Nalls, U. Peters, S. S. Rich, D. A. Nickerson, G. P. Jarvik, NHLBI Exome Sequencing Project.

2213F   The spectrum and prevalence of genetic background noise in patients with arrhythmogenic (right ventricular) cardiomyopathy. T. T. Koopmann, S. Walker, G. Kaur, S. W. Scherer, C. R. Marshall, R. M. Hamilton.

2214W   Copy number variants in patients with abdominal aortic aneurysms. D. Majoor-Krakauer, K. M. van de Luijtgaarden, H. J. M. Verhagen, G. C. M. Huijbregts, L. Koster, A. M. Bertolli Avella, H. B. Beverloo, L. J. C. M. van Zutven.

2215T   Whole genome sequencing of families with early-onset myocardial infarction. A. Mehta, N. Schnetz-Boutaud2, D. J. Van Booven, L. Wang, Z. Liu, N. Vasudeva, M. A. Pericak-Vance1, J. L. Haines, G. W. Beecham.

2216F   Exome sequencing identifies a novel candidate gene, NRG1, for serum cholesterol levels in Mexicans. E. Nikkola, M. Alvarez, M. V. P. Linga Reddy, A. Ko, D. Weissglas-Volkov, C. Gutierrez-Cirlos, L. Riba, M. L. Ordońez Sánchez, Y. Segura Kato, T. Tusie-Luna, C. Aguilar-Salinas, P. Pajukanta.

2217W   Clinical presentation and functional characterization of a c.532+1G>A splice site mutation in CASQ2 in a patient with catecholaminergic polymorphic ventricular tachycardia. K. Patel, M. Delio, T. V. McDonald, C. Montagna, B. Morrow.

2218T   Survival is determined by mutation type and molecular mechanism in Ehlers-Danlos syndrome type IV. M. G. Pepin, U. Schwarze, D. Leistritz, M. Liu, P. H. Byers.

2219F   Genomic analysis of long QT syndrome in Indian cohort. S. F. Qureshi, C. Narasimhan, A. Ali, A. Venkateshwari, K. Thangaraj, P. Nallari.

2220W   Novel sarcomeric gene variations in hypertrophic cardiomyopathy patients of Indian cohort. A. Rangaraju, M. L. Satyanarayana, C. Narasimhan, P. Nallari.

2221T   A family-based whole genome sequencing study to identify genetic determinants of platelet hyper-aggregation following aspirin in African Americans at high risk for coronary artery disease. M. A. Taub, L. R. Yanek, I. Ruczinski, L. Huang, D. M. Becker, L. C. Becker, R. A. Mathias, GeneSTAR Research Program.

2222F   The molecular dissection of familial dilated cardiomyopathy. J. M. Taylor, S. L. Reid, J. Hayesmoore, J. Woodley, K. McGuire, K. Thomson, E. Blair, H. Watkins, A. Seller.

2223W   Novel homozygous missense mutations in the SLC2A10 gene in a Turkish pediatric patient with arterial tortuosity syndrome. S. G. Temel, O. Bostan, D. Proost, L. Van Laer, E. Cil, B. Loeys.

2224T   Mutation detection in aortopathy and other vasculopathies complicating hereditary disorders of connective tissue by next-generation sequencing. J. Vandrovcova, R. A. Weerakkody, J. Biggs, P. J. Norsworthy, C. Neuwirth, L. Game, A. Vandersteen, F. M. Pope, N. J. Cheshire, T. J. Aitman.

2225F   New frame-shift deletion in EMD gene causes Emery-Dreifuss muscular dystrophy with severe cardiomyopathy required heart transplantation. E. Zaklyazminskaya, O. Blagova, M. Yakovleva, V. Rumyantseva, A. Nedostup, D. Shumakov, S. Dzemeshkevich.

2226W   Assessment of the enrichment for rare coding variants in 16 related cases of fibromuscular dysplasia. N. Bouatia-Naji, R. Kiando, P.-F. Plouin, X. Jeunemaitre.

2227T   Resequencing of renin-angiotensin-aldosterone-system genes identifies rare variants associated with blood pressure salt-sensitivity: The GenSalt study. T. N. Kelly, J. E. Hixson, L. C. Shimmin, Q. Zhao, D. Gu, J. He.

2228F   Whole exome sequencing in familial calcific aortic valve stenosis. S. Le Scouarnec, C. Dina, F. Simonet, C. Scott, H. Le Marec, V. Probst, M. Hurles, N. Carter, T. Le Tourneau, J. J. Schott.

2229W   Identification and characterisation of a novel gene for cardiomyopathy. D. Phelan, G. Wilson, K. Pope, G. Gillies, J. Sim, M. Bahlo, P. Hickey, C. Bromhead, P. James, D. du Sart, M. Delatyki, R. Leventer, D. Amor, P. Lockhart.

2230T   Identification of a single nucleotide polymorphism variant in TYRO3 associated with coronary artery disease risk in the ClinSeq® study. H. Sung, B. Suktitipat, K. Lewis, D. Ng, S. G. Gonsalves, J. C. Mullikin, L. G. Biesecker, A. F. Wilson, NISC Comparative Sequencing Program.

2231F   Rare variants underlying a common, complex disease: Exome sequencing in early-onset myocardial infarction. H.-H. Won, N. Stitziel, R. Do, NHLBI’s Exome Sequencing Project and Myocardial Infarction Genetics Exome Sequencing Consortium.

2232W   Rare and common exome chip variants are associated with fasting glucose and insulin levels: The CHARGE-S Exome Chip and Sequencing Study. J. Wessel, B. Cornes, S. Wang, R. Jensen, P. An, L. Lange, E. Lange, M. Nalls, J. Wilson, B. Cade, Y. Lu, R. Loos, V. J. Gudnason, J. Pankow, S. Willems, C. van Duijn, L. Bielak, X. Guo, L. Rasmussen-Torvik, M. Province, I. Borecki, J. Dupuis, J. Rotter, D. Siscovick, M. Goodarzi, J. Meigs, CHARGE Consortium.

2233T   Novel dilated cardiomyopathy mutations identified by whole exome sequencing. N. Chami, R. Tadros, M. Beaudoin, K. Sin Lo, L. Robb, F. Lemarbre, M. Talajic, G. Lettre.

2234F   Whole exome sequencing of a large cohort of patients with congenital heart disease in the Quebec founder population. C. Preuss, M. Capredon, C. Prive, J.-C. Grenier, M. Samuels, P. Chetaille, P. Awadalla, G. Andelfinger.

2235W   A comprehensive association study of APOE-C1-C4-C2 gene cluster variation with plasma lipoprotein traits in U.S. whites. Z. H. Radwan, X. Wang, F. Waqar, J. E. Hokanson, R. F. Hamman, M. M. Barmada, F. Y. Demirci, M. I. Kamboh.

2236T   Whole genome sequencing in African American families to identify genetic determinants of extreme obesity. L. Yanek, M. Taub, I. Ruczinski, L. Huang, D. Vaidya, L. Becker, D. Becker, R. Mathias, The GeneSTAR Research Program.

2237F   TGFBR1 mutations in a British cohort of thoracic aortic aneurysm and dissection patients. J. A. Aragon-Martin, A. M. Mohamed, A. Wan, A. Saggar, M. Jahangiri, A. H. Child.

2238W   RNAseq analysis of congenital heart defects. D. M. McKean, D. S. Herman, A. G. Bick, D. C. Christodoulou, S. R. DePalma, J. M. Gorham, J. Homsy, J. D. Jiang, J. D. Overton, H. Wakimoto, S. Zaidi, R. E. Breitbart, W. K. Chung, R. P. Kim, O. Toka, R. P. Lifton, C. E. Seidman, J. G. Seidman, Pediatric Cardiac Genomic Consortium.

2239T   Novel rare coding variants underlie blood lipid levels in the population: An exome array association study in 55,000 whites and blacks. G. M. Peloso, on behalf of CHARGE Lipids Working Group.

2240F   Serum 25 (OH) D deficiency, cardiovascular disease and APOE genotypes: Increased 25 (OH) D status in APOE ε4 carriers does not protect from cardio-metabolic risk. D. Sanghera, H. Finley, P. Natt, A. Subramanian, P. Blackett.

2241W   African ancestry is associated with hypertensive cardiomyopathy in Brazilian patients with heart failure. C. Fridman, M. Cardena, A. Ribeiro-dos-Santos, S. Santos, A. Mansur, A. Pereira.

2242T   Genetic evaluation in cardiac neurodevelopmental clinic: Diagnosis and health care management. P. C. Goldenberg, A. Parrott, B. J. Adler, J. Anixt, K. Mason, B. S. Marino.

2243F   Incidence of aortic root dilatation in patients with 22q11 deletion: The 3-year experience of a VCF specialty clinic. C. B. Hills, S. L. Dugan, M. E. Pierpont, J. D. Sidman.

2244W   Identical adolescent twins with progressive thoracic aortic aneurysm, recurrent dissection and ACTA2 mutations. R. B. Hinton, A. Shikany, S. M. Ware.

2245T   Erythrocyte sedimentation rate in ischemic stroke and its relation with stroke risk factors. A. Kaur, A. Uppal, K. Kaur.

2246F   Alpha cardiac actin mutation co-segregates with hypertrophic and dilated cardiomyopathy as well as being associated with conduction disease. J. McGaughran, L. Hunt, M. Christiansen, J. Atherton.

2247W   Cumulative risks for thoracic aortic and other vascular diseases associated with ACTA2 mutations. E. S. Regalado, R. E. Lasky, D. Guo, T. A. Bensend, G. Arno, A. Child, T. Morisaki, D. Liang, D. M. Milewicz.

2248T   Immunohistochemical study of lysosomal cathepsin A deficient mouse model shows accumulation of vasoactive peptides in brain. V. Seyrantepe, S. C. Ozturk, Z. Timur, S. Akyildiz, O. Ozdemir.

2249F   The yield of clinical genetic testing for isolated left ventricular noncompaction. A. R. Shikany, A. S. Parrott, S. Ware, E. M. Miller.

2250W   Causative analysis of markers related to PR interval properties and atrial fibrillation after cardiac surgery. M. I. Sigurdsson, J. Muehlschlegel, A. Fox, M. Heydarpour, P. Lichtner, T. Meitinger, C. Collard, S. Shernan, S. C. Body.

2251T   Clinical and mutational spectrum in patients with cardiac glycogenosis related to mutations in the PRKAG2 gene. J. Thevenon, G. Laurent, P. Charon, P. Laforęt, A. Millaire, D. Klug, L. Gouya, C. A. Maurage, S. Kacet, J. C. Eicher, X. Jeunemaitre, M. Desnos, E. Bieth, P. Bouvagnet, D. Duboc, L. Martin, P. Réant, F. Picard, C. Bonithon-Kopp, E. Gautier, C. Binquet, C. Thauvin-Robinet, J. E. Wolf, L. Faivre, P. Richard.

2252F   Genetic profiling supports the causal role of type 2 diabetes, and fasting insulin and glucose in cardiovascular diseases. E. Tikkanen, M. Pirinen, A. S. Havulinna, V. Salomaa, S. Ripatti.

2253W   Left ventricular non-compaction, Ebstein’s anomaly and autosomal dominant polycystic kidney disease: A novel association and review of the vascular features of ADPKD. L. Zahavich, A. Dipchand, S. Bowdin.

2254T   Identification of copy number variations in patients with isolated conotruncal heart defects: A family trio study. J. Arteaga-Vazquez, A. Aguayo, Y. Svyryd, G. Vargas, J. E. Calderon, C. Zamora, O. Mutchinick.

2255F   Identification of global methylation markers for myocardial infarction in males. J. M. Devaney, B. T. Harmon, E. P. Hoffman, S. E. Epstein.

2256W   Evaluation of the familiality of cardiovascular diseases among patients in a large healthcare system. S. Knight, B. Horne.

2257T   Genome-wide linkage and positional association study of blood lipid phenotypes: The GenSalt study. C. Li, J. E. Hixson, L. C. Shimmin, D. C. Rao, D. Gu, J. He, T. N. Kelly.

2258F   Genome-wide linkage and regional association study of blood pressure response to cold pressor test in Chinese: The GenSalt study. X. Yang, T. N. Kelly, X. Wu, J. E. Hixson, J. Chen, J. Cao, J. Li, L. C. Shimmin, J. Huang, D. C. Rao, J. He, D. Gu.

2259W   Whole genome expression profile of calcified bicuspid and tricuspid aortic valves. S. Guauque-Olarte, N. Gaudreault, P. Pibarot, P. Mathieu, Y. Bossé.

2260T   Peripheral blood microRNA profiles are associated with cardiometabolic disease. L. C. Kwee, W. E. Kraus, U. Hidefumi, H. Toyoshiba, T. Andou, E. R. Hauser, S. G. Gregory, J. Bain, M. Muehlbauer, R. Urquhart, C. B. Newgard, S. H. Shah.


Therapy for Genetic Disorders

 

2261T   Dynamics of HSPC subtypes in non-human primates revealed by a decade-long clonal tracking study. S. Kim, N. Kim, A. Presson, M. E. Metzger, G. M. Crooks, D. An, R. E. Donahue, I. S. Y. Chen.

2262F   Long term outcome and success of liver transplantation in patients with progressive familial intrahepatic cholestasis: Is there an association between genotype and outcome? S. M. Herbst, J. Vermehren, M. Melter, U. Hehr.

2263T   First U.S. orthotopic liver transplantation for intractable acute intermittent porphyria. A. Ludtke, M. Balwani, L. U. Liu, H. Naik, M. Yasuda, A. Arvelakis, C. Yu, S. S. Florman, R. J. Desnick.

2264F   Creation of a new mouse model for the mRNA splicing disease familial dysautonomia. E. Morini, P. Dietrich, I. Dragatsis, M. Salani, F. Urbina, S. A. Slaugenhaupt.

2265T   Phosphatidylserine: A potential gene modifying therapy for familial dysautonomia? M. Salani, L. Norcliffe-Kaufmann, J. Martinez, E. Morini, F. Axelrod, S. Slaugenhaupt.

2266F   Inhibition of retinoic acid signaling rescues inner-ear defects in a mouse model of CHARGE syndrome. J. M. Skidmore, E. A. Hurd, A. Saiakhova, D. L. Swiderski, E. D. Sperry, P. S. Scacheri, Y. Raphael, D. M. Martin.

2267T   Myhre syndrome-causing SMAD4 mutations result in disorganization of extracellular matrix that is corrected by losartan treatment. P. Piccolo, P. Mithbaokar, V. Sabatino, J. Tolmie, D. Melis, M. C. Schiaffino, M. Filocamo, G. Andria, N. Brunetti-Pierri.

2268F   Tumor-associated macrophages in neurofibromatosis. C. Prada, E. Jousma, T. Rizvi, J. Wu, S. Dunn, N. Ratner.

2269T   Oligotherapeutic strategies for the treatment of Friedreich’s ataxia. F. Ozsolak, D. Jun Li, D. Parekh, D. Knowlton, M. Wysk, R. Subramanian, J. Barsoum.

2270F   Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47, XXY syndrome at 9 years of age. C. A. Samango-Sprouse, E. Stapleton, C. Sprouse, T. Sadeghin, F. L. Mitchell, A. L. Gropman.

2271T   Prenatal therapy in developmental disorders: Drug targeting via intra-amniotic injection to treat X-linked hypohidrotic ectodermal dysplasia. K. Hermes, P. Schneider, P. Kreig, A. Dang, K. Huttner, H. Schneider.

2272F   A novel, selective and orally-available glucosylceramide synthase inhibitor for substrate reduction therapy of Fabry disease. J. Marshall, K. Ashe, E. Budman, D. Bangari, J. Nietupski, R. J. Desnick, R. K. Scheule, J. P. Leonard, S. H. Cheng.

2273T   Successful pregnancy and lactation in a woman with mucopolysaccharidosis type I treated with laronidase. Y. Xue, M. Castorina, D. Antuzzi, C. Sung, S. Richards, G. Cox.

2274F   ENCORE: A randomized, controlled, open-label non-inferiority study comparing eliglustat to imiglucerase in Gaucher disease type 1 patients on enzyme replacement therapy who have reached therapeutic goals. M. Balwani, T. M. Cox, G. Drelichman, R. Cravo, T. Burrow, A. M. Martins, E. Lukina, B. Rosenbloom, L. Ross, J. Angell, A. C. Puga.

2275T   The adverse event profile of eliglustat for the treatment of Gaucher disease type 1: Results from a pooled analysis of four trials. R. Mankoski, M. J. Peterschmitt, A. C. Puga, G. F. Cox, S. Marulkar, J. Angell, B. Gaemers, L. Ross.

2276F   ENGAGE: A phase 3, randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in adults with Gaucher disease type 1: 9 month results. S. Packman, D. Amato, M. Dasouki, G. Pastores, S. Assouline, M. Balwani, P. K. Mistry, S. Shankar, M. J. Peterschmitt.

2277T   Translating ManNAc into a novel therapeutic agent for patients with GNE myopathy. F. V. Celeste, L. Latham, J. DeDios, C. Ciccone, C. Robinson, J. McKew, M. Huizing, W. A. Gahl, N. Carrillo-Carrasco.

2278F   Evaluation of computed tomography in vivo to assess the therapeutic potential of cystine analogs as inhibitors of cystine stone formation in Slc3a1 knockout mice. A. Sahota, J. Parihar, M. Yang, D. Adler, W. Kim, D. Gordon, J. A. Tischfield.

2279T   Pharmacologic inhibition of cytosolic translation offers a novel therapeutic approach for mitochondrial respiratory chain disease. M. J. Falk, M. Peng, M. Tsukikawa, J. Baur, Z. Zhang, D. Gasser.

2280F   Drug screening using the dystroglycan null zebrafish. G. Kawahara, J. Widrick, V. Gupta, J. Myer, M. Gasperini, A. Beggs, L. Kunkel.

2281T   Genetic and pharmacological reduction of ER stress rescues glaucoma in a murine model of glucocorticoid-induced glaucoma. G. Zode, A. Sharma, X. Lin, C. Searby, K. Bugge, A. Clark, V. Sheffield.

2282F   Sildenafil citrate results in upregulation of heme oxygenase 1 and alleviation of symptoms in the mdx5cv mouse model of Duchenne muscular dystrophy. M. Gasperini, G. Kawahara, J. Widrick, M. Alexander, L. Kunkel.

2283T   Developing small molecule inhibitors of p97/VCP disease mutants for neurodegenerative diseases. T.-F. Chou, C. C. Weihl, R. J. Deshaies.

2284F   Rho kinase inhibition therapy for cerebral cavernous malformations. D. A. Marchuk, D. A. McDonald, R. Shenkar, C. Shi, C. J. Gallione, C. Austin, A. G. Mikati, I. A. Awad.

2285T   Development of a high-throughput screen for mRNA splicing modulators of IKBKAP. F. Urbina, M. Nilbratt, E. Morini, M. Salani, S. Slaugenhaupt.

2286F   Paradigm shift for the treatment of cognitive deficits in Down syndrome: A novel drug treatment rescues hippocampal deficits in the Ts65Dn mouse. J. R. Korenberg, P. West, K. Wilcox, G. Smith, R. Kesner.

2287T   Sorbent therapy of erythropoietic protoporphyria. P. Tishler.

2288F   Fusion with angiopep-2 to create proteins that cross the blood-brain barrier and are taken up into cells. J. E. Lachowicz, M. Demeule, A. Regina, D. Boivin, A. Larocque, J.-P. Castaigne.

2289T   Novel method for oral administration of ERT for the treatment of Gaucher disease. M. Golembo, S. Velitzki, R. Chertkoff, E. Brill-Almon, Y. Shaaltiel.

2290F   Preliminary findings evaluating safety and efficacy of recombinant human N-acetlygalactosamine-6-sulfatase in pediatric patients less than 5 years of age with mucopolysaccharidosis IVA (Morquio A syndrome). C. Haller, S. A. Jones, P. Harmatz, M. Bialer, R. Parini, K. Martin, P. Farmer, P. Slasor.

2291T   Survival rates and timing of initiation of treatment with enzyme replacement therapy among patients with classic infantile-onset Pompe disease enrolled in the Pompe Registry. P. S. Kishnani, S. Jones, A. van der Ploeg, E. Mengel, B. Byrne, A. Vellodi, N. Leslie, S. Shankar, P. Tanpaiboon, D. W. Stockton, J. B. Hennermann, Z. Devecseri, J. Kempf, J. Keutzer, Y.-H. Chien.

2292F   PRX-102: An efficient plant expressed ERT for Fabry disease. A. Paz, T. Kizhner, A. Schulman, M. Golembo, E. Brill-Almon, Y. Shaaltiel.

2293T   The influence of a polymorphism in the gene encoding angiotensin converting enzyme on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa. R. C. Baek, R. E. Palmer, R. J. Pomponio, A. J. Mcvie-Wylie.

2294F   Polymeric nanocarriers as vehicles for the treatment of lysosomal storage diseases. M. Latorre-Esteves, A. Román.

2295T   Augmenting glucocerebrosidase activity in the CNS as a therapeutic strategy for Gaucher-related synucleinopathies. P. Sardi, J. Clarke, C. Viel, M. Chan, C. Treleaven, J. Bu, L. Sweet, M. Passini, J. Dodge, L. Stanek, S. Cheng, L. Shihabuddin.

2296F   Permanent genetic modification of dividing cells using episomally maintained S/MAR DNA vectors and the correction of a cancer phenotype in renal tumour cells. R. Harbottle, S. P. Wong.

2297T   Brain-directed recombinant AAVrh10-ATP7A plus subcutaneous copper histidine extends lifespan in the mo-br model of Menkes disease. E. Y. Choi, M. R. Haddad, K. Patel, S. G. Kaler.

2298F   Genotoxicity following AAV gene therapy for methylmalonic acidemia in mice. R. J. Chandler, A. A. Ashok, G. K. Varshney, M. C. LaFave, W. Wu, V. J. Hofffmann, A. G. Elkahloun, S. M. Burgess, C. P. Venditti.

2299T   Developing resources to alleviate muscle atrophy in FSHD by genome engineering. S. Das, B. P. Chadwick.

2300F   Gene therapy for mucopolysaccharidosis VII: Evaluation of intrathecal rAAV vectors in the canine model. B. L. Gurda, P. Wang, P. Bell, J. Bagel, T. Sikora, P. O'Donnell, Y. Zhu, H. Yu, T. Ruane, R. Calcedo, M. Casal, C. H. Vite, K. P. Ponder, J. M. Wilson, M. E. Haskins.

2301T   Translational fidelity of intrathecal delivery of scAAV9-SMN1 for spinal muscular atrophy. M. A. Passini, J. Bu, A. M. Richards, C. M. Treleaven, C. R. O’Riordan, A. Scaria, A. P. Kells, L. Samaranch, W. San Sebastian, T. Federici, M. S. Fiandaca, N. M. Boulis, K. S. Bankiewicz, L. S. Shihabuddin, S. H. Cheng.

2302F   Treatment of MFRP (Membrane frizzled-related protein)-related degeneration in patient-specific stem cells and a preclinical mouse model. Y. Li, Y. T. Tsai, C. W. Hsu, W. H. Wu, S. H. Tsang.

2303T   The combined use of cis-acting genetic elements to enhance non-viral plasmid stability in mammalian cells. B. Abbas, M. A. K. Abdalla, M. El-Mogy, B. Lam, V. Misic, Y. Haj-Ahmad.

2304F   Expression of human GNE through adeno-associated virus mediated therapy delays progression of myopathy in the GNE myopathy mouse model. M. C. Malicdan, T. Okada, S. Takeda, F. Funato, M. Huizing, I. Nonaka, Y. K. Hayashi, Z. Argov, I. Nishino, S. Mitrani-Rosenbaum, S. Noguchi.

2305T   Antisense therapy for genetic disorders. T. R. Grossman.

2306F   Acute hepatic porphyrias: Inhibition of hepatic ALAS1 with an RNAi therapeutic provides effective prevention and treatment of induced acute attacks in acute intermittent porphyria mice. M. Yasuda, L. Gan, C. Yu, W. Querbes, A. Liebow, K. Fitzgerald, R. J. Desnick.

2307T   Silencing mutant Htt by AAV-mediated expression of RNAi ameliorates disease manifestations in the YAC128 mouse model of Huntington's disease. L. M. Stanek, P. S. Sardi, B. Mastis, A. Richards, S. H. Cheng, L. S. Shihabuddin.

2308F   Hematopoeitic-stem-cell based therapy for HIV disease. J. Bodor, J. Chalupnikova, K. Pavelcova, J. Jencik, R. Klubal, gp120 Consortium.

2309T   Lipid storage and impaired function in iPSC and monocyte -derived Gaucher macrophages are reversed with a non-inhibitory chaperone. E. Sidransky, E. Aflaki, N. Tayebi, B. Stubblefield, E. Maniwang, G. Lopez, E. Goldin, S. Patnaik, J. Marugan.

2310F   MicroRNA-486 overexpression delays the disease pathology of dystrophin-deficient muscle. M. S. Alexander, J. C. Casar, N. Motohashi, N. M. Vieira, M. J. Gasperini, J. A. Myers, E. A. Estrella, P. B. Kang, F. Shapiro, G. Kawahara, E. Gussoni, L. M. Kunkel.

2311T   Epigenetic upregulation of survival of motor neuron 2 (SMN2) protein by oligonucleotides targeting long non-coding RNA. K. M. Hussey, R. Davey, E. Brand, D. Knowlton, B. Schwartz, R. Subramanian, J. McSwiggen, A. Krieg, J. Keil, H. Cardona, C. DiDonato, J. Barsoum.

2312F   Towards the therapy for Angelman syndrome. L. Meng, A. Award, F. Rigo, A. Beaudet.


Metabolic Disorders

 

2313T   Decoding the biochemistry of Snyder-Robinson syndrome: Using yeast to model the polyamine biosynthetic defect. J. S. Albert, M. K. Chattopadhyay, W. Bone, L. A. Wolfe, W. A. Gahl, C. F. Boerkoel.

2314F   Secondary coenzyme Q10 deficiency in patients with BRAF mutations. E. Trevisson, M. A. Desbats, C. Cerqua, M. Doimo, A. Casarin, C. Santos-Ocaňa, P. Navas Lloret, L. Salviati.

2315T   Fine-mapping of the Atp7a promoter deletion and biochemical characterization in the mottled-dappled mouse model of Menkes disease. M. R. Haddad, K. Patel, P. Sullivan, D. S. Goldstein, J. A. Centeno, S. G. Kaler.

2316F   Defective autophagy limits IL-1 beta production by eliminating active inflammasomes in human Gaucher macrophages. E. Aflaki, N. Moaven, B. Stubblefield, G. Lopez, E. Sidransky.

2317T   Resistin increases the expression of aggrecanases in human chondrocytes. K. O. Yaykasli, E. Yaykasli, E. Kaya, M. Ozsahin, M. Uslu.

2318F   Small molecule inhibition of glucosylceramide synthase affects bone remodeling in mice. A. J. Leger, Z. Luo, I.-H. Wu, N. S. Yew, S. Ryan, K. Malley, L. Sweet, S. Schiavi, T. K. Sampath, S. H. Cheng.

2319T   Fat mass and obesity-associated (FTO) protein interacts with CamKII and modulates the activity of CREB signaling pathway. L. Lin, P. Jin.

2320F   An infantile case of hepatomegaly, lactic acidosis, hypoglycemia, ketosis, and hyperlipidemia of unknown etiology. Y. Watanabe, Y. Seki, T. Yanagi, T. Mizuochi, T. Takeuchi, J. Iwamoto, M. Yoshino, S. Watanabe, T. Inokuchi, S. Yano, K. Yoshiura, T. Matsuishi.

2321T   Delineation of renal-independent disease mechanism underlying hyperphosphatemic familial tumoral calcinosis caused by GALNT3 mutations. S. G. Ziegler, Y. Yang, D. Malhotra, M. T. Collins, N. Bhattacharyya, R. I. Gafni, W. A. Gahl, H. C. Dietz.

2322F   The mitochondrial F-box protein FBXL4 is necessary for efficient mitochondrial respiration. C. A. Biagosch, X. Gai, D. Ghezzi, M. A. Johnson, H. E. Shamseldin, T. B. Haack, A. Reyes, M. Tsukikawa, C. A. Sheldon, S. Srinivasan, M. Gorza, L. S. Kremer, T. M. Strom, E. Place, S. Vidoni, L. Wong, M. Salih, E. Al-Jishi, C. P. Raab, F. Furlan, J. A. Mayr, V. Konstantopoulou, M. Huemer, T. Meitinger, P. Freisinger, W. Sperl, F. S. Alkuraya, M. J. Falk, M. Zeviani, H. Prokisch.

2323T   Mitochondrial dysfunction in a patient with a mutation in the MRPP1 gene encoding a subunit of the mitochondrial RNAseP complex. M. D. Metodiev, Z. Assouline, M. Rio, N. Bahi-Buisson, A. Munnich, A. Rötig.

2324F   Gaucher disease: Clinical, biochemical and histopathological effects of 11 years of enzyme therapy in a chronic neuronopathic variant. Y. Sun, T. A. Burrow, W. Zhang, B. Quinn, D. P. Witte, L. Bailey, C. E. Prada, G. A. Grabowski.

2325T   Intracellular itinerary of normal and mutant ATP7A in polarized motor neurons. L. Yi, S. G. Kaler.

2326F   Characterization of an ACAD10 deficient mouse model: Pathological and biochemical analyses. K. Kormanik, D. El Demellawy, A.-W. Mohsen, A. Karunanidhi, M. Reyes-Mugica, J. Vockley.

2327T   Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy. K. Yamada, M. Naiki, N. Ochi, Y. Kato, J. Purevsuren, R. Kimura, D. Fukushi, S. Hara, Y. Yamada, T. Kumagai, S. Yamaguchi, N. Wakamatsu.

2328F   Thiamine pyrophosphate deficiency secondary to TPK-1 mutation presenting as Leigh’s disease: Diagnosis and management within a sibling pair. J. l. Fraser, S. Yang, A. Vanderver, T. Chang, L. Cramp, K. Chapman, G. Vezina, P. Smpokou, U. Lichter-Konecki, D. J. Zand.

2329T   Deficiency of the mitochondrial phosphate carrier presenting with myopathy or cardiomyopathy: Two new cases. L. C. Pyle, E. J. Bhoj, M. Li, R. C. Ahrens-Nicklas, C. Ficicioglu, N. Sondheimer, M. Yudkoff.

2330F   Use of next-generation sequencing in mitochondrial disorders: Whole mitochondrial genome analysis. S. Seneca, K. Vancampenhout, G. Van Dyck, J. Smets, A. Van Lander, R. Van Coster, D. Daneels, W. Lissens, L. De Meirleir.

2331T   Variability in the level of erythrocyte glucose uptake in two patients of Glut1 deficiency syndrome with the same SLC2A1 mutation. N. Ishihara, J. Natsume, K. Yanagihara, Y. Fukuhara, K. Yamada, Y. Yamada, Y. Azuma, T. Negoro, N. Wakamatsu, K. Watanabe.

2332F   Suspected mitochondrial myopathies in the era of genomic medicine. A. M. Atherton, S. F. Kingsmore, B. A. Heese, S. E. Soden, C. J. Saunders, E. G. Farrow, L. Willig, N. A. Miller, L. D. Smith.

2333T   Mucopolysaccharidosis IVA (Morquio A) molecular analysis: A review of the advantages and limitations of molecular testing of GALNS in the diagnosis of Morquio A. M. Hegde, M. Al Sayed, A. Brusius-Facchin, H. Church, M. J. Coll, M. Fietz, L. Gort, F. Kubaski, D. K. Jin, L. Lacerda, S. Leistner-Segal, A. Morrone, S. Pajares, L. Pollard, I. Ribeiro, F. J. Tsai, K. L. Tylee, N. Miller.

2334F   Practical strategies for the identification of common mutations in mucopolysaccharidosis IVA patients. F. Kubaski, A. C. Brusius-Facchin, P. F. V. Medeiros, R. Giugliani, S. Leistner-Segal.

2335T   Oligosaccharides as biomarkers for mucopolysaccharidosis IVA. G. Asif, L. Arthur, E. Woolley, X. Li, M. He.

2336F   Biochemical, molecular, and clinical presentations of 3 patients with X-linked epsilon-trimethyllysine hydroxylase deficiency, a disorder of carnitine biosynthesis associated with autism spectrum disorder. M. Comeaux, C. Schaaf, A. Petel, Y. Yang, F. Scaglia, A. Beaudet, S. Elsea, Q. Sun.

2337T   Detection of 4-hydroxy-2-oxoglutarate aldolase metabolites in urine for the diagnosis and monitoring of primary hyperoxaluria type III. L. Hasadsri, P. Loken, D. Gavrilov, D. Matern, K. Raymond, P. Rinaldo, S. Tortorelli, D. Oglesbee.

2338F   Unraveling mitochondriopathies by exome sequencing. L. S. Kremer, T. B. Haack, R. Kopajtich, B. Haberberger, C. A. Biagosch, T. Wieland, T. Schwarzmayr, A. Walther, T. M. Strom, J. A. Mayr, W. Sperl, M. Zeviani, P. Freisinger, T. Klopstock, R. W. Taylor, A. Rötig, A. Munnich, U. Ahting, M. B. Hartig, J. A. M. Smeitink, G. F. Hoffmann, A. Lombes, T. Meitinger, H. Prokisch.

2339T   Diagnosis of adrenoleukodystrophy using liquid chromatography-mass spectrometry. M. Kosuga, H. Nakajima, K. Kida, J. Fujimoto, T. Okuyama.

2340F   Creatine deficiency due to targeted disruption of alanine:glycine amidinotransferase leads to learning and memory deficits. W. Craigen, Y. Lai, M. Costa-Mattioli, L. Stoica, P. J. Zhu, L. Mbye.

2341T   Somatic mosaicism with reversion to wild type in congenital disorder of glycosylation, type IIb. H. Vega, L. Wolfe, D. R. Adams, M. He, S. Rosenzweig, W. A. Gahl, C. Boerkoel.

2342F   The clinical and mutation spectrum of Korean patients with urea cycle disorders. H. W. Yoo, B. H. Lee, G. H. Kim, J. M. Kim, Y. M. Kim, J. H. Kim.

2343T   Leigh syndrome and myoclonic epilepsy caused by novel mutation in AIMF1 gene. T. Honzik, A. Vondrackova, V. Stranecky, M. Rodinova, H. Kratochvilova, H. Hansikova, P. Klement, M. Magner, S. Mazurova, J. Zeman, M. Tesarova.

2344F   Reduced levels of ATP7A protein in a male child with subtle features of Menkes disease in the absence of ATP7A mutation suggest a novel defect in transcriptional regulation associated with a unique disorder of copper metabolism. K. Patel, G. Golas, D. Adams, C. Tifft, C. S. Holmes, D. S. Goldstein, L. Yi, W. A. Gahl, S. G. Kaler.

2345T   Mutational analysis of ATP7B gene in 19 Vietnamese patients with Wilson disease. H. Cam Tu, T. Thinh Huy, T. Tue Nguyen, P. Le Anh Tuan, T. Van Thanh, T. Van Khanh.

2346F   Intellectual disability and movement disorder caused by a homozygous mutation in N-glycanase (NGLY1) gene: A novel disorder of glycoprotein metabolism. M. A. Jones, C. da Silva, A. Bibb, S. Warren, M. He, M. R. Hegde, M. J. Gambello.

2347T   Comprehensive molecular investigation of the pathologial effects of Menkes disease missense mutations. L. B. Mřller, T. Skjřrringe, S. S. Thorborg.

2348F   The effect of homozygous deletion of BBOX1 gene on carnitine level and fatty acid beta-oxidation. A. Rashidi-Nezhad, S. Talebi, S. M. Akrami, A. Reymond.

2349T   Glycerol kinase transgenic mice have increased risk for obesity. C. Ho, A. Badjatiya, K. M. Dipple.

2350F   Novel heterozygous and homozygous mutations in the gap junction protein gamma-2 (GJC2) gene. G. Hobson, D. Stubbolo, N. Manolakos, V. Funanage.

2351T   Arylsulfatase A deficiency in Thai MLD patients. S. Nujarean, L. Thampratankul, L. Choubtum, D. Wattanasirichaigoon.

2352F   Unexpected findings of hexosaminidase B deficiency in a 39-yr-old asymptomatic female identified during routine carrier screening for Tay-Sachs disease. A. Schneider, R. B. Keep, M. Sobel, J. Liao, C. Yu, R. Kornreich.

2353T   Comprehensive mutation screening of the AGXT gene in patients with primary hyperoxaluria type-1. S. Khaliq, A. Abid, S. Shahid, S. Hashmi, S. Sultan, T. Aziz, S. A. H. Rizvi, S. Q. Mehdi.

2354F   Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy. N. Ajit Bolar, A. V. Vanlander, C. Wilbrecht, N. Van der Aa, J. Smet, B. De Paepe, G. Vandeweyer, F. Kooy, F. Eyskens, E. De Latter, G. Delanghe, P. Govaert, J. G. Leroy, R. Lill, R. Van Coster, L. Van Laer, B. Loeys.

2355T   Genetic variation in a gene involved in glycosphingolipid biosynthesis. O. M. Amaral, A. J. Duarte, E. Pinto, I. Ribeiro, L. Lopes, D. Ribeiro.

2356F   A zebrafish model of cblC disease displays growth retardation that improves with vitamin B12 therapy. N. P. Achilly, J. L. Sloan, K. S. Bishop, M. S. Jones, V. J. Hoffman, R. B. Sood, C. P. Venditti.

2357T   Identification of a novel mutation in the human ARSB gene on chromosome 5q14.1 for muchopolysacharidosis type VI patients in southwest Colombia. M. A. Acosta Aragón, J. R. Lago, F. Barros, A. M. Carracedo Alvarez.

2358F   Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease. A. Aykut, H. Onay, M. Kose, E. Erbas Canda, E. Karaca, M. Coker, F. Ozkinay.

2359T   New dominant ALDH18A1 mutation in two unrelated children with neurodevelopmental delay, cataracts, cutis laxa, and intracranial arterial tortuosity. J. Ganesh, A. E. Lin, I. Sahai, E. H. Zackai, S. Chadwick, T. L. Toler, P. H. Byers, U. Schwarze.

2360F   Molecular characterization of known mutations in congenital adrenal hyperplasia patients (CYP21A2 gene): Genetic and diagnostic implications. R. Khajuria, A. Kumar, D. Pal, U. Sharma, A. Bhansali, R. Walia, R. Prasad.

2361T   Spectrum of hyperhomocysteinemia in the pediatric and adolescent age group with MTHFR genotype in a North Indian cohort. A. Lomash, S. Kumar, S. Kumar Pandey, A. Singh, S. Kumar Polipalli, S. Kapoor.

2362F   A homozygous UQCRC2 mutation causes a neonatal onset metabolic decompensation due to complex III deficiency. N. Miyake, S. Shoji, Y. Goto, N. Matsumoto.

2363T   Assaying interallelic complementation in vivo at the Mut locus with adeno-associated (AAV) viral gene delivery. J. S. Sénac, C. P. Venditti.

2364F   A molecular genetic study of Japanese families of creatine transporter deficiency. T. Wada, M. Tachikawa, S. Ohtsuki, S. Itoh, H. Shimbo, H. Osaka.

2365T   Epidemiological studies of POLG mutations in Polish patients with mitochondrial disease of unknown etiology: Preliminary data. D. Piekutowska-Abramczuk, J. Trubicka, S. Łuczak, P. Kowalski, D. Jurkiewicz, E. Ciara, M. Borucka-Mankiewicz, M. Pelc, M. Krajewska-Walasek, E. Pronicka.

2366F   A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation. G. H. Bruun, T. K. Doktor, B. S. Andresen.

2367T   Patients affected with Fabry disease have an increased prevalence of Raynaud’s phenomenon: An investigation of 222 patients. D. P. Germain, O. I. Atanasiu, A. Cordier, K. Benistan.

2368F   Natural history of gangliosidosis, and therapeutic interventions. J. Utz, R. Zeigler, J. Raymond, P. Karachinski, C. B. Whiltey.

2369T   Biochemical and hematologic laboratory studies in a cohort of patients with Barth syndrome. H. Vernon, R. McClellan, A. Cordova, R. Kelley, Y. Sandlers.

2370F   The emerging natural history of cross-reactive immunologic material-negative infantile Pompe disease patients treated with recombinant human GAA. K. B. Sheets, S. G. Banugaria, S. M. DeArmey, D. S. Bali, C. W. Rehder, P. S. Kishnani.

2371T   Hepatic adaptations during infection: Implications for inborn errors of metabolism. P. McGuire, L. N. Singh, S. Matsumoto, K. Saito, T. N. Tarasenko.

2372F   Distinctive neurocognitive and neuropsychiatric phenotype for mucopolysaccharidosis type I (Hurler-Scheie syndrome) associated with mutation L238Q of the alpha-L-iduronidase gene. A. Ahmed, C. Whitley, R. Cooksley, E. Shapiro.

2373T   Oral manifestations in a patient with infantile onset Pompe disease: Newly recognized findings. L. S. Kehoe, T. Anupama, P. Kantaputra.

2374F   Assessment of bone mineral density by dual energy X-ray absorptiometry in patients with mucopolysaccharidoses. H. Lin, S. Lin, C. Chuang, M. Chen, D. Niu.

2375T   A retrospective review of the natural course of mucopolysaccharidosis VII. A. Montano, N. Lock-Hock, R. Steiner, B. H. Graham, M. Szlago, R. Greenstein, M. Pineda, A. Gonzalez-Meneses, M. Çoker, D. Bartholomew, M. Sands, R. Wang, R. Giugliani, A. Macaya, G. Pastores, A. K. Ketko, F. Ezgü, A. Tanaka, L. Arash, M. Beck, R. E. Falk, K. Battacharya, J. Franco, K. White, G. Mitchell, L. Cimbalistiene, W. S. Sly.

2376F   Cobalamin C disease with fulminant hyperammonemic presentation in the neonatal period. N. S. Abul-Husn, A. C. Yang, C. Yu, H. Chen, G. A. Diaz, J. D. Weisfeld-Adams.

2377T   Molecular analysis of patients diagnosed as cblC. A. Brebner, D. Watkins, D. S. Rosenblatt.

2378F   Glycemic deregulation in congenital central hypoventilation syndrome. F. Moreau, K. Braun, J. Amiel, T. Dery, G. Jedraszak, S. Goudjil, G. Kongolo, H. Trang, P. De Lonlay, M. Mathieu, A. Leke, G. Morin.

2379T   Fabry disease in Northern Ireland. F. J. Stewart, A. Muir, J. McOsker, T. Jardine, A. Wilson, P. McKeown.

2380F   Hepatocerebral mitochondrial DNA depletion syndrome with atypical brain MRI findings due to heterozygote mutations in the MPV17 gene including a novel mutation: clinical, biochemical and molecular analysis. A. Iglesias.

2381T   Genetic associations with neonatal acylcarnitine levels. C. J. Smith, A. M. Momany, S. L. Berberich, J. L. Murray, K. K. Ryckman.

2382F   Presenting optional newborn screening in the context of mandatory newborn screening: The case of Duchenne muscular dystrophy. S. E. Lillie, B. A. Tarini, B. J. Zikmund-Fisher.

2383T   Lysosomal disease newborn screening in Mexican population. J. Navarrete, A. Rivera, A. Limon, E. Covian.

2384F   Enhancing case detection of selected inherited disorders through expanded newborn screening in the Philippines. C. Padilla.

2385T   Hyposialylation in glomerulopathies is mitigated by N-acetylmannosamine therapy. M. Huizing, M. C. Malicdan, P. Leoyklang, O. Okafor, T. Yardeni, M. F. Starost, P. M. Zerfas, Y. Anikster, A. Volkov, B. Dekel, J. B. Kopp, W. A. Gahl.

2386F   Therapeutic hypothermia for hyperammonemic metabolic crises: A pilot study. U. Lichter-Konecki, J. Poeschl, D. Dimmock, S. Baumgart.

2387T   Polymyositis: A common misdiagnosis for late onset Pompe disease. V. Kasturi, S. Jain, V. Juel, P. Kishnani.

2388F   Emerging next-generation therapies for Pompe disease. R. J. Moreland, K. M. Taylor, A. McVie-Wylie, N. P. Clayton, B. M. Wentworth, R. K. Scheule, S. H. Cheng.

2389T   Efficacy of long-term velaglucerase alfa on hematological and visceral parameters in treatment-naïve patients with type 1 Gaucher disease. A. Zimran, I. Kisinovsky, E. A. Lukina, D. Elstein, D. Zahrieh, E. Crombez, P. Giraldo.

2390F   Delivery of α-N-acetyl-glucosaminidase via choroid plexus-directed viral gene therapy as an enzyme replacement in cerebrospinal fluid for Sanfilippo B syndrome. S.-H. Kan, S. Q. Le, M. R. Haddad, E.-Y. Choi, A. Donsante, S. G. Kaler, P. I. Dickson.

2391T   Humoral immune response against enzyme replacement therapy alters enzyme distribution in mucopolysaccharidosis I mice. S. Q. Le, S.-H. Kan, M. Vera, Y. Herskovitz, M. Srour, P. I. Dickson.

2392F   Lysosomal Disease Network. C. B. Whitley, B. Diethelm-Okita, J. R. Utz, J. C. Cloyd, D. C. C. Erickson, E. Shapiro, Investigators of Lysosomal Disease Network.

2393T   The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome. A. El-Hattab, L. Emrick, W. Williamson, W. Craigen, F. Scaglia.

2394F   Phenylbutyrate for therapy of pyruvate dehydrogenase complex deficiency. R. Ferriero, A. Bourton, L. Bonafé, M. Baumgartner, D. Kerr, E. Morava, R. Rodenburg, M. Brivet, N. Brunetti-Pierri.

2395T   A novel mutation in GLUD1 causing hyperinsulinism hyperammonemia in a patient with high density of homozygosity on microarray. J. D. Odom, M. Gieron-Korthals, D. Shulman, P. Newkirk, E. J. Prijoles, A. Sanchez-Valle.

2396F   Pathogenic study of mitochondrial complex I deficiency and Leigh syndrome in Drosophila model. Z. Li, K. Zhang, J. Guan, C. Haueter, H. Sandoval, H. Bellen, B. Graham.

2397T   Long-term follow up of 15 patients with methylmalonic acidemia following solid organ transplantation. J. L. Sloan, I. Manoli, C. P. Venditti.

2398F   Neuroimaging and neuropathology reveal dysmyelination in canine mucopolysaccharidosis I. P. Dickson, J. Provenzale, S. Chen, I. Nestrasil, S.-h. Kan, S. Q. Le, E. Lotshaw, J. Jens, J. Yee, N. M. Ellinwood, M. A. Guzman, C. Vite, V. Kovac, E. G. Shapiro.

2399T   Neuropsychiatric outcomes in PKU patients treated with sapropterin: Results from the randomized, controlled PKU ASCEND (PKU 016) trial. S. Prasad, B. Burton, A. Feigenbaum, M. Grant, R. Hendren, R. Singh, S. Stahl, C. Zhang.

2400F   Effect of globotriaosylceramide on cytokine profile in dendritic cells and monocytes: Consequences for Fabry disease. P. Rozenfeld, P. De Francesco, J. Mucci, R. Ceci.

2401T   Is common mutation in SCO2 associated with reproductive failure in the Polish population? Preliminary study. S. Łuczak, D. Piekutowska-Abramczuk, A. Jezela-Stanek, K. Chrzanowska, M. Kugaudo, A. Cieślikowska, A. Kochański, P. Kowalski, E. Ciara, J. Trubicka, D. Jurkiewicz, M. Pelc, M. Borucka-Mankiewicz, M. Krajewska-Walasek, E. Pronicka.

2402F   Frequency of inherited metabolic diseases in high-risk children in a North Indian tertiary care hospital. S. Attri, A. Patial, P. Kumar, P. Singhi, S. Singhi, S. Sharda, C. Kumari, I. Dwivedi, S. Kapoor, L. Kratz.

2403T   Different combinations of ACADS mutations cause SCAD deficiency in an infant and his mother. A. N. Dang Do, J. Cox, M. Johnson, L. Kratz, T. Wang.

2404F   A formal approach to evaluating the neuropsychiatric manifestations of PKU: Assessing the content validity of ADHD rating scales in phenylketonuria. K. Mooney, S. Prasad, S. Kummer Shaffer, K. S. Gries, P. Auguste, D. Bilder, K. W. Wyrwich.

2405T   The role of innate immune system activation and signaling in vascular disease in the MPS I canine model. M. Vera, S. Q. Le, S. Kan, P. Dickson, R. Wang.

2406F   Defective T-cell function in a mouse model of citrullinemia type I. T. N. Tarasenko, J. Gomez-Rodriguez, P. J. McGuire.


Genetics/Genomics Education

 

2407W   Local and international medical geneticists and genetic counselors collaboration: The first Vietnamese-North American genetics conference in Hanoi, Viet Nam. K. Leppig, M. Laurino, D. Sternen, J. Thompson.

2408W   Making sense of a primary care role in genetics: Views of genetics professionals. J. C. Carroll, S. Morrison, F. A. Miller, B. J. Wilson, J. A. Permaul, J. Allanson.

2409W   A brief curriculum for physician orientation to clinical whole genome sequencing. M. A. Giovanni, J. Krier, J. L. Vassy, D. Lautenbach, R. C. Green, M. F. Murray, for The MedSeq Project.

2410W   Teaching physicians about genomic medicine. I. Maya, l. Basel-Vanagaite, E. Basel-Vanagaite, A. Koifman, D. M. Behar, R. Tomashov-Matar, R. Sukenik-Halevi, A. Reches, M. Shohat.

2411W   Hello Genetics (Alô Genética): A Brazilian strategy to provide guidance and education in genetics to primary health care providers. T. Vieira, D. Nadler, L. Silva, N. Murcia, C. Giugliani, C. Rafaelli, R. Giugliani.

2412W   Experimental and computational biologists: Lessons learned from a transdisciplinary training program. M. A. Fernandez-Altuna, I. Imaz-Rosshandler, A. L. Escobedo-Ramos, M. Mata-Sotres, C. Rangel-Escareńo.

2413W   Human genetic variation: A flipped classroom exercise in cultural competency. K. Tuttle, S. Dasgupta.

2414W   How is high school students’ genomic literacy correlated with their attitudes toward promotion of genomic studies? A comparison with a result of general public survey in Japan. I. Ishiyama, T. Tanzawa.

2415W   Geneticists teaching genetics to New Orleans K-12 schools and universities. F. Tsien, J. Loupe, A. Iyengar.

2416W   Accelerating public awareness of personal genetics. M. E. Gelbart, L. Tomaselli, D. Waring, T. Wu.

2417W   Parents and newborn screening decisions: Empirical assessment of specific educational messages. B. J. Wilson, B. K. Potter, J. C. Carroll, J. Little, D. Castle, D. Avard, P. Chakraborty, S. Craigie, H. Etchegary, L. Lemyre, F. A. Miller, G. A. Wells, J. Millburn, R. Rennicks White, G. Tawagi, M. Walker, CIHR Emerging Team in Genomics in Screening.

2418W   On 30th anniversary of Orphan Drug Act: A review of resources to inform and connect rare disease patients. M. H. Dunkle, J. O'Leary, H. Hyatt-Knorr, M. Snyder, J. Lewis.

2419W   “Will he be bald?” Introducing the general public to the genomic era. M. Kriek, K. Kraaijeveld, H. Sminia, B. Gravendeel, M. Schilthuizen, J. T. den Dunnen.

2420W   Personalized medicine — What do people think? L. Leitsalu, A. Allik, A. Metspalu.

2421W   Vignettes as an aid to deciding about genetic testing. D. Zallen.

2422W   Incorporating bioinformatics into the undergraduate genetics curriculum through an authentic research project. B. V. Bowling, E. D. Strome.

2423W   Integrating authentic research in human genetics into an undergraduate liberal arts curriculum to enhance the pace of rare disease gene discovery for underserved populations. R. Jinks, B. Davis, D. Roberts, E. Rice, K. Brigatti, E. Puffenberger, K. Strauss.

2424W   Inverted curriculum: An online activity replaces in-class lecture to teach regulation of the lactose operon in a general genetics undergraduate classroom. T. Kelson, M. DeWall, S. Minnich, G. Arrizabalaga, J. Anderson, D. Knox.


Ethical, Legal, Social and Policy Issues in Genetics

 

2425W   The research connection: Development of an integrated institutional pediatric research infrastructure as a model framework for multi-institution implementation and collaboration. S. K. Savage, C. M. Clinton, W. A. Wolf, D. M. Margulies.

2426T   Revisiting the role of gamete and embryo donor registries on the transmission of genetic information between donation relatives, in light of the principle of beneficence. V. Couture, M.-A. Dubois, R. Drouin, J.-M. Moutquin, C. Bouffard.

2427W   Participant views of re-consent and broad consent in cancer genetics research. K. Edwards, D. Korngiebel, L. Pfeifer, J. Scott, N. Shridhar, D. Kaufman, D. Bowen, C. Condit.

2428T   Balancing patient privacy while supporting rich and convenient access to clinical genomic data. E. R. Riggs, J. Berg, C. Bustamante, D. M. Church, W. A. Faucett, M. Feolo, D. H. Ledbetter, D. Maglott, C. L. Martin, D. Metterville, J. Mitchell, R. Nussbaum, J. Ostell, S. Plon, H. Rehm, L. Rodriguez, W. Rubinstein, M. Watson, International Collaboration for Clinical Genomics.

2429W   Utility of the X chromosome pattern of inheritance: The identification of close relatives through direct-to-consumer genetic testing. K. Johnston.

2430T   NIH’s approach and expectations for genomic data sharing: The draft NIH Genomic Data Sharing Policy. D. Paltoo, A. Bailey, C. Fomous, K. Langlais, E. Lueketmeier, T. Paine, R. Wise, L. Lyman Rodriguez.

2431W   The potential power of personal genomics in reducing social stereotypes: Attitudinal study and computer animation of results for 4,000 Japanese respondents. T. Kido, M. Swan.

2432T   Investigating the interplay of patients’ hopes and expectations of next-generation sequencing. K. Clift, A. Fiksdal, R. Topazian, A. Kumbamu, J. McCormick.

2433W   Genetic privacy in the European Union — Exploring the impact of the proposed Data Protection Regulations. A. de Paor.

2434T   An evidence-based framework for incidental findings from exome sequencing in the pediatric setting. E. T. DeChene, S. Mulchandani, M. C. Dulik, L. K. Conlin, J. L. Abrudan, B. A. Bernhardt, K. Izumi, S. E. Noon, R. E. Pyeritz, A. Santani, I. F. Slack, C. A. Stolle, A. B. Wilkens, I. D. Krantz, N. B. Spinner.

2435W   ELSI as applied to non-invasive prenatal testing. M. W. Leach.

2436T   Research policy of the Genome Science Project in Japan. J. Minari, K. Kato.

2437W   Effect of using a family history tool on communication with family and health care providers. C. Wang, A. Sen, M. Plegue, M. Ruffin, S. O'Neill, W. Rubinstein, L. Acheson, for Family Healthware Impact Trial Group.

2438T   Mapping the next-generation sequencing industry. M. A. Curnutte, K. L. Frumovitz, J. Bollinger, G. H. Javitt, K. S. Carner, D. Kaufman, A. L. McGuire.

2439W   The commercialization of non-invasive prenatal testing: Will a private market drive effective clinical translation? A. Agarwal, L. Sayres, M. Cho, R. Cook-Deegan, S. Chandrasekharan.

2440T   Continuity of care of patients with inherited genetic disorders. H. Azimi, S. Ghavimi.

2441W   Communicating with biobank participants: preferences for receiving aggregate results and providing updates to researchers. J. Mester, M. Mercer, A. Goldenberg, R. Moore, C. Eng, R. Sharp.

2442T   The European Network for Human Congenital Imprinting Disorders — A new COST Action (BM1208). T. Eggermann, BM1208 Members.

2443W   The “eugenics” program and public health genomics in China and their implications towards East Asia. K. Muto, B. Zhao, H. Hong.

2444T   The attitudes of patients with cystic fibrosis and their parents towards direct-to-consumer genetic testing. S. Janssens, C. Binst, I. Mahieu, A. De Paepe, P. Borry.

2445W   Genetic causal beliefs of morbidity: associations with health behaviors and outcome beliefs of behavior changes during two decades in the general population. A. H. Haukkala, N. Hankonen, H. Konttinen, M. Perola, H. Kääriäinen, V. Salomaa.

2446T   A systematic approach to the development of evidence-based family history screening in pediatric primary care. E. Edelman, B. K. Lin, N. Mikat-Stevens, L. Vasquez, K. Hughes, J. Scott.

2447W   An assessment of perceived medical and psychosocial needs of families that have children affected by Duchenne muscular dystrophy in Madurai, India. S. Kejriwal, K. Ormond, V. S. Arun, L. Stanislas, C. Siskind.

2448T   Reporting of incidental copy number variation detected by chromosomal microarray analysis in “normal” parents/family members — A review of 3500 cases. A. Patel, S. W. Cheung, P. Stankiewicz, A. Breman, S. R. Lalani, J. Smith, C. Shaw, S. Peacock, A. Braxton, L. Ellis, P. Ward, J. R. Lupski, A. Beaudet, W. Bi.

2449W   The Hospital for Sick Children Genome Clinic: Developing and evaluating a pediatric model for individualized genomic medicine. M. S. Meyn, S. Bowdin, N. Monfared, D. Merico, D. J. Stavropoulos, M. Girdea, R. Hayeems, T. Stockley, M. Szego, G. D. Bader, R. D. Cohn, C. R. Marshall, R. Zlotnik Shaul, M. Brudno, C. Shuman, P. Ray.

2450T   Frequency of ACMG recommended 57 gene incidental findings from whole exome sequencing in a cohort of 47 adult individuals. J. Wynn, M. L. Cremona, J. Martinez, Y. H. Cheung, W. K. Chung.

2451W   Incidental findings and the ACMG guidelines: What is the real burden? J. J. Johnston, D. Ng, S. G. Gonsalves, K. L. Lewis, D. N. Cooper, J. Berg, H. L. Rehm, L. G. Biesecker.

2452T   An assessment of the prevalence of rare nonsynonymous variants within the genes listed in the ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing. S. P. Strom, H. Lee, J. L. Deignan, K. Das, E. Vilain, W. W. Grody, S. F. Nelson.

2453W   Do preferences matter? Creating and assessing a novel preference-setting tool for the return of genomic research results. P. L. Bacon, S. K. Savage, S. I. Ziniel, K. D. Christensen, N. L. Huntington, E. R. Weitzman, P. L. Taylor, R. C. Green, I. A. Holm.

2454T   Biobank participants’ perspectives on aggregate result return. E. Bane, E. Ludman, J. Richards, G. Jarvik, S. M. Fullerton.

2455W   Scripps Idiopathic Diseases of Man Study: The first 2 years. C. S. Bloss, S. Topol, B. F. Darst, A. Torkamani, N. J. Schork, E. J. Topol.

2456T   Should secondary findings from whole exome and whole genome sequencing be released to research subjects? Our ethical responsibility. C. A. Campbell, T. Bair, D. Kolbe, R. J. H. Smith.

2457W   “We don’t know her history, her background”: Adoptive parents’ perspectives about sequencing results. J. Crouch, J. Yu, A. G. Shankar, H. K. Tabor.

2458T   Human genetic researchers and biobank leaders support the return of high-risk, actionable research findings but face numerous impediments to responsible return of results. R. Dvoskin, J. Bollinger, K. Kreger, A. A. Padon, K. L. Edwards, D. Kaufman.

2459W   Focus group exploration of return of research results. W. A. Faucett, S. N. Fetterolf, L. H. Rogers, S. A. Martin, M. S. Williams, D. J. Carey.

2460T   Pleiotropy and the potential return of (additional) incidental information with incidental result return. S. M. Fullerton, J. M. Kocarnik.

2461W   Reasons associated with different levels of interest in receiving individual genetic research results: A public survey. L. Jamal, J. Bollinger, R. Dvoskin, D. Kaufman.

2462T   User satisfaction with a web-based tool for self-guided management of results from ES/WGS. S. M. Jamal, J. Yu, J. Crouch, A. A. Lemke, M. J. McMillin, A. G. Shankar, K. M. Dent, M. J. Bamshad, H. K. Tabor.

2463W   The Industry Pharmacogenomics Working Group perspective on providing individual research results and incidental findings to clinical trial research participants. S. K. Prucka, L. J. Arnold, J. E. Brandt, S. Gilardi, L. C. Harty, F. Hong, J. S. Malia, D. J. Pulford.

2464T   Interest in different types of individual genome sequencing results among younger breast cancer patients. M. R. Ray, J. Ivanovich, B. B. Biesecker, L. G. Dressler, R. Dresser, M. S. Goodman, P. J. Goodfellow, K. A. Kaphingst.

2465W   Ethically optimized consents for pediatric whole genome sequencing. R. Zlotnik Shaul, M. S. Meyn, M. Szego, R. Hayeems, C. Shuman, N. Monfared, S. Bowdin.

2466T   Evaluation of ACMG recommended incidental findings in clinical whole exome sequencing. E. Haverfield, A. Daly, A. Fuller, N. Smaoui, K. Retterer, P. Vitazka, G. Richard, W. Chung, S. Bale.

2467W   Giving and receiving: Comparing parents', paediatricians' and genetic health professionals' opinions about uncertain chromosomal microarray results. E. Turbitt, D. Amor, J. Halliday, S. Metcalfe.

2468T   Development of a decision aid for the selection of incidental genome sequencing results. Y. Bombard, K. Schrader, E. Glogowski, M. Salerno, S. Patil, M. Massie, R. Rau-Murthy, M. Corines, C. Manschreck, J. Vijai, Z. Stadler, S. Lipkin, K. Offit, M. Robson, (first and second authors have equal contributions).

2469W   Actionable incidental findings in the 1000 Genomes dataset. E. Olfson, C. E. Cottrell, N. O. Davidson, N. O. Stitziel, L. Chen, S. Hartz, S. Koul, R. Nagarajan, N. L. Saccone, L. J. Bierut.

2470T   Binning framework for a decision aid for the selection of incidental genome sequencing results. K. Schrader, Y. Bombard, E. Glogowski, M. Salerno, S. Patil, M. Massie, R. Rau-Murthy, M. Corines, C. Manschreck, J. Vijai, Z. Stadler, S. Lipkin, K. Offit, M. Robson, First and second authors have equal contributions.

2471W   How interested are parents in genome screening for their newborns? R. C. Green, S. S. Kalia, H. L. Levy, I. A. Holm, S. E. Waisbren.

2472T   Psychological responses to genetic risk disclosure among individuals at imminent risk for Alzheimer’s disease and their study partners: Findings from the REVEAL study. K. D. Christensen, J. S. Roberts, J. H. Karlawish, T. O. Obisesan, L. B. Waterston, L. A. Cupples, W. R. Uhlmann, E. McCarty Wood, R. C. Green, on behalf of REVEAL Study Group.

2473W   The impact of genetic risk disclosure for Alzheimer’s disease: Findings from the REVEAL Study APOE ε4 homozygotes. L. B. Waterston, J. H. Karlawish, J. S. Roberts, C. A. Chen, K. D. Christensen, R. C. Green, for REVEAL Study Group.

2474T   A historical overview and a reflection on bioethical and ELSI activities for basic researches in human genetics and genomics in Japan. N. Yamamoto, K. Kato.

2475W   Result of the bioethics questionnaire survey of Nepali university students on genetic testings. H. Numabe, R. Pokharel.

2476T   Attitudes and concerns of educated scientists undergoing whole exome sequencing. A. Fiksdal, N. Lindor, K. Johnson, K. Hunt, K. Mensink, J. McCormick.


Genetic Counseling

 

2477F   Parental decisions following prenatal diagnosis of chromosomal abnormalities around Nagoya, Japan. N. Suzumori, K. Kumagai, S. Goto, A. Nakamura, S. Saitoh, M. Sugiura-Ogasawara.

2478F   Parental causal attributions of OCD and implications for genetic counseling: An exploratory study. H. J. Andrighetti, A. Semaka, S. E. Stewart, C. Shuman, D. Chitayat, R. Hayeems, J. C. Austin.

2479F   An exploration of families' experiences regarding a comorbid diagnosis of neurofibromatosis type 1 and autism spectrum disorder in their child: Guiding screening and disclosure practices. L. Baret, R. Hayeems, P. Parkin, C. Shuman, M. Carter, P. Kannu, D. Chitayat, A. Shugar.

2480F   Perspectives of adolescents regarding their genetic counseling experience: A qualitative study. A. Pichini, K. Sappleton, M. Kaufman, C. Shuman, D. Chitayat, R. Babul-Hirji.

2481F   Reproductive genetic counseling — The most suitable timing? N. Takeshita, A. Takashima, Y. Yasuda, T. Adachi, I. Sasaki, K. Yokokawa, M. Manrai, T. Ichinose, A. Ishida, M. Urita, A. Yokoyama, T. Kinoshita.

2482F   Whole exome sequencing: Assessing what patients want to know. K. Hitch, G. Joseph, J. Guiltinan, J. Kianmahd, J. Youngblom, A. Blanco.

2483F   Parents’ understanding of uncertain chromosomal microarray results: A search for meaning. L. A. Kiedrowski, K. M. Owens, B. M. Yashar, J. L. Schuette.

2484F   Comparing uptake of testing and psychosocial impact in pregnant and non-pregnant women offered carrier screening for fragile X syndrome. S. Metcalfe, M. Martyn, J. Emery, J. Halliday, S. Donath, J. Cohen, FaXeS Study Team.

2485F   A study in contrasts: The effect of personal genomic testing on perceived risk of melanoma and lung cancer in the PGen Study. D. A. Carere, P. Kraft, C. A. Chen, L. A. Cupples, T. Moreno, J. Mountain, J. S. Roberts, R. C. Green, PGen Study Group.

2486F   Genetic testing for cardiovascular risk can promote better control over controlled risk factors during one year follow up in women. O. A. Makeeva, V. V. Markova.

2487F   Disease status and genetic testing among consumers of two personal genomics companies: Findings from the PGen Study. S. F. Meisel, J. Wardle, J. Mountain, T. Moreno, S. S. Kalia, J. S. Roberts, R. C. Green, for PGen Study Group.

2488F   Pathways to and through genetic testing and cancer aged 18-25. L. M. Hoskins, A. Werner-Lin.

2489F   Moving up mastectomies: Emerging adulthood, surveillance fatigue and the Affordable Care Act of 2010. A. Werner-Lin, L. Hoskins.

2490F   High satisfaction and low distress after diagnostic whole exome sequencing in adults. N. Hoogerbrugge, A. S. Sie, W. A. G. Zelst-Stams, M. R. Nelen, H. G. Yntema, L. Spruijt, J. A. Veltman, I. Feenstra, J. B. Prins.

2491F   A study of perception of health problems in patients with Prader-Willi syndrome by their caregivers and the caregivers’ health care behaviors. W. Khunin, P. Tanpowpong, D. Wattanasirichaigoon.

2492F   Is it “just like any other test?”: Parents experiences with array cGH in pediatrics. R. Babul-Hirji, N. Hoang, R. Hayeems, R. Weksberg, C. Shuman.

2493F   Impact of a brief theory-driven intervention on family communication about cancer family history in a diverse urban clinic. J. Bodurtha, D. Bowen, J. Borzelleca, R. Corona, M. Gyure, A. Krist, A. Maibauer, D. McClish, V. Rodriguez, J. Quillin.

2494F   Cancer genetics referral patterns of physicians and patient socio-demographics. J. Cohn, W. Blazey, S. Koehler, B. Laurent, V. Chan, M. Jung, D. Tegay, B. Krishnamachari.

2495F   Prenatal chromosome SNP microarray analysis: Genetic counseling issues and dilemmas. H. Cabral, S. Schwartz, J. Tepperberg, I. Gadi, V. Jaswaney, R. Burnside, K. Phillips, E. Keitges, H. Risheg, V. Potluri, R. Pasion, B. Rush, H. Taylor, L. Kline, J. Shafer, P. Papenhausen.

2496F   Offspring risk perceptions: Adolescents and young adults with congenital heart disease agree with their parents (and both are wrong!). S. M. Fitzgerald-Butt, K. M. Fry, A. N. Zaidi, C. A. Gerhardt, V. Garg, K. L. McBride.

2497F   Emerging changes in genetic counseling and reproductive decision making based on AGG mapping of fragile X carriers. A. G. Hadd, A. Glicksman, J. Coppinger, N. Ersalesi, J. McCarver, E. Blatt, W. T. Brown, J. Skeen, G. J. Latham, S. L. Nolin.

2498F   A two-stage approach to genetic risk prediction of breast and ovarian cancer. P. M. Atienza, J. Chipman, K. Hughes, C. I. Amos, B. Arun, G. Parmigiani, S. Biswas.

2499F   Clinical implications of variants of unknown significance in chromosomal microarrays in pregnancies in Israel. H. Yonath, S. Rienstein, J. Shamash, M. Berkenstadt(, M. Dicastro, S. Eisenberg- Brazilai, N. Goldstein, M. Frydman, E. Pras.

2500F   A gift to the children — Genetic testing at the end of life. M. Mikhaelian, K. Stears.


Health Services Research

 

2501W   Using the Cleveland Clinic Score to predict for germline PTEN mutations in the analytical algorithm of Cowden syndrome: A cost effectiveness study. J. Ngeow, J. Mester, C. Eng.

2502W   Genetic tests evolution in the genomic era: Is cost evaluation a relevant factor in health care planning? D. Coviello, C. Lanza, A. Seri, M. Parodi, P. Casale, A. Fabbri, S. Casati, M. Esposto.

2503W   Innovation in genomic medicine to realize the bioeconomy in Mexico. S. March, F. Valdez-Ortega, G. Soberon, J. Frenk, G. Jimenez-Sanchez.

2504W   Awareness of genetic breast cancer epidemic in Iceland. V. Stefansdottir, J. J. Jonsson, O.T. Johannsson.

2505W   My46: A genetic counseling extender. K. M. Dent, S. M. Jamal, J. H. Yu, H. K. Tabor, M. J. Bamshad.

2506W   Engaging health professionals in evaluations of emerging genomic technologies. C. Catley, J. Little, S. Nicholl, H. Etchegary, J. C. Carroll, D. Castle, L. Lemyre, B. K. Potter, B. J. Wilson, CIHR Emerging Team in Genomics in Screening.

2507W   Uptake of a web-based patient-entered cancer family history collection tool. M. Doerr, S. Griffith, C. Eng.

2508W   Perspectives on universal screening for Lynch syndrome in a managed care setting. J. V. Davis, T. Kauffman, J. Reiss, C. McGinley, K. Arnold, M. Gilmore, K. A. B. Goddard.

2509W   The awareness and need of genetic counseling service in Korea. H. J. Kim.

2510W   Modeling of downstream counseling impact of ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. L. Burnett, L. C. Ding, D. Chesher, R. Lew, A. Proos.

2511W   Factors that drive pediatric medical management following chromosome microarray analysis. R. Hayeems, N. Hoang, S. Chenier, J. Stavropoulos, S. Pu, S. Wodak, R. Babul-Hirji, J. Davies, L. Velsher, J. Aw, R. Weksberg, C. Shuman.

2512W   The NINDS Repository Biomarkers Discovery Collection: A public resource of biomaterials for neurodegenerative disease research. C. Tarn, M. Self, K. Gwinn, M. Sutherland, C. Pérez, W. Muhammad, G. Balaburski, M. Frasier, L. Vincent, R. Corriveau.

2513W   Measuring treatment preferences of parents of children with Duchenne muscular dystrophy using best-worst scaling. H. L. Peay, I. Hollin, H. Sheffer, J. F. P. Bridges.

2514W   A review of the Welsh breast cancer screening program for women with a family history of breast cancer at a moderately increased risk. S.L. M. Nisbet, L. Murray, K. Pegington, M. T. Rogers, K. Gower-Thomas, A. J. Murray.

2515W   Documenting family history of cancer and referral for genetic counseling and testing in screening families at risk of hereditary breast or colorectal cancer. I. Shapira, K. Cheng, V. John, K. Sultan, R. Sharma, D. Gokalp Yasar, N. Nyatanga, N. Eisler, J. Cho, E. Taioli.

2516W   Needs assessment of individuals with 22q11.2 deletion syndrome transitioning from pediatric to adult health care settings. W. L. A. Fung, E. Leung, A. S. Bassett.

2517W   The DSD-Translational Research Network, a national research and clinical network to improve health for people with disorders of sex development. E. Delot, D. E. Sandberg, E. Vilain.

2518W   Whole genome sequencing vs. family history: Physician perceptions of clinical utility. J. L. Vassy, R. C. Green, J. Krier, D. Lautenbach, K. D. Christensen, M. A. Giovanni, M. F. Murray, A. L. McGuire, for The MedSeq Project.

2519W   Conceptualizing family history taking in clinical pediatric practice. L. Tessier, B. K. Potter, J. Brehaut, P. Chakraborty, J. C. Caroll, J. Allanson, J. Little, D. Castle, B. J. Wilson, CIHR Emerging Team in Genomics in Screening.

2520W   Genetic counsellors’ preferences for preimplantation genetic diagnosis: Designing a discrete choice experiment. E. Goh, W. Ungar, D. Marshall, F. Miller.

2521W   Identification and characterization of genetic services in Peru. M. R. Cornejo-Olivas, M. R. Velit-Salazar, T. Avalos-Cruz, MD, M. M. Duenas-Roque, MD, M. Inca-Martinez, A. P. Mora-Alferez, MD, S. M. Siccha-Arancibia, M. Brunner-Sciarra, MS, PhD, P. Mazzetti, MD, MBA, M. I. De Michelena, MD, PhD, C. Matos-Miranda, MD, MsC.


Clinical Genetic Testing

 

2522W   Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss. B. Choi, G. Park, J. Kim, A. R. Kim, B. J. Kim, T. Park, S. Oh, K. Han, W. Park.

2523T   Automating clinical exome analysis. M. N. Bainbridge, E. B. Venner, C. Eng, Y. Yang, R. A. Gibbs.

2524F   Design and validation of next-generation sequencing reference standards for oncology. J. Goodall, C. Lowe, C. Thorne, A. Mulligan, J. Frampton, B. Burke, K. Schmitt, P. Morrill.

2525W   Simultaneous detection of point mutations and exonic deletions by target gene capture and deep sequencing. Y. Feng, G.-L. Wang, H. Cui, J. Wang, V. W. Zhang, L.-J. Wong.

2526T   Next-generation sequencing coupled with a novel multiplex PCR protocol for comprehensive genetic screening of maturity onset diabetes of the young in India. A. Chapla, D. M. Mahesh, D. Varghese, S. V. Nadig, H. S. Asha, R. T. Varghese, M. Inbakumari, F. Christina, S. Mathai, T. V. Paul, N. Thomas.

2527F   Many types of DNA damage can be detected with two-dimensional strandness-dependent electrophoresis. J. J. Jonsson, B. Gudmundsson, H. G. Thormar, A. G. Sigurdsson, S. Thongthip, M. Steinarsdottir, A. Smogorzewska.

2528W   Next-generation molecular diagnosis of patients with retinal degeneration. L. Lan, N. Li, J. Chiang.

2529T   Using targeted next-generation sequencing for diagnosis and screening in newborns. T. D. Sokolsky, E. W. Naylor, A. Bhattacharjee.

2530F   Targeted sequencing of genes causing atypical hemolytic uremic syndrome and coagulation disorders. S. Theru Arumugam, K. Meganathan, D. Kissell, S. Jodele, R. Gruppo, K. Zhang.

2531W   Application of targeted next-generation sequencing in clinical diagnostics. B. Sikkema-Raddatz, L. F. Johansson, E. N. de Boer, K. van Dijk-Bos, P. van Norel, J. Dijkhuis, M. Viels, M. Meems, A. Schipper, Y. Vos, H. Westers, B. Leegte, J. G. ter Beest, L. van der Heijden, A. H. van der Hout, L. G. Boven, J. P. van Tintelen, R. Almomani, R. H. Sijmons, J. D. H. Jongbloed, R. J. Sinke.

2532T   Improved accuracy and precision in clinical next-generation sequencing with the SmartChip TE™ target enrichment system. J. Dunne, W. Dong, G. Hein, S. Silveria, S. Derveaux, A. Chang, S. Anandakrishnan, M. Leong, M. Sanchez, D. Batey, S. Husain.

2533F   Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. H. Lango Allen, R. Caswell, E. De Franco, S. Flanagan, G. Hysenaj, K. Colclough, J. Houghton, M. Shepherd, A. T. Hattersley, M. N. Weedon, S. Ellard.

2534W   NGS data analysis for a primary immunodeficiency gene panel using haloplex enrichment method. J. Durtschi, E. M. Coonrod, R. L. Margraf, H. R. Hill, K. V. Voelkerding, A. Kumáovics.

2535T   Detection of copy number variants in whole exome sequencing data in routine genome diagnostics. N. de Leeuw, J. Y. Hehir-Kwa, D. Lugtenberg, M. del Rosario, J. de Ligt, R. Pfundt.

2536F   Clinical interpretation and reporting of secondary findings from genome sequencing: Lessons learned from the first 15 cases of The MedSeq Project. H. M. McLaughlin, J. Krier, W. J. Lane, D. Metterville, I. Leshchiner, B. H. Funke, J. L. Vassy, M. Murray, I. S. Kohane, S. W. Kong, C. MacRae, M. S. Lebo, R. C. Green, H. L. Rehm, The MedSeq Project.

2537W   Analytical performance of a next-generation DNA sequencing-based clinical workflow for genetic carrier screening. G. J. Porreca, M. Umbarger, C. Kennedy, P. Saunders, B. Breton, N. Chennagiri, D. Maganzini.

2538T   Targeted exome sequencing identifies two pathogenic DYNC2H1 variants in a fetus with short-rib-polydactyly syndrome. K. I. Varvagiannis, P. Makrythanasis, F. Santoni, J.-M. Pellegrinelli, P. Extermann, C. Brockmann, C. Gehrig, M. Guipponi, J.-L. Blouin, S. E. Antonarakis, S. Fokstuen.

2539F   Validation of an accurate, high-throughput multiplex qPCR assay to confirm CMA clinical findings. L. E. Northrop, V. Aggarwal, V. Jobanputra, M. Mansukhani, B. Levy.

2540W   Detection and quantification of somatic mutations in Klippel-Trenaunay syndrome using digitally counted nanodroplets. N. M. K. Kamitaki, V. Luks, R. Murillo, S. A. McCarroll, M. Warman.

2541T   Prenatal testing of novel mutations of maple syrup urine disease by next-generation sequencing. S. Chen, X. Li, H. Ge, X. Pan, F. Chen, H. Jiang.

2542F   New allele-specific real-time PCR system with automatic interpretative program for genotyping of SNPs related to pharmacogenetics. D. Kim, S. Byun, J. Seo, C. Lee.

2543W   Discrepant Tay-Sachs disease enzyme and DNA carrier screening results in the African American population. D. Neitzel, H. Travassos, N. Faulkner, S. Hallam, V. Greger.

2544T   Diagnostic sequencing — Implemention into routine processes. K. Stangier, T. Paprotka.

2545F   Molecular genetic diagnosis of Fanconi anemia in Chinese patients. X. Chen, H. Liu, W. Teng, F. Wang, Y. Wang, Q. Yin, M. Wang, L. Guo, P. Zhu.

2546W   Estimating the contribution of unidentified mutations in autosomal recessive disorders. L. P. ten Kate, M. E. Teeuw, A. Sefiani, F.-Z. Laarabi, I. Hama, L. Henneman, M. C. Cornel.

2547T   The effect of long-term frozen storage of urine samples on the detection of Chlamydia trachomatis in comparison to preserved, room temperature urine samples. M.AK Abdalla, M. El-Mogy, C. Moreira, R. DiPietro, T. A. Haj-Ahmad, Y. Haj-Ahmad.

2548F   De novo occurrence of SMN1 deletions: Parental origin and frequencies. K. Eggermann, T. Eggermann, K. Zerres, S. Rudnik-Schöneborn.

2549W   A connective tissue disorders NGS panel: Development, validation, and novel findings. J. Lee, M. Basehore, S. McGee, K. Kubiak, K. King, K. Champion, J. Jones, M. Friez.

2550T   Validation of clinical NGS vs. Sanger sequencing: Measuring the value of orthogonal testing. S. Lincoln, S. Kash, Y. Kobayashi, G. Nilsen, J. Sorenson, M. Cargill, R. Scott.

2551F   Success and flaws when using NGS for molecular diagnosis. K. Rocha, M. Lazar, G. Yamamoto, M. Aguena, V. Takahashi, R. Pavanello, M. Passos-Bueno.

2552W   Clinical utility of next-generation sequencing for the molecular diagnosis of genetically heterogeneous retinitis pigmentosa. J. Wang, V. W. Zhang, F. Y. Li, C. Truong, G. Wang, P. W. Chiang, R. A. Lewis, L. J. Wong.

2553T   Evaluation of fragile X screening methods for early detection of affected infants. P. Mueller, J. Lyons, G. Kerr.

2554F   Development and implementation of AJPNxt, a 51 mutation Ashkenazi carrier screening panel built on the Illumina BeadXPress™ platform. J. M. Buis, S. Birkeland, J. Sugalski, C. Holland, J. Stoerker.

2555W   Development of a target-capture gene panel for clinical genomic sequencing in Bronx, NY. M. Delio, K. Patel, A. Maslov, J. Cai, J. Shan, S. Maqbool, B. Calder, A. Golden, J. Greally, B. Morrow, J. Vijg, C. Montagna.

2556T   Clinical whole exome sequencing coupled with whole mitochondrial genome sequencing at Baylor Whole Genome Laboratory. Y. Ding, D. M. Muzny, J. G. Reid, A. C. Hawes, M. Wang, M. N. Bainbridge, N. Veeraraghavan, Y. Han, H. Dinh, D. P. C. Ng, C. J. Buhay, J. V. Korchina, M. L. Landsverk, V. Zhang, M. Scheel, W. Liu, N. Saada, J. Ma, J. Chandarana, L. K. Dolores-Freiberg, S. Matakis, R. Najjar, R. A. Gibbs, A. L. Beaudet, C. M. Eng, Y. Yang.

2557F   BRCA1/2 genomic rearrangements and characterization of familial breast cancer. Y. J. Hyun, S. H. Seo, M. W. Seong, S. I. Cho, S. S. Park, S. W. Kim.

2558W   Utility and limitations of exome sequencing for the molecular diagnosis of bilateral sensorineural hearing loss. V. Jayaraman, J. S. Brunton, A. Sasson, M. Sarmady, J. L. Abrudan, M. C. Dulik, E. T. DeChene, S. E. Noon, A. Wilkens, A. Dickinson, M. Kaur, L. K. Conlin, N. B. Spinner, P. S. White, I. D. Krantz.

2559T   The Mayo Clinic experience with short stature and search for genetic causes of idiopathic cases. A. Kochhar, J. Rustin, M. Goodenberger, Q. Stein, A. Mroch, L. Borovik, L. Davis-Keppen, E. Thorland, G. Velagaleti, S. Kirmani, A. Lteif, P. L. Crotwell, J. C. Hodge.

2560F   Two HEXB genotypes affect Tay-Sachs disease carrier identification by enzymatic activity assay. J. Liao, M. Luo, L. Shi, J. Goldman, L. Edelmann, C. Yu, R. Kornreich.

2561W   Classification and interpretation of PRSS1, SPINK1 and CFTR sequence variants found in idiopathic and hereditary pancreatitis. A. Millson, C. Miller, E. Lyon.

2562T   Challenges of reporting incidental findings: Follow-up on a FBN1 mutation identified by clinical WES testing. Z. Niu, M. R. Bekheirnia, P. Ward, A. Braxton, F. J. Probst, G. S. Patel, L. Immken, Y. Yang, C. M. Eng.

2563F   Clinical experience with TaGSCAN, a targeted next-generation based sequencing test for 514 genes using symptom-driven analysis. C. J. Saunders, E. Farrow, S. E. Soden, N. A. Miller, D. Dinwiddie, L. Willig, L. Zellmer, L. Smith, S. F. Kingsmore.

2564W   Establishment of molecular diagnostic platform for Leber congenital amaurosis using extensive multi-gene panel sequencing. S. H. Seo, Y. S. Yu, J. M. Hwang, H. Park, S. I. Cho, S. S. Park, M. W. Seong.

2565T   Detection of low-level mosaic microdeletion in neurofibromatosis type 1. J. Xie, A. Poplawski, C. Fu, T. Callens, J. Williams, H. Zhan, L. Messiaen.

2566F   Incorporating new disease genes into clinical whole exome sequencing: Annotation update, interpretation challenges and customized familial studies. Y. Yang, F. Xia, J. Beuten, Z. Niu, M. S. Leduc, R. E. Person, M. T. Hardison, J. Zhang, M. Bainbridge, J. G. Reid, A. C. Hawes, Y. Ding, A. A. Braxton, P. A. Ward, M. L. Landsverk, A. Willis, D. M. Muzny, S. E. Plon, J. R. Lupski, A. L. Beaudet, R. A. Gibbs, C. M. Eng, Baylor Whole Genome Laboratory.

2567W   Implementation of a quality assurance program for next-generation sequencing-based tests. Z. Yu, M. Sarmady, T. Tischler, B. A. Brown-Kipphut, M. Shafiq, N. N. Fernandes, Z. Fan, M. S. Boltz, J. B. McKnight, B. N. McLarney, L. C. Davidson, M. J. Italia, J. W. Pennington, P. S. White, P. V. Warren, C. A. Stolle, A. Santani.

2568T   Non-invasive detection of genomic mutations by targeted sequencing of plasma cell-free DNA. J. Namkung, K. Seo, Y. Lee.

2569F   A systematic approach to assessing the clinical significance of genetic variants. H. Duzkale, J. Shen, H. McLaughlin, A. Alfares, M. A. Kelly, T. J. Pugh, B. H. Funke, H. L. Rehm, M. S. Lebo.

2570W   Assessment of detection of proviral DNA and RT (Met 184 Val) gene-resistance mutation in HIV-1 identified by Multiplex PCR and restriction fragment digestion assay. R. Shrestha, S. Khadka, S. R. Wagle, A. Sapkota.

2571T   International external quality assessment for diagnostic next-generation sequencing. S. Abbs, J. Coxhead, P. Westwood, K. Thomson, H. Scheffer, S. Bhaskar, G. Taylor, Z. Deans, S. Patton.

2572F   Development of a rapid and comprehensive genetic testing service for nephrotic syndrome using next-generation sequencing. E. J. Ashton, D. Bockenhauer, N. J. Lench.

2573W   Diagnostic exome sequencing can alter a primary clinical diagnosis. F. Taylan, M. Kvarnung, A. Lindstrand, T. Bui, A. Nordgren, E. Blennow, M. Nordenskjöld, D. Nilsson.

2574T   The importance of considering autosomal genes for the diagnosis of non-syndromic intellectual disability. C. Tan, S. Topper, V. Nelakuditi, K. Arndt, F. Kobiernicki, D. del Gaudio, N. Meeks, J. Saari, V. Misra, S. Sastry, S. Levesque, L. Russell, G. Sillon, S. Das.

2575F   Clinical usefulness of copy number variants detected by affymetrix high-resolution genome-wide array. E. Cho, E. Lee, J. Jang, H. Kim.

2576W   Performance analysis of saliva generated genomic DNA used for genotyping on the Affymetrix DMET Plus array as part of the Coriell Personalized Medicine Collaborative. N. P. Gerry, N. C. Weiner, D. E. Lynch, L. A. Swanson.

2577T   Improved diagnosis of mitochondrial disorders by next-generation sequencing approach. V. W. Zhang, J. Wang, Y. Feng, X. Tian, L.-J. Wong.

2578F   Detection of disease-causing mutations in the Ashkenazi Jewish population using a biofilm microarray. M. Procter, C. Smith, R. Mao.

2579W   Comprehensive mutation analysis by next-generation sequencing in patients with neonatal intrahepatic cholestasis. T. Togawa, T. Sugiura, K. Ito, T. Endo, S. Saitoh.

2580T   CIGMA (Clinical Impact of Genetic Mutational Analysis): A new approach to mutational classification in large-scale clinical genetic testing. C. Turnbull, R. Sultana, S. Mahamdallie, E. Ruark, H. Hanson, N. Rahman.

2581F   A comprehensive genetic analysis of Japanese patients with Charcot-Marie-Tooth disease using a next-generation sequencing system. A. Hashiguchi, A. Yoshimura, S. Nozuma, Y. Higuchi, Y. Sakiyama, T. Nakamura, Y. Okamoto, E. Matsuura, H. Takashima.

2582W   Multiplex-PCR coupled to next-generation sequencing and SNP array technologies greatly improve molecular diagnosis of Usher syndrome. C. Bonnet, S. Chantot-Bastereaud, I. Sliesoraityte, A. Fakin, F. Testa, L. Martorell Sampol, S. Gherbi, S. Dad, S. Marlin, S. Kohl, D. Zobor, S. Mohand-Saďd, F. Simonelli, S. Banfi, J. Rodriguez Jorge J., L. Birk Moller, A. Kurtenbach, M. Hawlina, A. Aurricchio, J. A. Sahel, I. Audo, E. Zrenner, C. Petit.

2583T   Panel diagnostics for deafness disorders using next-generation sequencing. I. Vogl, S. H. Eck, S. Datter, S. Küçük, D. Wahl, I. Rost, S. Chahrokh-Zadeh.

2584F   Next-generation sequencing in the molecular diagnostics of rare diseases using a gene panel approach. S. H. Eck, I. Vogl, S. Datter, S. Kuecuek, W. Rupprecht, B. Busse, J. Hoefele, S. Chahrokh-Zadeh, C. Marschall, K. Mayer, I. Rost, HG. Klein.

2585W   Sequencing CFTR in a clinical diagnostic setting using the ion torrent personal genome machine. L. Y. Lau, M. Eliou, J. Orr, C. R. Marshall, T. L. Stockley, S. W. Scherer, P. N. Ray.

2586T   Reproducibility of fetal fraction estimates in maternal plasma using the Harmony™ prenatal test. E. Wang, C. Struble, T. Musci, A. Batey, J. Schmidt, K. Song, A. Oliphant.

2587F   Fast STR-PCR protocol enabling rapid and high quality chimerism analysis after allo-HSCT. W. Teng, H. Liu, F. Wang, Y. Wang, X. Chen, J. Fan, P. Zhu.

2588W   New method for detecting mutation with high sensitivity using capillary electrophoresis DNA sequencer. T. Yokoi, M. Yoshida, T. Anazawa.

2589T   Whole-genome prenatal sequencing and integrative genomics: Detection of structural variation from invasive and non-invasive approaches. M. E. Talkowski, V. Pillalamarri, H. Brand, I. Blumenthal, M. Z. Ordulu, S. Pereira, J. Kitzman, J. Shendure, J. F. Gusella, C. C. Morton.

2590F   A novel and rapid digital PCR-based method for the identification of 22q11.2 Deletion syndrome in large population screening. V. Hwang, D. Maar, J. Regan, T. Simon, F. Tassone.

2591W   Detection of 22q11.2 deletion syndrome in Colombian patients with isolated congenital cardiopathy by MLPA. T. Pineda, O. Moreno, I. Zarante.

2592T   A comparison of CNV endpoint accuracy between CytoScan® Dx assay and next-generation sequencing. A. Roter, B. Eynon, S. Close, K. Kwiatkowski, D. Ballinger, S. Yang, R. Duttagupta, C. Chen, K. Suyenga, A. Singh, T. Chen, M. Chadha, E. Fung.

2593F   Accurate detection of small and large copy number events from targeted next-generation sequence data. K. B. Jacobs, J. P. Paul, G. Nilsen, M. Mikhaelian, R. Hart, M. Johnson, S. E. Lincoln, J. M. Sorenson.

2594W   Assessing common maternal copy number variation during cfDNA analysis for non-invasive prenatal testing using Digital Analysis of Selected Regions (DANSR™) assays. C. Struble, E. Wang, J. Schmidt, A. Batey, T. Musci, K. Song, A. Oliphant.

2595T   Generating high confidence next-generation sequencing variant calls for clinical diagnostic use. P. J. B. Sabatini, L. Lau, M. Eliou, J. Orr, P. Ray, T. Stockley.

2596F   Validation and implementation of a 19-gene 2nd tier Rett/Angelman syndrome next-generation sequencing panel. J. R. Jones, M. J. Basehore, S. McGee, K. Kubiak, J. Butler, K. King, J. A. Lee, M. J. Friez.

2597W   High-throughput screening for SMN1 copy number loss by next-generation sequencing. E. Boyden, G. Porreca, M. Umbarger.

2598T   Establishing performance specifications for clinical whole exome sequencing. M. O. Dorschner, S. J. Anover-Sombke, J. Gasper, S. McGee, T. Shaffer, K. Patterson, J. D. Smith, G. P. Jarvik, D. A. Nickerson.

2599F   Development and validation of a synthetic, single-reagent, positive control for comprehensive high-throughput carrier screening. A. M. Fedick, C. Jalas, N. R. Treff.

2600W   Limited clinical utility of whole exome sequencing in the diagnosis of hereditary neuropathies. O. Jarinova, J. Warman, J. Schwartzentruber, C. Goldsmith, N. Carson, E. McCready, G. Yoon, S. Baker, A. M. Innes, C. Beaulieu, A. Smith, T. Hartley, K. Boycott.

2601T   Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes. A. Justino, P. Dias, M. J. Pina, C. Ribeiro, S. Sousa, L. Cirnes, A. B. Sousa, J. L. Costa, J. C. Machado.

2602F   Blood group genotyping on the TaqMan® OpenArray®. M. Laig, C. Colvin, M. A. Keller, E. Grigorenko, T. Horn, J. Crowley, D. Fantin.

2603W   Clinical validation of noninvasive prenatal screening for fetal sex chromosome aneuploidies in maternal plasma using Direct ANalysis of Selected Regions (DANSR™) assays. T. Musci, C. Struble, E. Wang, J. Hooks, J. Schmidt, K. Song, A. Oliphant.

2604T   Comparative study for the evaluation of a new technology for cystic fibrosis screening. M. Rongioletti, F. Papa, C. Vaccarella, M. B. Majolini, A. Luciano, C. Centrone, B. Minuti, V. Mazzucchi, M. Belli, I. Giotti, C. Giuliani, F. Torricelli, G. M. Liumbruno.

2605F   Next-generation ABO genomics: The NHLBI Exome Sequencing Project. K. Fox, I. Stanaway, M. B. Bamshad, P. L. Auer, A. Gordon, D. Crosslin, M. Fornage, D. Green, S. Rich, A. P. Reiner, D. A. Nickerson, J. Johnsen.

2606W   Genome analysis of iPS cells for regenerative medicine. A. Watanabe, N. Amano, M. Nakamura, A. Fukuhara, P. Unyanee, Y. Tokunaga, M. Yamaguchi, T. Aoi, K. Okita, K. Takahashi, S. Yamanaka.

2607T   Utility of targeted inherited disease panels for the diagnosis of rare congenital, potentially genetic syndromic disease. A. Khromykh, D. Thach, M. George, J. McCutcheon, W. Wong, R. Baveja, R. Iyer.

2608F   Towards a medical grade exome: Use of a gold standard to evaluate and enhance exome sequencing for diagnosis. M. Pratt, G. Bartha, S. Luo, J. Harris, S. Garcia, G. Chandratillake, S. Chervitz, R. Chen, M. Clark, M. Snyder, J. West, R. Chen.

2609W   Genetic research and diagnostic using Fluidigm integrated fluidic circuits. D. Bercovich, Y. Plostky, S. Allon-Shalev.

2610T   Whole exome sequencing is a sensitive cost-effective method of detecting mutations in osteogenesis imperfecta and Marfan syndrome. A. M. McInerney-Leo, M. Marshall, B. Gardiner, P. Coucke, B. Loeys, J. West, M. West, B. P. Wordsworth, A. Zankl, P. J. Leo, M. A. Brown, E. L. Duncan.

2611F   Rapid and high mutation detection rate using Ion Torrent technology and inherited disease panel. N. Al Tassan, A. Almostafa, D. Khalil, J. Shinwari, R. Kattan, A. Alissa, A. Tahir, M. Abouelhoda.

2612W   High-throughput molecular genetic analysis in 92 patients with steroid-resistant nephrotic syndrome applying Fluidigm Access Array™ technology. E. A. Otto, V. Vega-Warner, M. Sampson.

2613T   Mutaome profiling and retrospective mutaome profiling using archived bone marrow or peripheral blood smear in AML. H. Liu, F. Wang, W. Teng, Y. Wang, X. Chen, Q. Yin, M. Wang, P. Zhu.

2614F   Mutaome profiling and retrospective mutaome profiling using archived bone marrow or peripheral blood smear in B-ALL. F. Wang, H. Liu, W. Teng, Y. Wang, X. Chen, L. Guo, M. Wang, Q. Yin, H. Yang, P. Zhu.

2615W   Molecular characterization of children with severe autism spectrum disorders. A. C. Tsai.

2616T   Establishment of a next-generation sequencing protocol for genetic testing of tuberous sclerosis complex. P. Chen.

2617F   Magnitude of effect of reported common allele risk from clinical genome sequencing and conventional decision factors in therapeutic equipoise: Initial comparison in The MedSeq Project. C. A. MacRae, S. Kong, J. Krier, I. Leshchiner, I. H. Lee, H. M. Maclaughlin, W. J. Lane, D. Metterville, A. L. Hernandez, B. H. Funke, M. Lebo, P. Kraft, I. S. Kohane, R. C. Green, H. Rehm, for The MedSeq Project.

2618W   Translating results of the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) into clinical practice. E. Souzeau, K. P. Burdon, B. Ridge, A. Dubowsky, J. E. Craig.

2619T   ClinVar: Improving access to clinically relevant variants for the research and clinical genomics communities. M. J. Landrum, J. Lee, G. Riley, R. Tully, S. Chitipiralla, M. Halavi, D. Hoffman, J. B. Holmes, W. Jang, K. Katz, M. Ovetsky, A. Sethi, R. Villamarin, D. M. Church, W. S. Rubinstein, D. R. Maglott.

2620F   Molecular diagnostic approach for limb-girdle muscular dystrophy using both multi-gene panel sequencing and Sanger sequencing. H. Park, S. Lee, S. H. Seo, S. Park, S. I. Cho, M. W. Seong, S. S. Park.

2621W   Coding mutations and variations in the 3’UTR of CYP21A2 gene in heterozygous females associate with hyperandrogenism. V. Neocleous, C. Shammas, A. A. P. Phedonos, M. Picolos, T. C. Kyriakides, M. Toumba, N. Skordis, L. A. Phylactou.

2622T   Detection of deleted D4Z4 locus in Turkish patients with facioscapulohumeral muscular dystrophy. S. Berker Karauzum, O. B. Sahan, H. Uysal.

2623F   Investigating the carrier screening potential of the MPL c.79+2T>A transversion, a known cause of congenital amegakaryocytic thrombocytopenia for individuals of AJ descent. S. R. Birkeland, J. Sugalski, C. Holland, J. Stoerker, J. Buis.

2624W   Screening of gene mutation in hyperphenylalaninemia using Ion Torrent sequencing. Y. Cao, F. Song, Y. Qu, J. Bai, Y. Jin, H. Wang.

2625T   Comparison of seven commercial DNA extraction kits for the isolation of Listeria monocytogenes DNA from whole blood samples. M. El-Mogy, M. A. K. Abdalla, L. Graziano, T. A. Haj-Ahmad, Y. Haj-Ahmad.

2626F   A comprehensive low-cost diagnostic test for hundreds of inherited conditions. J. Garcia, J. Sorenson, M. Sommargren, J. Westbrook, E. Hare, Y. Kobayashi, M. Anderson, J. Major, R. Hart, K. Jacobs, E. Oliveras, J. Hagenkord, S. Lincoln, M. Cargill, R. Scott.

2627W   A case in point: When is extended genotyping of AAT (SERPINA1) indicated? S. Kwong, J. Stoller, F. Mularo, F. Lacbawan.

2628T   The NIH Genetic Testing Registry: 2013 status report on genetic testing. W. S. Rubinstein, B. L. Kattman, A. J. Malheiro, J. M. Lee, D. R. Maglott, V. Hem, M. Ovetsky, G. Song, C. Wallin, K. S. Katz, R. Villamarin-Salomon, C. Fomous, J. M. Ostell.

2629F   Diagnostic exome sequencing beneficial among patients with a prior diagnosis. L. M. Shahmirzadi, K. D. Gonzalez, S. Tang, E. Chao, S. Gandomi, B. Trippin, S. Nahas, W. Zeng.

2630W   A retrospective analysis of discrepancies between genotypes and phenotypes on next-generation sequencing colon cancer panels (ColoNext NGS): Implications for clinical diagnosis. S. Tandy, A. Stuenkel, T. Pesaran, H. LaDuca, E. Chen, S. Keiles, V. Speare, C. Radford, W. Zeng.

2631T   Pre-publication sharing of exome/genome variant and phenotype data to resolve rare disease. J. Den Dunnen, I. F. A. C. Fokkema, M. Vermaat, J. F. J. Laros, M. Kriek, P. E. M. Taschner, G. W. E. Santen.

2632F   Multiplex mutation panel for molecular diagnostics of increased nuchal translucency with normal karyotype. P. Tavares, J. Sá, A. Lopes, L. Lameiras, L. Dias, A. Palmeiro, P. Rendeiro.

2633W   Clinical interpretation accuracy of CytoScan® Dx assay. J. Tepperberg, S. Schwartz, A. Roter, C. Du, R. Duttagupta, G. Mamtora, J. Danzer, J. Wallace, S. Close, K. Kwiatkowski, E. Fung, R. Pfundt.

2634T   Clinical application for gene disorders in children using bench top sequencer. T. Naruto, Y. Kuroda, I. Ohashi, K. Kurosawa.

2635F   Cancer risk assessment using genetic panel testing: Considerations for clinical application. S. Hiraki, E. Rinella, F. Schnabel, R. Oratz, H. Ostrer.

2636W   Sex determination using free fetal DNA at early gestational ages: A comparison between a modified mini-STR genotyping method and real-time PCR. H. R. Goodarzi, M. R. Aghanouri, Y. Yazdani, G. Mohammadzadeh Shahriary, S. Abbas Zadeh, S. Yazdani.

2637T   Exome sequence of genetic disorders in consanguineal family. G. Atzmon, D. Ben Avraham, B. Pode-Shakked, Y. Anikster.

2638F   Whole exome sequencing for cancer — Is there evidence of clinical utility? A. Malhotra, L. Cushman-Spock, L. Wieselquist, S. Levine, D. Allingham-Hawkins.

2639W   Recognition of disease-associated alleles in the reference sequence is critical for accurate disease-risk assessment through genome sequencing. G. Chandratillake, S. Garcia, R. Chen, M. Clark, S. Chervitz, D. Newburger, H. Lam, J. West, R. Chen.


Clinical Genetics and Dysmorphology

 

2640W   Autism associated with an Xq12 deletion involving the gene OPHN1 — Importance of pursuing a genetic etiology for an autism spectrum disorder. E. Elias.

2641T   Cell malignitation associated to chromosome translocations: Clinical manifestations in two pediatric patients 46,XY,t(1;4)(q11q11) and 46,XY,t(6;9)(p21;q34). J. Aparicio, M. L. Hurtado H., S. Chatelain M.

2642F   A balanced chromosome translocation reveals involvement of a predicted lipase in weight gain, hearing loss and tumor suppression. B. B. Currall, K. E. Wong, N. G. Robertson, T. Hoyos, A. E. Hickox, Y. Yin, B. J. Quade, M. C. Liberman, E. C. Liao, C. C. Morton.

2643W   Genitourinary defects associated with genomic deletions in 2p15 involving OTX1. C. Jorgez, J. Rosenfeld, N. Wilken, V. Vangapandu, A. Sahin, D. Pham, C. Carvalho, A. Bandholz, A. Miller, D. Weaver, B. Burton, D. Babu, J. Bamforth, T. Wilks, D. Flynn, E. Roeder, S. Cheung, J. Lupski, D. Lamb.

2644T   6q24.3-q25.1 Deletion syndrome. Y. Nishi, M. Tominaga, H. Ueda, Y. Kuroda, I. Ohashi, T. Saito, J. Nagai, K. Kurosawa.

2645F   An infant with 49,XXXXY syndrome and congenital cataract. C. Vinkler, A. Ben Sasson, A. Singer.

2646W   Aiding the interpretation of CNV and sequence variation in DECIPHER using the Genoverse genome browser. E. Bragin, E. A. Chatzimichali, G. J. Swaminathan, A. P. Bevan, C. F. Wright, M. E. Hurles, H. V. Firth.

2647T   The diagnostic yield of chromosomal microarray analysis in a large multidisciplinary craniofacial clinic. K. Dipple, J. Peredo, J. P. Bradley, R. Jarrahy, F. Quintero-Rivera.

2648F   Effects of upregulation of the SHH pathway on Ts65Dn, a mouse model of Down syndrome. T. Dutka, N. Singh, J. T. Richtsmeier, R. Reeves.

2649W   46,X,del(X)(p11.2) Turner syndrome patient with severe keratoconus. L. Gabriel, L. Junior, T. Oliveira, I. Silva, L. Chaves, C. Sousa, L. Elias, L. Mendonça, R. Filho, L. Lavigne, J. Filho, J. Jaime, M. Avila.

2650T   Heterotaxy in a woman with mosaic Turner syndrome. P. Kannan, A. E. Lin, N. S. Scott, I. Sahai.

2651F   Dilated cardiomyopathy in a patient with Pallister Killian syndrome while on a ketogenic diet. J. Lazier, J. Harder, M. A. Thomas.

2652W   Clinical and cytogenomic evaluation in two siblings with an 8.5 Mb 6q24.2q25.2 deletion inherited from a paternal insertion. M. I. Melaragno, S. S. Takeno, M. Migliavacca, A. L. Pilla, N. L. M. Sobreira, C. B. Mello, V. A. Meloni.

2653T   Developmental and growth delays, dysmorphic features and microcephaly in a child with microduplication 12q13.12. C. Melver, A. Archbold.

2654F   Diagnostic and management challenges of genetic diseases in Rwanda. L. Mutesa, A. Uwineza, J. Hitayezu, S. Murorunkwere, E. K. Rusingiza, L. Tuyisenge, R. Teteli, J. Mucumbitsi, N. Muganga, A. C. Hellin, M. Jamar, V. Bours.

2655W   Neonatal management of trisomy 13: Clinical details of 12 patients receiving intensive treatment. E. Nishi, M. Takasugi, T. Hiroma, T. Nakamura, Y. Fukushima, T. Kosho.

2656T   Estimation of live birth prevalence of Down syndrome in Japan. I. Ohashi, Y. Kuroda, M. Masuno, Y. Kuroki, K. kurosawa.

2657F   National Institutes of Health activities in Down syndrome research: From creation of a consortium to support of a patient registry, DS-Connect. M. A. Parisi, S. Bardhan, L. Kaeser, M. L. Oster-Granite, V. Rangel Miller, Y. T. Maddox.

2658W   Phenotype correlation of a patient with a large 16q23.2 to 16q24.3 duplication and a patient with a 16q23.3 to 16q24.3 duplication and small 16p13.3 deletion. J. Richer, J. McGowan-Jordan.

2659T   Predicting obstructive sleep apnea in people with Down syndrome. B. Skotko, M. McDonough, L. Voelz, D. Rosen, A. Ozonoff, E. Davidson, V. Allareddy, N. Jayaratne, R. Bruun, N. Ching, G. Weintraub, L. Albers Prock, R. Becker, D. Gozal.

2660F   Diamond-Blackfan anemia due to a RPS17 gene deletion in a child with previously detected “balanced” 15,16 translocation. J. Sullivan, S. Barry, J. Luty, M.-A. Abbott.

2661W   The Developmental Genome Anatomy Project: Annotating the human genome from balanced chromosomal rearrangements. K. E. Wong, I. Blumenthal, H. Brand, B. Currall, C. Hanscom, T. Hoyos, D. Lucente, Z. Ordulu, M. R. Stone, S. Pereira, V. Pillalamarri, L. P. Yuan, J. F. Gusella, D. J. Harris, E. C. Liao, R. L. Maas, B. J. Quade, M. E. Talkowski, C. C. Morton.

2662T   Establishing a reference group for distal 18q-: Clinical description and molecular basis. J. Cody, M. Hasi, B. Soileau, P. Heard, E. Carter, C. Sebold, L. O'Donnell, B. Perry, R. Stratton, D. Hale.

2663F   Dysmorphological characteristics of mosaic 4q31 terminal deletion: A case report. D. Torun, Y. Tunca.

2664W   Monozygotic twins with Turner syndrome and discordant phenotypes but concordant genotypes due to in utero chimerism. A. O'Donnell, T. L. Toler, J. Krier, S. E. Dukhovny, S. Eggert, S. Weremowicz, F. Bieber, A. E. Lin.

2665T   Detection of an FMR1 deletion by chromosomal microarray analysis. J. Smith, A. E. Scheuerle, L. Ellis, S. Peacock, P. Fang, A. Patel.

2666F   Microcephaly associated with duplication of chromosome 15q24. Y. Wang, Y. Zhou, D. Shrestha, E. Carter.

2667W   Elevation of insulin-like growth factor binding protein 2 level in Pallister-Killian syndrome: Implications for the postnatal growth retardation phenotype. K. Izumi, E. Kellogg, M. Kaur, A. Wilkens, I. Krantz.

2668T   Aetiology of moderate mental retardation. A. Kumar, M. Vashist.

2669F   A dyslexia case with de novo der(14)t(Y;14)(q10;q10). E. Kirat, G. Güven, M. Seven, M. Özen, E. Yosunkaya, H. Ulucan.

2670W   Computer-aided facial recognition of individuals with Angelman syndrome. L. Wolf, W. H. Tan, L. Karlinsky, M. Shohat, L. M. Bird.

2671T   Computer-aided detection of Down syndrome from facial photography. Q. Zhao, K. Rosenbaum, D. Zand, L. Kehoe, R. Sze, M. Summar, M. Linguraru.

2672F   Tetraploid/diploid mosaicism as a potential cause of hypospadias. J. C. Giltay, A. J. Klijn, M. van Breugel, L. van der Veken, R. Hochstenbach.

2673W   Domains of histone marks in monozygotic twins discordant for trisomy 21. X. Bonilla, A. Letourneau, F. A. Santoni, M. R. Sailani, M. Guipponi, C. Gehrig, S. E. Antonarakis.

2674T   Wolf-Hirschhorn syndrome: Natural history into adulthood. A preliminary study of twenty-one individuals. A. Battaglia, V. Doccini, T. Filippi, A. Lortz, J. C. Carey.

2675F   Prader-Willi syndrome and oculocutaneous albinism due to a 5;15 translocation and hemizygous OCA2 mutation. A. C. E. Hurst, C. R. Haldeman-Englert, T. H. Stamper, M. Hanna, M. J. Pettenati, P. P. Koty.

2676W   Comparing serum calcium tests in 22q11DS and other genetic conditions: Ionized vs. total calcium. E. Chow, T. Leung, M. Torsan, C. Stefan.

2677T   Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. H. Al-Kateb, G. Khanna, I. Filges, S. Kulkarni, M. Shinawi.

2678F   MED13L haploinsufficiency in isolated delayed neuromotor development: Further delineation of the phenotypic spectrum. B. Callewaert, A. Dheedene, B. Menten, B. Delle-Chiaie, E. Snauwaert, K. Decaestecker, F. Roelens, O. Vanakker.

2679W   Ear anomalies, mild intellectual disability, delayed growth and oro-dental development in a boy with a 5 Mb microduplication within 20q13.12q13.2. J. R. Helle, M. Fannemel, T. Barřy, S. Axelsson, A. B. Karstensen, E. Frengen, D. Misceo.

2680T   A novel interstitial microdeletion in 2q37 refines critical region and candidate genes for microcephaly, myelination and developmental delay expressed in human neural progenitors. J. Imitola, D. Khurana, A. Legido, K. Carvalho.

2681F   Deep white matter brain abnormalities in a patient with chromosome 15q11-q13 deletion and Angelman syndrome phenotype. N. Sekhri, G. Scharer.

2682W   Deletion 2q37: Cognitive-behavioral profiles, developmental trajectories, and IQ related to deletion size. G. S. Fisch, S. T. South, A. Rutherford, R. Falk, J. Carey.

2683T   Identification of 22q11.2 deletion in patients from adult congenital heart disease clinic — A missed burden in the transition care in Hong Kong. B. Chung, P. Chow, A. Liu, P. Lee, K. Chan, M. Tang, E. Lau, Y. F. Cheung, K. T. Chau, Y. L. Lau.

2684F   Diagnosis of atypical 22q11.2 deletion and a recurrent herpes zoster virus infection in a man with T cell immunodeficiency. L. P. Barragan Osorio, G. Giraldo, J. C. Prieto.

2685W   Clinical characteristics of a newly identified microdeletion syndrome involving chromosome region 16q22.1. L. Dupuis, M. Helal, D. J. Stavropoulos, R. Mendoza-Londono.

2686T   Microarray comparative genomic hybridization analysis as a diagnostic tool for the investigation of patients with ID/DD/ASD with or without MCA. M. Tzetis, S. Kitsiou-Tzeli, H. Frysira, V. Oikonomakis, K. Kosma, K. Giannikou, A. Syrmou, E. Kanavakis.

2687F   Mortality in patients with 22q11 microdeletion syndrome. G. M. Repetto, M. L. Guzman, M. Palomares, G. Lay-Son, C. Vial, K. Espinoza, H. Loyola.

2688W   Array-CGH: Known syndromes, private variants and new syndromes. E. Biamino, E. F. Belligni, E. Di Gregorio, C. Molinatto, A. Calcia, A. Mussa, E. Grosso, A. Zonta, M. T. Ricci, L. Sorasio, G. Mandrile, G. Gai, V. Naretto, P. Pappi, F. Talarico, A. Guala, P. Vigliano, G. Restagno, E. Savin, N. Migone, G. B. Ferrero, M. Silengo, A. Brusco.

2689T   Heterozygous microdeletion of 16q covering SALL1 and RPGRIP1L could be a novel contiguous gene syndrome with renal impairment. N. Morisada, M. Taniguchi-Ikeda, S. Ishimori, T. Ninchoji, H. Kaito, K. Nozu, M. Adachi, Y. Takeshima, T. Sekine, K. Iijima.

2690F   Fetal alcohol syndrome and Pitt-Hopkins syndrome in four maternal-half siblings. A. Asamoah, K. E. Jackson, Y. Senturias, K. Goodin, G. C. Gowans, K. Platky, J. H. Hersh.

2691W   Normal appetite and BMI in a 9 year old girl with haploinsufficiency of SIM1 due to a 2.2 MB deletion at 6q16.2-q16.3. G. A. Bellus, K. Zegar.

2692T   Lack of Nablus mask-like facial syndrome phenotype in a patient with a de novo microdeletion of chromosome 8q21.2q22.1. D. Cherukuri, B. Crandall, S. Kantarci.

2693F   MECP2 deletion in a patient with Rett Syndrome. S. S. Costa, D. Villela, C. Rosenberg.

2694W   Case report of a 17q21.31 microdeletion associated with EFTUD2 mandibulofacial dysostosis with microcephaly identified by comparative genomic hybridization. S. K. Gandomi, D. M. Reeves, M. Parra, C. L. Gau, V. Yap.

2695T   Nablus mask-like facial syndrome: 3 additional cases add support that del 8q22.1 is necessary but not sufficient to cause the classic phenotype. S. S. Jamuar, H. Duzkale, N. Duzkale, C. Zhang, F. A. High, L. Kaban, S. Bhattacharya, J. M. Stoler, A. E. Lin.

2696F   In the shadow of MEF2C: Genotype-phenotype correlation for 5q14.3q21 deletions. J. A. Rosenfeld, K. Stoate, A. Asamoah, R. R. Lebel, S. Raskin, L. Russell, J. W. Ellison, L. A. Schimmenti.

2697W   Overlapping phenotype of Silver-Russell-like and 14q32 microdeletion syndromes in a child with submicroscopic 11p15.5 duplication and 14q32 deletion. H. J. Mroczkowski, D. B. Lowenstein, H. Abdel-Hamid, D. N. Saller, A. Rajkovic, S. A. Yatsenko.

2698T   SNP arrays in idiopathic intellectual disability. E. Utine, G. Haliloglu, B. Salanci, A. Çetinkaya, P. O. Kiper, Y. Alanay, D. Aktaş, B. Anlar, M. Topçu, K. Boduroğlu, M. Alikaşifoğlu.

2699F   Bilateral cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient carrying two de novo deletions on chromosome 4q32 and 4q34 involving PDGFC, GRIA2 and FBXO8 genes. A. Brusco, A. Calcia, G. Gai, E. Di Gregorio, F. Talarico, V. G. Naretto, N. Migone, E. Pepe, E. Grosso.

2700W   Normal intelligence and features of Bardet-Biedl syndrome in a family with a duplication of chromosome 20p13-p12.1. S. M. Nikkel, A. G. Hunter.

2701T   Inherited Yq12ter deletion associated with congenital cataracts, microphthalmia and autistic spectrum disorder in 3 brothers. P. Bitoun, A. Delahaye, B. Benzacken, E. Pipiras.

2702F   Malformation variability associated to chromosome trisomies: Clinical and phenotypical implications in several patients at a pediatric hospital in Mexico. M. Barrientos, J. M. Aparicio-Rodriguez, M. L. Hurtado-Hernandez, M. A. Cubillo-Leon, S. Chatelain-Mercado.

2703W   Congenital primary microcephaly and type B-like brachydactyly: A new syndrome? A. Lavillaureix, J. Masliah-Planchon, S. Passemard, S. Drunat, A. Verloes.

2704T   Microrearrangements in individuals within the holoprosencephaly spectrum. L. A. Ribeiro-Bicudo, B. F. Gamba, C. Rosenberg, A. L. B. da Rocha, A. L. C. Gaspar, R. M. C. S. Sandri, A. Richieri.

2705F   Maternal consumption of clay during pregnancy: An unexpected cause of recurrent congenital microcephaly with intracranial calcifications in babies from French Guyana (pseudo-Aicardi-Goutière syndrome). A. Verloes, S. Passemard, V. Lambert, G. Carles, J. Goullé, A. Laquerričre.

2706W   Cystic lymphangioma in a 9-year-old boy with Sotos syndrome: Review of the tumoral risk in this overgrowth syndrome. O. Cracco, G. Jedraszak, T. Dery, B. Devauchelle, V. Strunski, L. Burglen, J. F. Ikoli, B. Demeer, M. Mathieu, A. Leke, G. Morin.

2707T   Chromosome 4 deletions and translocations among 4617 cariotype studies at a third level pediatric Mexican hospital. 4p-, 4q-, T (1; 4), T (3; 4): Six case reports. R. Zamudio, J. M. Aparicio-Rodriguez, M. L. Hurtado-Hernandez, F. Cuellar-Lopez, H. Chavez-Ozeki, S. Chatelain-Mercado.

2708F   Bench to bedside... The role of clinical genetics in the age of genomic medicine: The shifting paradigm. T. Bardakjian, A. Slavotinek, A. Schneider.

2709W   Targeted next-generation sequencing for the molecular genetic diagnostics of mandibulofacial dysostosis. Y. Kuroda, I. Ohashi, T. Saito, J. Nagai, K. Ida, T. Naruto, M. Masuno, K. Kurosawa.

2710T   FATCO syndrome: Report nine cases in Peru and case review. H. Abarca-Barriga, B. Gallardo, M. Trubnykova.

2711F   A novel mutation in the MASP1 gene causes autosomal recessive multiple congenital anomaly syndrome. H. Boulos, Y. Bejaoui, N. Khattab, Y. Al-Sarraj, M. Kambouris, H. El-Shanti.

2712W   Diagnostic criteria in Gomez-Lopez-Hernandez syndrome: Contribution of Brazilian patients. C. H. P. Grangiero, L. B. Mesqiota, J. A. Josahkian, C. M. Leveprost, M. L. M. Castro, N. R. Quaresemin, L. A. F. Laureano, A. C. Santos, J. M. Pina-Neto.

2713T   New syndrome:Brain malformations, Peters anomaly and multiple intestinal atresias. J. G. Pappas, A. L. Shanske.

2714F   Richieri-Costa and Pereira syndrome: Severe phenotype. S. Raskin, M. Souza, M. C. Medeiros, M. Manfron, D. C. Chong E. Silva.

2715W   Minor facial malformations in relatives of patients with Goldenhar syndrome. P. Santos, S. Oliveira, H. Saffatle, M. Cordoba, I. Ferrari, J. Mazzeu.

2716T   Wiedemann-Beckwith syndrome associated with pre- and postnatal supraventricular tachycardia. M. Willems, F. Brioude, S. Guillaumont, P. Amedro, M. Vincenti, O. Pidoux, N. Fries, L. Begue, C. Dumont, P. Sarda, P. Blanchet, L. Pinson, E. Haquet, J. Puechberty, G. Lefort, C. Coubes, I. Netchine, D. Genevieve.

2717F   Amyoplasia with congenital eye malformations and wrinkled skin: A new syndrome. D. F. G. J. Wolthuis, E. V. van Asbeck, H. C. Andersson, E. Morava-Kozicz, MD, PhD.

2718W   The contribution of discrepant DNA variations in discordant monozygotic twins with esophageal atresia/ tracheo-esophageal fistula. E. Brosens, R. W. W. Brouwer, D. Veenma, D. Tibboel, W. F. van IJcken, A. de Klein.

2719T   A case with single deletion of 17q21.31 involving KANSL1 gene and phenotype of CHARGE association. Y. M.. Chan, K. W. Choy, T. Y. Leung, C. A. Bacino.

2720F   Femoral-facial syndrome: Long-term follow-up and associated array CGH abnormalities. A. Jacquinet, H. Valdes-Socin, C. Libioulle, J. H. Caberg, A. Verloes.

2721W   Identification of mosaic activating mutations in overgrowth syndromes using a customized next-generation sequencing panel on both prenatal and postnatal samples. L. Liu, F. Chang, E. Fang, G. Zhang, M. M. Li.

2722T   Novel GATA4 promoter polymorphism associated with congenital heart disease in South Indian patients. S. Mattapally, K. S. Murthy, S. Nizamuddin, K. Thangaraj, S. K. Banerjee.

2723F   Trying to unravel the etiology of multiple midline congenital anomalies misdiagnosed as VACTERL. E. M. Pereira, M. P. Ramos, J. M. Greally, R. W. Marion.

2724W   Associated malformations among patients with urinary congenital anomalies. C. Stoll, B. Dott, Y. Alembik, M.-P. Roth.

2725T   A new case of Crane-Heise syndrome with comparative review of literature. A. Handel, K. Fay, M. Costaldi, R. Lebel.

2726F   Pathogenic CNVs and causative gene analysis by SNP arrays as the third screening for 646 patients with intellectual disability and multiple congenital anomalies of unknown etiology. D. T. Uehara, S. Hayashi, J. Inazawa.

2727W   The oculoauriculovertebral spectrum: Refining the estimate of birth prevalence. M. T. Gabbett.

2728T   Initial data for benign CNVs distribution in Bulgarian patients. S. P. Hadzhidekova, D. M. Avdjieva-Tzavella, B. B. Rukova, D. V. Nesheva, R. S. Tincheva, D. I. Toncheva.

2729F   Novel autosomal-recessive syndrome with short stature, distinct facial appearance, myopia, retinitis pigmentosa, bilateral hearing loss, and mild intellectual disability. E. Schrock, T. M. Neuhann, I. Neuhann, A. Bier, B. Novotna, N. Di Donato.

2730W   The use of exome sequencing to disentangle complex phenotypes. H. J. Williams, C. Baccheli, J. Hurst, F. Lescai, L. Ocaka, C. James, C. Pao, E. Rosser, P. Beales.

2731T   Association study of genetic polymorphisms in DNA repair genes APE1/Ref-1 and DNA oxidative damage with the risk of neural tube defects. J. Wang, X. Han, J. Guo, X. Wang, F. Wang, C. Ji, Z. Guan, Q. Xie, Z. Zhu, B. Niu, T. Zhang.

2732F   Whole exome sequencing of a girl with Rubinstein-Taybi syndrome. H. Yoo, K. Kim, I. Kim, S. Rho, J. Park, S. Kim, N. Kim.

2733W   A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. S. Miyatake, A. Murakami, N. Okamoto, M. Sakamoto, H. Saitsu, N. Miyake, N. Matsumoto.

2734T   Molecular investigations of Polish patients with Beckwith-Wiedemann syndrome. D. Jurkiewicz, M. Kugaudo, A. Tańska, E. Ciara, D. Piekutowska-Abramczuk, M. Pelc, S. Łuczak, J. Trubicka, M. Borucka-Mankiewicz, P. Kowalski, A. Jezela-Stanek, A. Cieślikowska, K. Chrzanowska, M. Krajewska-Walasek.

2735F   Gynecologic issues in patients with Smith-Lemli-Opitz syndrome. M. A. Merideth, S. K. Conley, F. D. Porter.

2736W   Maternal uniparental disomy 16 in an infant with intrauterine growth retardation, dysmorphic features, multiple congenital anomalies and dermatoglyphics features suggestive of chromosomal abnormalities: A neglected consideration. Y. Lacassie, M. Narayanan.

2737T   Audiovestibular findings in myotonic dystrophy type 1 patients from the National Rehabilitation Institute. M. Arenas-Sordo, B. Rivera-Mercado, D. Gutierrez-Tinajero, A. Martínez-García-Ramos, M. Trujillo-Bracamontes, O. Hernandez-Hernandez, J. Magańa-Aguirre.

2738F   A case of nonsyndromic hearing-impairment with GJB2 (S199F) homozygous mutation. G. Giraldo, L. P. Barragan Osorio, J. C. Prieto.

2739W   Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. R. Kosaki, T. Takenouchi, N. Takeda, M. Kagami, K. Nakabayashi, K. Kosaki.

2740T   Establishment and validation of iPS cells and knockout mice for dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome. T. Kosho, F. Yue, S. Saka, N. Tsumita, Y. Kasahara, T. Okada, S. Mizumoto, M. Kobayashi, J. Nakayama, N. Miyake, Y. Nomura, T. Era, A. Hatamochi, F. Fukushima, N. Matsumoto, K. Sugahara, K. Sasaki, S. Takeda.

2741F   Report of a Colombian case of Werner mesomelic syndrome with eight fingers in both hands and feet. J. C. Prieto, G. Giraldo, T. Pineda.

2742W   A novel WNT7A mutation causes autosomal recessive Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Y. Sahin, P. O. Simsek-Kiper, A. Cetinkaya, G. E. Utine, K. Boduroglu.

2743T   Three generation family with kyphomelic dysplasia suggests autosomal dominant inheritance. O. Vanakker, U. Fränkel, B. Callewaert.

2744F   Further evidence of brain anomalies related to ALX4 mutations: Possible genotype-phenotype correlation. T. Almeida, M. Valente, G. L. Yamamoto, C. A. Kim, M. R. Passos-Bueno, D. R. Bertola.

2745W   Further occurrence of “TMCO1 defect syndrome” in a non-Amish population: The first South American patient presenting the same p.R87X mutation recently found in a Turkish individual. W. A. R. Baratela, G. L. Yamamoto, M. R. Passos-Bueno, D. R. Bertola.

2746T   Sibs with hydrops fetalis, arthrogryposis multiplex congenital, neuronal migration disorder, adrenal and pulmonary hypoplasia and renal abnormalities associated with a mutation in the FAT4 gene, encoding a giant cadherin. D. Chitayat, T. Uster, P. Shannon, M. Srour, S. Robertson, J. Michaud.

2747F   Genetic heterogeneity in Mabry syndrome: A novel phosphatidylinositol glycan (GPI) anchor deficiency disorder. D. Cole, T. Roscioli, M. Nezarati, E. Sweeney, P. N. Krawitz, H. van Bokhoven, C. Marcelis, B. DeVries, D. Andrade, W. M. Burnham, A. Munnich, M. Thompson.

2748W   Exome sequencing of the X-chromosome in Aicardi syndrome. C. Lund, H. S. Sorte, Y. Sheng, M. D. Vigeland, O. Rřsby, K. K. Selmer.

2749T   Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. V. Mahajan, B. Darbro, L. Gakhar, J. Skeie, E. Campbell, S. Wu, X. Bing, K. Millen, W. Dobvns, J. Kessler, A. Jalali, J. Cremer, A. Segre, J. Manak, K. Aldinger, S. Suzuki, N. Natsume, M. Ono, H. Dai Hai, L. Thi Viet, S. Loddo, E. Valente, L. Bernardini, N. Ghonge, P. Ferguson, A. Bassuk.

2750F   Mapping a new locus for autosomal dominant nonsyndromic comitant strabismus. M. Patel, X. Ye, C. Shyr, Z. Zong, M. Thomas, P. Power, N. Roslin, S. Narasimhan, D. Giaschi, W. Wasserman.

2751W   Exome sequencing identifies mutations in a gene not previously related to skeletal dysplasias in patients with spondylometaphyseal dysplasia. G. L. Yamamoto, W. A. R. Baratela, T. F. de Almeida, C. A. Kim, M. R. S. Passos-Bueno, D. R. Bertola.

2752T   A novel missense mutation in PRPS1 leads to PRS-I deficiency in females displaying retinitis pigmentosa and variable expression of a neurologic phenotype. B. Almoguera, J. Liang, P. Fernandez, M. Corton, Y. Guo, B. Keating, J. Zhang, H. Hakonarson, X. Xu, C. Ayuso.

2753F   Mutation analysis of androgen receptor gene: A complementary molecular approach in management of androgen insensitivity syndrome. F. Baghbani-arani, A. Shojaei, F. Behjati, R. Ebrahimzadeh-Vesal, J. Tavakkoly-Bazzaz.

2754W   Ocular findings in the Marfan syndrome. I. H. Maumenee, S. Wehrli, W. W. Xu, S. Rahmani, S. Kurup, I. Kassem, M. K. Durbin, N. Azar, A. A. Fawzi, A. Lyon, M. B. Mets, Chicago Marfan Eye Consortium.

2755T   Peace sign craniosynostosis: A novel presentation in association with Saethre-Chotzen syndrome. D. M. McDonald-McGinn, N. Bastidas, A. Santani, C. Stolle, C. Bergfield, S. Bartlett, E. H. Zackai.

2756F   Characterization of three families with provisional diagnosis of autosomal dominant retinitis pigmentosa using whole exome sequencing. L. Vazquez, J. Liang, B. Almoguera, X. Liu, P. Fernandez, Y. Guo, M. Corton, B. Keating, X. Xu, C. Ayuso, H. Hakonarson, J. Wang.

2757W   Unexplained persistently elevated liver transaminase levels — A presenting feature for Duchenne/Becker muscular dystrophy. J. A. Wilkinson, M. Martin, B. Hay.

2758T   Phenotypic evolution in Börjeson-Forssman-Lehmann syndrome: Serial photos, endocrine findings and dermatologic observations. G. Graham, N. Carson, D. Picketts.

2759F   Identification of a missense mutation in the MBTPS2 gene as the cause of X-linked form of Olmsted syndrome. A. Haghighi, C. Scott, D. Poon, R. Yaghoobi, N. Saleh-Gohari, V. Plagnol, D. Kelsell.

2760W   Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome? B. Isidor, A. David, Y. Crow.

2761T   Psychological and cognitive profile in four new patients with MOMO syndrome. C. Passalacqua, M. Garcia, L. Dueńas.

2762F   Pregnancy in autosomal recessive polycystic kidney disease/congenital hepatic fibrosis. N. Banks, J. Bryant, R. Fischer, M. Huizing, W. Gahl, M. Gunay-Aygun.

2763W   X-linked Joubert syndrome: Neuroimaging and clinical features associated with a novel mutation in OFD1. B. Hashemi, H. M. Branson, M. Moharir, G. Yoon.

2764T   Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder. G. Bhat, D. LaGrave, A. N. Lamb, R. Matalon.

2765F   A four generation family with a novel HRAS mutation and predominantly ectodermal findings of Costello syndrome. D. Earl, S. Wallace.

2766W   Muenke syndrome: Phenotype variability of P250R mutation in FGFR3 gene. T. Felix, T. W. Kowalski, J. Ferrari, L. T. Souza, M. T. V. Sanseverino, M. V. Collares, V. S. Mattevi.

2767T   Investigations on the molecular genetic etiology of Mayer-Rokitansky-Kuster-Hauser syndrome in two cousins using exome sequencing. M. Herlin, S. P. Jonstrup, A. T. Hřjland, I. S. Pedersen, P. H. Madsen, A. Ernst, H. Okkels, V. Q. Le, H. Krarup, M. B. Petersen.

2768F   Novel patient with cutis laxa, fat pads and retinopathy due to ALDH18A1 mutations and review of the literature. E. V. van Asbeck, D. F. G. J. Wolthuis, M. Mohamed, T. Gardeitchik, E. Morava.

2769W   Missense mutation of MAF in a Japanese family with congenital cataract. Y. Narumi, S. Nishina, M. Tokimitsu, Y. Aoki, R. Kosaki, T. Kosho, T. Murata, F. Takada, Y. Fukushima.

2770T   Clinical and mutational spectrum of type II collagenopathy patients in Korea. E. Ra, H. Park, S. H. Seo, S. I. Cho, T. J. Cho, N. Park, M. W. Seong, S. S. Park.

2771F   Clinical spectrum of eye malformations in 4 new patients with Mowat Wilson syndrome. A. Bourchany, I. Giurgea, J. Thevenon, A. Goldenberg, G. Morin, D. Bremond-Gignac, P.-O. Lafontaine, D. Thouvenin, J. Massy, A. Masurel-Paulet, C. Thauvin-Robinet, S. El Chehadeh, S. Lyonnet, L. Faivre.

2772W   A case of autosomal dominant cutis laxa within a familial context of consanguinity. M. B. Duz, A. Gezdirici, E. Koparir, E. Yosunkaya, H. Ulucan, M. Seven, A. De Paepe, P. J. Coucke, B. Calleweart, M. Ozen.

2773T   Weaver syndrome: Variable expression and natural history in a three generation family with documented EZH2 mutation. H. Hoyme, A. R. Mroch, P. L. Crotwell, Y. E. Hsia, L. Hasegawa, S. Lee, L. H. Seaver.

2774F   Xeroderma pigmentosum complementation group B / trichothiodystrophy spectrum in two siblings with ERCC3 mutations. M. Migliavacca, N. Sobreira, S. Bragagnolo, M. Ramos, D. Valle, A. Perez.

2775W   Craniofacial phenotypes in cutis laxa. Z. Urban, C. Lorenchick, T. E. Parsons, K. Levine, S. Madan-Khetarpal, S. M. Weinberg.

2776T   Expanding the RAD21 mutational spectrum: Report of the first intragenic deletion and frameshift mutation in two patients with a mild form of Cornelia de Lange syndrome. A. Minor, M. Shinawi, J. S. Hogue, D. R. Hamlin, C. Tan, K. Donato, L. Wysinger, S. Botes, S. Das, D. del Gaudio.

2777F   Two novel mutations in a patient with rhizomelic chondrodysplasia punctate type 1. H. Onay, M. Saka Guvenc, T. Atik, A. Aykut, O. Cogulu, F. Ozkinay.

2778W   Hereditary multiple osteochondromas: Molecular characterization of three Cypriot families and report of two novel EXT1 gene deletions. G. A. Tanteles, V. Neocleous, C. Shammas, E. Ellina, L. A. Phylactou, C. Sismani, V. Anastasiadou-Christophidou.

2779T   First molecular study of Kindler syndrome in three Iranian families: Novel and recurrent mutations in the FERMT1 gene. H. Vahidnezhad, L. Youssefian, A. Yazdanfar, A. M. Kajbafzadeh, F. Agha-Hosseini, M. Tabrizi.

2780F   Genotype-phenotype relationships in Freeman-Sheldon syndrome. A. E. Beck, M. J. McMillin, H. I. S. Gildersleeve, K. M. B. Shively, M. J. Bamshad.

2781W   A 24bp deletion in ELN causing a Marfan-like phenotype. J. Hoyer, C. Kraus, A. Reis.

2782T   Multiple pterygium syndrome, Escobar variant, in a patient with a congenital diaphragmatic hernia and prenatally-diagnosed arthrogryposis. A. L. Sutton, M. D. Descartes.

2783F   Congenital dyserythropoieic anemia type 1 presenting with blueberry muffin rash and profound anemia. L. Turner, L. Goodyear, L. Bowes, S. Fernandez, A. Hogg.

2784W   Whole exome sequencing uncovers mutations in MYH9 associated with expanded phenotype spectrum. C. Kao, J. Liang, A. Alodaib, Y. Guo, L. Tian, X. Liu, L. Dai, B. Keating, M. Menezes, W. Gold, M. Wilson, L. Ades, J. Zhang, A. Kakakios, J. Wang, H. Hakonarson, J. Teo.

2785T   Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy and pulmonary fibrosis. S. Mercier, S. Küry, G. Shaboodien, D. Houniet, N. Khumalo, J.-M. Mussini, E. Salort-Campana, D. Figarella, N. Bodak, A. Munnich, R. Gherardi, V. Cormier-Daire, C. Thauvin, L. Faivre, K. Pillay, C. Bou-Hanna, C. Laboisse, A. Hamel, A. Magot, C. Le Caignec, A. David, S. Barbarot, B. Keavney, S. Bézieau, B. Mayosi.

2786F   Identification of human MALT1 deficiency and role of the NF-kappa B pathway in a novel autosomal recessive immune deficiency and dysregulation disorder. M. L. McKinnon, J. Rozmus, S. Fung, A. Hirschfeld, K. Del Bel, L. Thomas, N. Marr, S. Martin, C. Senger, A. Tsang, J. Prendiville, A. Junker, M. Seear, K. Schultz, L. Sly, R. Holt, M. Patel, J. M. Friedman, S. Turvey.

2787W   Familial occurrence of multiple isolated epidermal inclusion cysts: Evidence for X-linked inheritance? J. Jenkins, K. Horii, H. Ardinger.

2788T   Intragenic deletion of NPAS3 in a child with developmental delay. C. Armour, E. Baxter, J. McGowan-Jordan.

2789F   Dyggve-Melchior-Clausen syndrome in three generations. B. Bozorgmehr, A. Kariminejad.

2790W   Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum. R. Dhamija, J. Graham, E. Thorland, S. Kirmani.

2791T   FOXP1 mutations cause intellectual disability and a recognizable phenotype. M. F. Hunter, A. K. Le Fevre, S. Taylor, N. H. Malek, D. Horn, C. W. Carr, O. A. Abdul-Rahman, S. O’Donnell, T. Burgess, M. Shaw, J. Gecz, N. Bain, K. Fagan.

2792F   CTNNB1 mutation in siblings with intellectual disability, spasticity and microcephaly. D. Tegay.

2793W   Molecular genetic characterization of INSR in a family with Rabson-Mendenhall syndrome. P. Kantheti, S. Agadi, Y. Gowda.

2794T   Microarray analysis of a de novo microdeletion involving the Van der Woude syndrome locus. E. C. Tan, E. C. P. Lim, S. T. Lee.

2795F   A novel TPM3 gene muation with infantile nemaline myopathy. S. O. Nam, J. H. Shin, Y. J. Lee.

2796W   Male infant with Freeman-Sheldon syndrome and an incidental diagnosis of Duchenne/Becker muscular dystrophy. K. Oishi, E. Quinn, M. Babcock, L. Edelmann, S. Scott, A. Yang, G. Diaz.

2797T   Whole exome sequencing identifies a homozygous mutation in the SPG11 gene in patients with spastic paraplegia. V. Adir, A. Shalata, E. Shahak, Z. U. Borochowitz.

2798F   Identification of a new hypouricemia patient with a pathogenic GLUT9/SLC2A9 mutation (R380W). M. Sakiyama, H. Matsuo, T. Chiba, A. Nakayama, Y. Kawamura, S. Shimizu, N. Hamajima, N. Shinomiya.

2799W   The manifestation of Mowat-Wilson syndrome in adult identical twins. S. Ramanathan, S. A. Ashwal, R. D. Clark.

2800T   Occurrence of recurrent optic neuritis and cervical cord Schwannoma with Charcot-Marie-Tooth type 4B1 disease: A case report. P. Scott, F. Almurshedi.

2801F   Novel homozygous missense mutation in the matrix metalloproteinase 2 catalytic domain leading to protein loss-of-function in two Italian sibs in the spectrum of Torg-Winchester syndrome. J. Azzollini, D. Rovina, C. Gervasini, I. Parenti, A. Fratoni, L. Pietrogrande, L. Larizza.

2802W   A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation. B. Demeer, G. Guillaume Jedraszak, M. Girard, A. Mellos, D. Djeddi, C. Chardot, A. Varenterghem, M. P. Moizard, J. Gondry, H. Sevestre, M. Mathieu-Dramard, F. Lacaille.

2803T   Exome sequencing of a proband with bilateral sensorineural hearing loss furthers insights into phenotypic variability of Waardenburg syndrome. A. Wilkens, M. Dulik, N. Qu, K. Wang, J. Brunton, V. Jayaraman, E. Dechene, N. Spinner, W. Liu, I. Krantz.

2804F   Use of quantitative ultrasound for tibial dysplasia in neurofibromatosis type 1. D. A. Stevenson, H. Slater, H. Hanson, A. Stevens, J. C. Carey, D. H. Viskochil.

2805W   New syndrome of ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutation identified by exome sequencing. C. P. Barnett, N. J. Nataren, M. Klingler-Hoffmann, Q. Schwarz, D. L. Bruno, J. Lipsett, A. J. McPhee, A. W. Schreiber, J. H. Feng, C. N. Hahn, H. S. Scott.

2806T   A GC polymorphism associated with serum 25(OH)D level is the risk for hip fracture in Japanese patients with rheumatoid arthritis. S. Yoshida, K. Ikari, T. Furuya, Y. Toyama, A. Taniguchi, H. Yamanaka, S. Momohara.

2807F   Fetal alcohol syndrome and assessment of maxillary and mandibular arc measurements. K. Abell, W. May, P. May, W. Kahlberg, G. Hoyme, O. Abdul-Rahman.

2808W   Genetic analysis of gonadal disorders of sex development (46,XY DSD) by cytogenetic and molecular methods. A. Shojaei, F. Baghbani-Arani, R. Ebrahimzadeh-Vesal, F. Behjati, J. Tavakkoly-Bazzaz.

2809T   Beckwith-Wiedemann syndrome: A familial case report. M. A. Aceves-Aceves, I. M. Salazar-Dávalos, M. G. González-Mercado, R. E. Jiménez-Arredondo, S. A. Alonso-Barragán, M. Salazar-Páramo, N. O. Dávalos, D. García-Cruz, C. Roa, I. P. Dávalos.

2810F   Gastric necrosis and dilation with or without rupture a cause of death in Prader-Willi syndrome: Three new case reports with a review of the mortality literature and an update in causes of death in PWS. J. A. Gold, R. T. Rivera, J. Heinemann, A. Scheimann, P. J. Gold, S. B. Cassidy, J. L. Miller.

2811W   The coordination of rare diseases at Sanford (CoRDS) patient registry for all rare diseases and those undiagnosed. E. A. Donohue, N. A. Simpson, R. M. Bourscheid, D. A. Pearce.

2812T   Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome. Y. Negishi, A. Hattori, E. Takeshita, C. Sakai, N. Ando, T. Ito, Y. Goto, S. Saitoh.

2813F   Defining the undefined congenital myopathies: Pathological findings and clinical features. L. C. Swanson, P. D. S. C. Ciarlini, A. H. Beggs.

2814W   Molecular and clinical study of 30 Angelman syndrome patients with UBE3A mutations. K. Hosoki, S. Saitoh.

2815T   Stargardt disease, a clinical description. L. Mora, M. Tamayo, F. Rodriguez, M. Valencia.

2816F   Mixed phenotype of incontinentia pigmenti and anhidrotic ectodermal dysplasia with immunodeficiency in a patient with duplication of the IKBKG gene. A. Ramalingam, E. van Asbeck, T. J. Chen, E. Morava.


Prenatal, Perinatal and Reproductive Genetics

 

2817W   Single molecule targeted sequencing of long fragments (>1kb) for ovarian hypersensitivity syndrome. F. Orkunoglu-Suer, A. Harralson, D. Frankfurter, P. Gindoff, E. Hoffman, T. J. O’Brien.

2818T   Myocardial thickness and ventricular Tei index by echocardiography among normal developing fetuses. Y.-H. Zhang, Q.-Y. Cao, J. Ge, N. Zhong.

2819W   Harlequin ichtyosis: A rare case of two consecutive harlequin ichthyosis in the offspring of a sequindigravida. O. Franciska, R. Santos.

2820T   Prenatal presentation of fetal anemia associated with εγδβ -thalassemia: Two new cases. E. Gagne, Y. Sabr, M. F. Delisle, N. Kent, T. Nelson, L. A. Brown, K. Schlade-Bartusiak, P. C. Rogers, S. Pritchard, L. D. Wadsworth, N. Au.

2821W   Aicardi-Goutières syndrome carrier screening in Ashkenazi Jewish families. C. Jalas, A. Fedick, C. Landau, C. Halberstam, A. Shaag, W. K. Chung, J. G. Pappas, E. S. Moran, J. Roberts, N. R. Treff, M. Szynkiewicz, G. Rice, Y. J. Crow, O. Elpeleg, S. Edvardson.

2822T   Quantification of total and fetal cell-free DNA in patients with abnormal maternal serum screen parameters. I. Manokhina, T. K. Singh, M. Peńaherrera, W. P. Robinson.

2823W   De novo mutations in embryonic development and early lethality. A. Hoischen, C. Serra-Juhé, C. Gilissen, M. Steehouwer, J. A. Veltman, L. A. Pérez-Jurado.

2824T   Non-invasive prenatal Sscreening: Are we providing a false sense of security? S. Klugman, B. Suskin, K. Erskine, N. Kirshenbaum, S. Dolan.

2825W   Two unrelated cases of female fragile X carriers with proximal duplication of non-repetitive DNA sequence within the CGG repeat region of the FMR1 gene. J. Skeen, J. Coppinger, J. McCarver, R. Cao, S. Filipovic-Sadic, L. Schnetzler, D. Sevilla, J. Weisberger, A. Hadd, S. Nolin, R. Zimmerman, G. Latham.

2826T   Non-invasive prenatal testing: Proceed with caution. A case of trisomy 18 mosaicism in a phenotypically normal newborn. H. Welsh, H. Ardinger, M. Begleiter, L. Zhang, L. Cooley.

2827W   Detection of carriers of rare and novel mutations using next-generation DNA sequencing. V. Greger, C. J. Kennedy, K. Casey, N. Chennagiri, C. Perreault-Micale, S. Hallam.

2828T   Cree leukoencephalopathy and Cree encephalitis carrier screening: Retrospective evaluation of a population-based program. A. M. Laberge, J. Leclerc-Blain, G. A. Mitchell, B. Wilson, A. Bearskin, V. Gosselin, J. Torrie, A. Richter.

2829W   Y-chromosome partial deletions and male infertility in Indian sub-continent. S. Rajender, D. Jaiswal, K. Kumar, D. S. Rani, K. Singh, R. Dada, K. Thangaraj.

2830T   MTHFR C677T polymorphism in Mexican patients with polycystic ovary syndrome. I. M. Salazar-Dávalos, N. Suárez-Magańa, J. P. Mena, M. Salazar-Páramo, E. Chávez, M. A. Aceves-Aceves, N. O. Dávalos, M. G. González-Mercado, F. Grover-Páez, I. P. Dávalos.

2831W   Gene-environment interaction in adverse reproductive outcomes. B. D. Banerjee.

2832T   Trans-ethnic GWAS of pelvic organ prolapse among African American and Hispanic postmenopausal women of the Women’s Health Initiative. D. R. Velez Edwards, R. M. Ward, A. Giri, K. E. Hartmann, A. J. Park, C. L. Avery, R. Wallace, G. Bareh, L. Qi, M. J. O'Sullivan, A. Reiner, T. L. Edwards, J. M. Wu.

2833W   The genetic predisposition for uterine leiomyomas in recently admixed populations: A preliminary study in individuals from electronic medical records. J. Jeff, G. Belbin, D. Ruderfer, E. Stahl, S. Purcell, E. Bottinger, R. Loos, O. Gottesman, E. Kenny.

2834T   Role of Shigella in etiology of endometriosis. M. Latha, V. Kutala, Q. Hasan, V. Kodati.

2835W   Identification of differentially expressed non-peptide metabolomic molecules with metabolomics approach in pregnancy-induced hypertension syndrome. X.-C. Luo, J. Pan, X.-G. Tao, X.-L. Zhao, Y. Gu, Q.-X. Shi, N. Zhong.

2836T   Admixture mapping study of uterine fibroids finds evidence for fibronectin and diabetes genes. K. S. Tsosie, D. R. Velez Edwards, T. L. Edwards.

2837W   The Kallmann syndrome gene WDR11 and binding partner EMX1 are expressed in hypothalamic and gonadal tissues. E. K. Ko, S. D. Quaynor, L. P. Chorich, H. G. Kim, S. H. Kim, R. S. Cameron, L. C. Layman.

2838T   Understanding the genetics of spermatogenic failure by resequencing the sex chromosomes of infertile men. R. George, J. Hughes, L. Brown, L. Lin, D. Koboldt, R. Fulton, R. Wilson, R. Oates, S. Silber, S. Repping, D. Page.

2839W   Mutations in the kallikrein related peptidase-3 (KLK3) gene affect semen parameters in Indian men. N. Gupta, D. V. S. Sudhakar, S. N. Sankhwar, N. Gupta, K. Thangaraj, S. Rajender.

2840T   Expression quantitative trait (eQTL) mapping in mid-secretory phase endometrial cells identifies candidate genes for recurrent early pregnancy loss. C. L. Kagan, G. Kosova, K. Patterson, M. D. Stephenson, C. Ober.

2841W   The clinical analysis of relationship between sperm DNA damage and sperm parameters. F. Kaplan, S. Aydos, B. Altinok Zaim, I. Yükselen, Y. Yükselten, A. Sunguroğlu, K. Aydos.

2842T   Quantitative analysis of mixtures by deep sequencing of HLA gene amplicons using next-generation systems. B. N. Hoglund, M. Rastrou, D. Goodridge, H. A. Erlich, C. L. Holcomb.

2843W   Screening models for early detection of late-onset preeclampsia with various markers in low-risk pregnancy population. H. J. Park, D. H. Cha, S. H. Kim, S. S. Shim, J. Y. Kim, Y. K. Cho, K. J. Lee.

2844T   First live birth in Hong Kong after preimplantation genetic diagnosis on a disease-predisposition mutation carrier with a novel genomic deletion in BRCA2. Q. Wang, J. Chow, W. Yeung, E. Lau, V. Lee, E. Ng, P. C. Ho.

2845W   Embryo SNP array genotyping: A model for preimplantation diagnosis in human. F. Campagnari, Y. T. Utsunomiya, A. S. Carmo, J. A. Vinsintin, J. F. Garcia, C. Rosenberg, R. V. Alonso.

2846T   KaryoLite® — A rapid single cell screening assay to simultaneously detect aneuploidies for all chromosomes from whole-genome amplified DNA from 3 day blastomeres. S. Dallaire, R. Walker, M. Schermer.

2847W   Quebec perspectives on the medical and social uses of preimplantation genetic diagnosis and on the current service deliveries. F. Duplain-Laferričre, R. Drouin, C. Bouffard.

2848T   Notchless impacts multiple signaling pathways during pre-implantation development. C.-L. Lo, A. C. Lossie, J. B. Sherrill.

2849W   The first report of a viable, 35-week gestation pregnancy following the transfer of a genetically normalized blastocyst: Embryo normalization can occur during differentiation to the blastocyst stage. W. G. Kearns, M. St. Amant, B. Welch, J. Carter, A. Potts, P. R. Brezina, A. T. Benner, K. J. Tobler, G. R. Cutting, R. P. Dickey.

2850T   Stability testing of a noninvasive prenatal test in a clinical setting — The MaterniT21™ PLUS laboratory-developed test. R. C. Tim, J. A. Tynan, T. J. Jensen, L. Cagasan, V. Lu, L. Liu, S. Sovath, M. Riviere, P. Oeth, M. Ehrich.

2851W   Identification of pathogenic CNV by arrayCGH in prenatal cases with oral clefts. Y. Cao, Z. Li, J. Rosenfeld, A. Patel, J. Huang, X. Sun, T. Y. Leung, S. W. Cheung, K. W. Choy.

2852T   Assessing the utilization and distribution of an evidence-based resource recommended in the 2013 American College of Medical Genetics and Genomics statement on noninvasive prenatal screening for fetal aneuploidy. S. Meredith, B. Skotko, C. Brasington.

2853W   Exploring placental gene expression pattern in abnormal fetal growth. A. Sabri, C. H. M. Ng, D. Lai, A. D’Silva, J. Kaur, J. A. Hyett.

2854T   Diagnostic dilemma: Fetal cardiomyopathy presenting at a late gestational age. B. Suskin, K. Bajaj, M. Rosner, P. Dar, S. Klugman.

2855W   Improving efficiency and cost of next-generation sequencing of maternal cell free DNA for the detection of fetal aneuploidy. L. Chitty, J. Weir, C. Boustred, S. Fielding, F. McKay, H. White, Z. Kingsbury, S. Humphray, E. Tsogka, N. Lench, J. Betley.

2856T   Cordocentesis: An alternative prenatal procedure for women who missed amniocentesis in developing regions of China. Q. Cao, J. Ge, Y.-Y. Peng, E. C. Jenkins, W. T. Brown, N. Zhong.

2857W   Single nucleotide polymorphism-based non-invasive prenatal testing detects triploidy: Two case studies. Z. Demko, M. P. Hall, M. Hill, B. Zimmermann, S. Sigurjonsson, M. Rabinowitz.

2858T   Prenatal diagnosis of 23 cases of microduplication 22q11.2. C. Dupont, F. Grati, K. W. Choy, S. Jaillard, J. Toutain, M. L. Maurin, J. A. Martinez-Conejero, C. Beneteau, D. Molina-Gomes, N. Horelli-Kuitunen, A. Aboura, C. Baumann, E. Blondeel, B. Bessieres-Grattagliano, A. C. Tabet, G. Simoni, B. Benzacken, F. Vialard.

2859W   Validation of epigenetic marker for noninvasive prenatal diagnosis of fetal trisomy 18. D. E. Lee, S. Y. Kim, J. H. Lim, H. J. Kim, S.. Park, H. M. Ryu.

2860T   Highly accurate non-invasive detection of fetal aneuploidy for chromosomes 13, 18, 21, X and Y. B. Levy, S. McAdoo, B. Zimmermann, M. Banjevic, B. Pettersen, M. Hall, Z. Demko, M. Hill, M. Rabinowitz.

2861W   Disease-specific characteristics of fetal epigenetic markers for non-invasive prenatal diagnosis of trisomy 21. J. Lim, D. Lee, S. Park, D. Kim, H. Kim, H. Ahn, S. Lee, K. Choi, M. Kim, H. Ryu.

2862T   The concerns of health professionals and pregnant women involving the non-invasive prenatal diagnosis of trisomy 21 in Quebec and in France. A. K. Maglo, R. Drouin, J. M. Moutquin, C. Bouffard.

2863W   A single nucleotide polymorphism-based approach to non-invasive prenatal testing identifies lingering cell-free fetal DNA in pregnancies with vanishing twins. S. McAdoo, M. Savage, M. P. Hall, B. Zimmermann, S. Sigurjonsson, Z. Demko, M. Rabinowitz.

2864T   A key role for amniotic fluid citrulline analysis in the prenatal diagnosis of citrullinemia type I. M. J. Miller, V. R. Sutton, Q. Sun, S. H. Elsea.

2865W   Experience using a rapid assay for aneuploidy and microdeletion detection in over 2900 prenatal specimens. S. Sulpizio, S. A. Morton, A. M. Bandholz, L. D. McDaniel, R. A. Schultz, B. S. Torchia, J. B. Ravnan, J. W. Ellison, P. Mowery-Rushton, J. A. Rosenfeld.

2866T   Methods for fetal fraction quantification in circulating cell-free DNA sequencing libraries. J. Tynan, G. Hogg, J. Fox, P. Iyer, M. Ehrich.

2867W   Prenatal MLPA screening and aCGH analysis detected cytogenomic abnormalities in four cases with fetal ultrasound anomalies. J. Xie, Z. Xu, Q. Geng, F. Xu, P. Li.

2868T   Chinese Alliance of Translational Medicine for Maternal and Children’s Health: A unique resource for longitudinal cohort study of pregnancies. J. Pan, Q.-X. Shi, Y. Gu, X.-C. Lou, M.-F. Hua, N. Zhong.

2869W   Integrative transcriptome analysis reveals dysregulation of canonical cancer molecular pathways in placenta leading to preeclampsia. R. Moslehi, J. L. Mills, C. Signore, A. Kumar, X. Ambroggio, A. Dzutsev.

2870T   TLR SNP T399I and early gestational age in a Wisconsin population of black newborn infants. D. Pillers, M. Baker, S. Schrodi, L. Zyduck, J. DeValk, B. Pattnaik, S. Tokarz.

2871W   Copy number variation of RYR1 locus, which is involved in myomentrial contraction and relaxation, is associated with preterm births. M. Liu, Y. Chen, N. Zhong.

2872T   LncRNA pathways involved in premature preterm rupture of membrane. Q. Shi, X.-C. Luo, Y. Gu, J. Pan, N. Zhong.

2873W   Functional validation of severe ciliopathies in a cohort of terminated pregnancies. F. W. Verheijen, R. Oegema, L. M. van Unen, J. M. Verhagen, K. M. Diderich, M. L. van der Sterre, R. M. Hofstra, G. M. Mancini.

2874T   An inverse association between telomere lengths and gestational age. H. Naderi, K. Ryckman, J. Dagle, J. Murray.

2875W   Case report of a pregnant woman with inherited thrombocytopenia associated with MYH9 mutation. O. Samura, T. Mizunoe, S. Kunishima.

2876T   KIR2DL4 polymorphism and perinatal HIV-1 transmission. C. Czarnecki, E. Rossnagel, S. Ramdahin, J. Embree, F. Plummer, M. Luo.

2877W   Genome-wide association study identifies more than 10 loci associated with hypospadias. F. Geller, B. Feenstra, L. van der Zanden, A. Nordenskjöld, L. Carstensen, I. van Rooij, I. Baranowska-Körberg, T. Schnack, M. Melbye.

2878T   Simultaneous uniparental disomy of chromosome 5 and 16: A case report. H. Akar, D. Torun, Y. Tunca.

2879W   Proviral loads of human T-cell leukemia virus type 1 in the peripheral blood samples from carrier pregnant women. N. Fuchi, K. Miura, T. Tsukiyama, D. Sasaki, N. Inokuchi, K. Yanagihara, S. Kamihira, H. Moriuchi, K. Yoshiura, H. Masuzaki.

2880T   Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy. A. Higashijima, K. Miura, H. Mishima, A. Kinoshita, O. Jo, S. Abe, Y. Hasegawa, S. Miura, K. Yamasaki, A. Yoshida, K. Yoshiura, H. Masuzaki.

2881W   Heritability of cardiovascular diseases in a preeclampsia family cohort. L. C. V. Thomsen, P. E. Melton, K. Tollaksen, I. Lyslo, P. Solberg, L. T. Roten, A. S. Gundersen, M. L. Odland, K. M. Strand, O. K. Nygĺrd, C. Sun, A.-C. Iversen, R. Austgulen, E. K. Moses, L. Bjřrge.

2882T   Transcriptional profiling analyses of RNA in uncultured amniotic fluid using GeneChip® PrimeView™ Human Gene Expression Array. D. Cha, S. H. Sung, S. R. Sung, M. Chin, J. Park, S. Kang, K. Kang, S. Lyu.

2883W   Recurrent enlarged nuchal translucency: Prenatal presentation of a familial 15q26.2→qter deletion syndrome. R. Reiss, D. Ahern, M. Sandstrom, L. Wilkins-Haug.

2884T   Gene expression differences between preeclamptic and healthy placentas — An RNA sequencing study. T. Kaartokallio, A. Cervera, S. Hautaniemi, J. Kere, H. Laivuori.


Molecular Basis of Mendelian Disorders

 

2885W   Towards a mouse model of thrombocytopenia with absent radius syndrome. V. L. Horner, A. Dodd, A. Long, C. L. Martin, T. Caspary.

2886T   A single mutant HTT allele is sufficient to elicit early alterations to the brain in a knock-in mouse model of Huntington’s disease. M. Kovalenko, A. J. Milnerwood, S. Tappan, J. St.Claire, J. R. Guide, R. C. Switzer III, L. A. Raymond, J.-M. Lee, V. C. Wheeler.

2887F   From chromosomal translocation to functional analysis, identification of ATG4C in cleft palate malformation. L. J. Rochard, T. Hyos, M. Talkowski, J. Gusella, C. Morton, E. C. Liao.

2888W   Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism. K. M. Kettunen, R. Karikoski, R. H. Hämäläinen, T.-T. Toivonen, H. Jalanko, A.-E. Lehesjoki.

2889T   An in vivo mouse model to study the phosphorylation of FMRP. M. Santoro, S. T. Warren.

2890F   A systematic genome-wide knockout generation and analysis of zebrafish protein-coding gene function. C. M. Dooley, E. M. Busch-Nentwich, R. N. W. Kettleborough, C. Scahill, I. Sealy, R. J. White, J. C. Collins, N. Wali, C. Herd, R. Gibbons, S. Carruthers, A. Hall, R. C. Clark, Z. Pusztai, M. Niemi, F. van Eeden, J. C. Barrett, D. L. Stemple.

2891W   Accessing mouse model data for human disease research. J. T. Eppig, S. M. Bello, H. Dene, A. Anagnostospoulos, H. Onda, R. Babiuk, M. N. Knowlton, M. Tomczuk, C. L. Smith.

2892T   Reducing variability in variation data using a common genotype-phenotype model. N. L. Washington, M. Brush, A. Bandrowski, C. Borromeo, K. Eilbeck, J. Espino, J. Grethe, A. Gupta, H. Hochheiser, S. Hoffmann, S. E. Lewis, L. Lui, M. Martone, C. J. Mungall, P. Robinson, D. Smedley, C. Torniai, N. Vasilevsky, M. A. Haendel.

2893F   MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis. D. M. Alvarado, K. Ha, J. G. Buchan, K. McCall, A. Vydyanath, P. K. Luther, M. I. Goldsmith, M. B. Dobbs, C. A. Gurnett.

2894W   Scaling up: Integrating high throughput mouse phenotyping data with additional genomic resources for gene discovery. C. L. Smith, H. Dene, R. Balderelli, S. Gianatto, K. Forthover, J. Kadin, J. Richardson, J. T. Eppig, Mouse Genome Informatics Staff.

2895T   Translational modeling of calpain-5 vitreoretinopathy mechanisms in mice. K. J. Wert, J. M. Skeie, S. H. Tsang, V. B. Mahajan.

2896F   A primary cell culture model to study an inherited macular degeneration, DHDR/ML. R. Fernandez-Godino, D. Garland, E. Pierce.

2897W   Inactivation of the miR-183/96/182 cluster gene results in syndromic retinal degeneration. S. Xu, S. Lumayag, C. E. Haldin, N. J. Corbett, K. J. Wahlin, C. Cowan, S. Turturro, P. E. Larsen, P. D. Witmer, D. Valle, D. J. Zack, D. A. Nicholson.

2898T   The Dhtkd1 Tyr486* knock-in mouse model recapitulates some phenotypes of Charcot-Marie-Tooth disease type 2Q. M. Gu, W. Guo, C. Luan, Z. Yu, Y. Chen, S. Dang, Y. Kuang, Z. Wang.

2899F   Comprehensive characterization of a zebrafish model for pseudoxanthoma elasticum reveals a role for the abcc6 transporter in cardiovascular development. M. J. Hosen, O. Vanakker, A. Willaert, P. Coucke, A. De Paepe.

2900W   Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression. K. Kobayashi, M. Kanagawa, C. C. Yu, C. Ito, S. I. Fukada, T. Chiyo, T. Okada, S. Takeda, T. Toda.

2901T   Mutations in Sonic hedgehog signaling pathway predispose to fatty liver. A. F. Martinez, R. J. Lipinski, M. Guillen-Sacoto, S. K. Hong, J. L. Everson, K. K. Sulik, N. S. Trivedi, A. G. Elkahloun, B. D. Solomon, M. Muenke.

2902F   Imaging disease states using mouse models. S. Rockwood, M. Osborne, M. Lessard, M. Sasner.

2903W   The cDNA expression pattern in the brain of Long-Evans Cinnamon rat, the animal model of Wilson disease. G. Kim, B. Lee, J. Kim, J. Kim, S. Heo, M. Kang, J. Choi, H. Yoo.

2904T   Dube3a expression levels affect axonal propagation and resting potential in fly models of Angelman syndrome and duplication 15q autism. L. Reiter, C. Valdez, R. Scroggs.

2905F   Dysregulation of inflammatory pathways in a familial hemiplegic migraine 1 mouse model after the induction of cortical spreading depression. E. Eising, B. de Vries, R. Shyti, L. S. Vijfhuizen, L. A. M. Broos, N. A. Datson, E. A. Tolner, P. A. C. 't Hoen, M. D. Ferrari, A. M. J. M. van den Maagdenberg.

2906W   Analysis of the role of GAA repeat expansion instability in Friedreich ataxia pathology in a humanized mouse model. J. Sarsero.

2907T   Beta-glucosidase 2 (GBA2), which is mutated in inherited spastic paraplegia and cerebellar ataxia, is sensitive to inhibition by conduritol B epoxide. A. C. van der Spoel, C. M. Ridley, K. E. Thur, N. B. Thillaiappan, A. A. Rahim, S. N. Waddington.

2908F   A biological role for impaired BDNF transcription in familial dysautonomia. M. Nilbratt, G. Lee, E. Morini, S. J. Haggarty, L. Studer, S. A. Slaugenhaupt.

2909W   Species-specific expression of acidic mammalian chitinase in stomach tissues. M. Ohno, Y. Togashi, K. Tsuda, K. Okawa, M. Kamaya, M. Sakaguchi, Y. Sugahara, F. Oyama.

2910T   Quantitative expression analysis of mammalian chitinases in human and mouse tissues. F. Oyama, M. Ohno, Y. Togashi, K. Tsuda, K. Okawa, M. Sakaguchi, Y. Sugahara.

2911F   Molecular basis of a new form of hyperekplexia. J. Capo-chichi, S. Boissel, E. Brustein, F. F. Hamdan, M. Samuels, G. A. Rouleau, P. Drapeau, J. l. Michaud.

2912W   A homozygous missense mutation in HSPA9 causes epiphyseal-vertebral-ear dysplasia. J. Amiel, M. Oufadem, A. Linglart, D. Lehalle, C. Bole, P. Nitschke, A. Munnich, S. Lyonnet, C. Gordon.

2913T   Autosomal recessive congenital ichthyosis and related disorders: Mutation in CERS3, coding for ceramide synthase 3, reveal major puzzle peaces for the understanding of epidermal barrier formation. K. M. Eckl, R. Tidhar, H. Thiele, V. Oji, I. Hausser, S. Brodesser, M. L. Preil, A. Önal-Akan, F. Stock, D. Müller, K. Becker, R. Casper, G. Nürnberg, J. Altmüller, P. Nürnberg, H. Traupe, A. H. Futerman, H. C. Hennies.

2914F   The centriolar satellite protein AZI1 interacts with BBS4 and is involved in ciliary trafficking of the BBSome. X. Chamling, S. Seo, C. C. Searby, G. H. Kim, D. C. Slusarski, V. C. Sheffield.

2915W   NPHP10 (SDCCAG8) interacts with components of the multi-aminoacyl-tRNA synthetase complex. K. Weihbrecht, M. Humbert, V. Sheffield, S. Seo.

2916T   Fragile X mental retardation protein in cell differentiation: The MEG-01 as a new study model. M. Mc Coy, F. Corbin.

2917F   Hypervitaminosis D due to 1,25-(OH)2D-24 hydroxylase (CYP24A1) deficiency causing nephrocalcinosis and nephrolithiasis. G. Nesterova, M. Malicdan, T. Sakaki, M. Collins, D. Adams, C. Boerkoel, W. Gahl.

2918W   ARID1B inhibits WNT signaling through interaction with BRG1 and β-catenin. G. Vasileiou, A. B. Ekici, S. Uebe, J. Behrens, A. Reis, M. V. Hadjihannas.

2919T   Cardiovascular manifestations in a family with GLA nonsense mutation (W162X). E. Severin, C. Dragomir, A. Stan, G. Sarca.

2920F   Unused Program Number

2921W   Analysis of GH-releasing hormone (GHRH), GHRHR, GH1, PROP1, HESX1 and GLI2 reveal the etiology of congenital growth hormone deficiency. I. J. P. Arnhold, M. M. França, M. G. F. Osorio, S. Marui, M. Y. Nishi, L. R. Carvalho, A. P. Otto, F. A. Correa, E. F. Costalonga, A. A. L. Jorge, B. B. Mendonca.

2922T   Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. T. Wieland, F. Beuschlein, S. Boulkroun, A. Osswald, H. N. Nielsen, U. D. Lichtenauer, D. Penton, V. R. Schack, L. Amar, E. Fischer, A. Walther, P. Tauber, T. Schwarzmayr, S. Diener, E. Graf, B. Allolio, B. Samson-Couterie, A. Benecke, M. Quinkler, F. Fallo, P.-F. Plouin, F. Mantero, T. Meitinger, P. Mulatero, X. Jeunemaitre, R. Warth, B. Vilsen, M.-C. Zennaro, T. M. Strom, M. Reincke.

2923F   A novel homozygous mutation IVS6+5G>T of CYP11B1 gene of patient with Vietnamese congenital adrenal hyperplasia. M. T. P. Nguyen, T. H. Nguyen, N. D. Ngo, C. D. Dung, V. H. Nong, T. L. Nguyen, H. H. Nguyen.

2924W   Alterations in the PAX8 promoter region cause thyroid dysgenesis. P. Hermanns, M. Morlot, M. Donaldson, J. Jones, P. Pohlenz.

2925T   Shortening the diagnostic odyssey of patients with very early onset inflammatory bowel disease. S. Drury, J. Kammermeier, L. Jenkins, M. Elawad, K. Gilmour, N. Lench, N. Shah.

2926F   Patient derived somatic and induced pluripotent stem cells as a model for functional assessment of mutations identified by exome sequencing in congenital diarrheal disorders. M. Yourshaw, A. Vega-Crespo, R. Solorzano-Vargas, J. Wang, S. Stanford, C. Sosa, S. Nelson, J. Byrne, M. Martín.

2927W   Exome sequencing of a familial trio with a suspected autosomal dominant idiopathic immune deficient syndrome identifies novel candidate mutations in the complement system and two other genes. R. Golhar, J. Liang, D. Li, C. Kao, Y. Guo, W. Chen, L. Tian, F. Wang, J. Synder, N. Abdel-Magid, L. Vazquez, B. Keating, J. Zhang, H. Hakonarson.

2928T   SNPs associated with cerebrovascular accident in a Brazilian cohort of sickle cell anemia patients. P. R. S. Cruz, G. Ananina, F. Menaa, M. A. C. Bezerra, A. S. Araujo, G. P. Gil, W. M. Avelar, F. Cendes, F. F. Costa, M. B. Melo.

2929F   Clinical, immunological, and molecular characterization of JAK3 deficiency causing severe combined immunodeficiency disease in Saudi Arabia. A. Hawwari, H. Al-Shammari, S. Al-Hisi, O. Alsmadi, H. Al-Dhekri, A. Al-Ghonaium, S. Al-Muhsen, B. Al-Saud, R. Arnaout, H. Al-Mousa.

2930W   Likely pathogenic hypomorphic mutation in the perforin 1 gene causing adult-onset familial hemophagocytic lymphohistiocytosis. L. Massingham, J. Walsh, N. Shur, C. Benson, P. Rintels, N. Berliner, D. Treaba, J. Li, C. Phornphutkul.

2931T   Ancestry and genetic admixture among sickle cell disease patients in North America. Z. Wang, L. Diaw, M. Barr, M. Quinn, D. Diggs, A. Oguhebe, D. Darbari, A. Hutchinson, C. Hoppe, J. G. Taylor.

2932F   Erythropoiesis failure and ribosomal dysfunction in zebrafish model of Diamond-Blackfan anemia. N. Kenmochi, T. Uechi, Y. Nakajima, G. Yadav, T. Sawada, M. Ikeda.

2933W   A family based exome sequence analysis identifies a rare AID deficiency causing mutation enriched in Finland. L. Trotta, H. Almusa, M. Lepisto, P. Ellonen, S. Hannula, A. Palotie, K. Porkka, M. Seppanen, J. Saarela.

2934T   Exome sequencing identifies NFKB2 mutations as a cause of autosomal dominant early-onset common variable immunodeficiency. K. Chen, E. Coonrod, A. Kumanovics, Z. Franks, J. Durtschi, R. Margraf, W. Wu, N. Augustine, P. Ridge, H. Hill, L. Jorde, A. Weyrich, G. Zimmerman, J. Bohnsack, K. Voelkerding.

2935F   Lobar holoprosencephaly associated with additional clinical anomalies in two daughters of a consanguineous couple: Comparison of SNP-array analysis results as an attempt to search for a potential causative candidate gene. P. M. Kroisel, B. Plecko, M. Brunner-Krainz, M. R. Speicher, C. Windpassinger.

2936W   Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T. S. Majid, R. Abuthuraya, K. Ramzan, S. Hagos, H. Al-Dossari, R. Al-Omar, H. Murad, A. Chedrawi, Z. Al-Hassnan, S. Bohlega.

2937T   A mutation in the SCN10A voltage-gated sodium channel genes causes a novel autosomal recessive progressive neuromuscular disease and epilepsy-related syndrome. M. Kambouris, T. Ben-Omran, Y. Al-Sarraj, Y. Bejaoui, M. Almuriekhi, H. Boulos, H. El-Shanti.

2938F   Duplication of EYA1 causes branchiootic syndrome in a Brazilian family. R. Mingroni-Netto, V. G. L. Dantas, E. L. Freitas, A. M. S. M. Moraes, M. C. C. Braga, S. B. Ramos, C. Rosenberg, V. A. Della-Rosa.

2939W   DNA copy-number variations in prune belly syndrome. S. Harrison, L. Baker.

2940T   A mutation at the H2B histone family, member W H2BFWT gene causes a novel X-linked mental retardation with abnormal head shape syndrome. V. Chini, R. Ali, N. Khattab, T. Bin Omran, Y. Al-Sarraj, M. Kambouris, H. El-Shanti.

2941F   The solute carrier SLC26A9 accounts for variability in biomarkers of cystic fibrosis-related prenatal exocrine pancreatic damage. M. R. Miller, D. Soave, W. Li, T. Chiang, J. Gong, H. Levy, L. Sun, J. M. Rommens, F. Accurso, P. Durie, M. K. Sontag, L. J. Strug.

2942W   Unused Program Number

2943T   ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. L. Fares Taie, N. Chassaing, S. Gerber, G. Clayton-Smith, S. Hanein, E. Silva, M. Serey, V. Serre, X. Gerard, C. Baumann, G. Plessis, B. Demeer, L. Bretillon, C. Bole, P. Nitschke, A. Munnich, S. Lyonnet, P. Calvas, J. Kaplan, N. Ragge, J. M. Rozet.

2944F   Identification of a novel locus for a recessive congenital myopathy by linkage analysis in an Israeli Bedouin family. E. Muhammad, O. Reish, Y. Ohno, T. Scheetz, A. DeLuca, C. Searby, M. Regev, L. Benyamini, Y. Fellig, A. Kihara, V. C. Sheffield, R. Parvari.

2945W   Identification of a new locus on chromosome 1 for autosomal dominant retinitis pigmentosa. K. K. Selmer, R. Riise, M. D. Vigeland, K. Brandal, D. E. Undlien.

2946T   Molecular basis of previously uncharacterized mental retardation syndrome. E. Kaasinen, E. Rahikkala, S. Miettinen, K. Palin, L. Pajunen, L. A. Aaltonen.

2947F   Novel frameshift mutation of the ADAR1 gene in a Chinese family with dyschromatosis symmetrica hereditaria. W. Cao, J. Zhang, X. Chen, Z. Zhang, H. Wang, L. Guo, Y. Liu, X. Zhao, Q. Xing, M. Shao.

2948W   Association of genetic marker rs7576183 located downstream of the human Activinβ-B gene with non-syndromic hypodontia. L. A. Morford, P. E. DiFranco, A. N. Vu, K. C. Kirk, G. Falcăo-Alencar, M. S. Gilbey, X. Ding, D. W. Fardo, J. K. Hartsfield, Jr.

2949T   New candidate genes in holoprosencephaly: Results from homozygosity mapping in six inbred families. S. Odent, M. de Tayrac, M. Babron, C. Dubourg, C. Mouden, R. Bouvet, S. Gazal, M. Sahbatou, L. Ratié, V. Dupé, J. Mosser, V. David.

2950F   A frameshift mutation of TBC1D7, a subunit of the TSC1-TSC2 complex upstream of mTORC1, causes a new distinct clinical phenotype with intellectual disabilities. L. Micale, A. Abdullah Alfaiz, B. Mandriani, C. Fusco, B. Augello, M. T. Pellico, J. Chrast, L. Zelante, A. Reymond, G. Merla.

2951W   Exome sequencing identifies novel genes for autosomal recessive heterotaxy-spectrum disorders. A. E. Cast, M. Tariq, F. Rahim, M. Jelani, S. M. Ware.

2952T   Age-dependent germline mosaicism of the most common Noonan syndrome mutation shows the signature of germline selection. P. Calabrese, S. Yoon, S. Choi, J. Eboreime, B. Gelb, N. Arnheim.

2953F   Clinical spectrum of the families with multiple synostosis syndromes with novel NOG mutations. J. Kim, B. Lee, G. Kim, J. Lee, S. Choi, J. Lee, H. Yoo.

2954W   ZFPM2 mutations in sporadic and familial congenital diaphragmatic hernia patients. M. Longoni, M. K. Russell, F. A. High, K. Lage, J. Wells, C. J. Bult, K. G. Ackerman, C. Lee, B. R. Pober, P. K. Donahoe.

2955T   Whole exome sequencing links with cerebro-facio-thoracic syndrome. Y. Bayram, E. Karaca, D. Pehlivan, C. R. Beck, C. Gonzaga-Jauregui, T. Gambin, S. N. Jhangiani, H. Aydin, W. Wiszniewski, A. H. Cebi, M. M. Atik, D. Muzny, R. A. Gibbs, J. R. Lupski.

2956F   Stormorken syndrome: Mutation in STIM1 as a cause or a remarkable coincidence? G. Morin, G. Jedraszak, A. Rabbind singh, B. Roméo, E. Bourges-Petit, H. Sevestre, D. Brémond-Gignac, H. Ouadid-Ahidouch, M. Mathieu, J. Rochette.

2957W   SOX10 in the development of the olfactory ensheathing cells. V. Pingault, W. Watanabe, S. Marcos, V. Baral, A. Chaoui, M. Goossens, J. P. Hardelin, C. Dodé, N. Bondurand.

2958T   FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. C. Vilain, I. Migeotte, N. Lambert, C. Perazzolo, D. de Silva, B. Dimitrov, C. Heinrichs, S. Janssens, B. Kerr, G. Mortier, G. Van Vliet, P. Lepage, G. Casimir, M. Abramowicz, N. Simonis, G. Smits.

2959F   Exome sequencing in Mendelian cleft lip and palate families: Results of an international orofacial clefting consortium. T. Roscioli, M. Buckley, C. Carels, T. Cox, E. Haan, D. Hanna, A. V. Hing, K. Khandelwal, E. Kirk, A. Lidral, J. Murray, D. A. Nickerson, F. Reinier, J. Smith, E. Thompson, H. van Bokhoven, H. Zhou.

2960W   Identification of a novel mutation Arg118Gly in the TWIST1 gene causing Saethre-Chotzen syndrome. M. L. M. Castro, C. H. P. Grangeiro, N. R. Quaresemin, C. M. Leprevost, J. A. Josahkian, L. A. F. Laureano, W. A. R. Baratella, J. Huber, E. S. Ramos, W. A. Silva, Jr., L. Martelli, G. A. Molfetta.

2961T   Splice site mutation leads to ataxia and retardation in a consanguineous family . R. M. Burns, W. Peng, J. Xu, J. Z. Li, M. Burmeister.

2962F   A novel gene for spinocerebellar ataxia linked to chromosome 6 and involved in fatty acid metabolism. E. Di Gregorio, B. Borroni, E. Giorgio, D. Lacerenza, C. Mancini, A. Calcia, I. Mura, D. Coviello, N. Mitro, M. Gaussen, N. lo Buono, A. Funaro, G. Vaula, I. Lagroua, L. Orsi, A. Durr, C. Costanzi, A. Padovani, A. Brice, L. Boccone, E. Hoxha, F. Tempia, D. Caruso, G. Stevanin, A. Brusco.

2963W   Targeted exome sequencing with copy number variant detection reveals HSD17B4-deficiency in a male with cerebellar ataxia and azoospermia. D. S. Lieber, S. G. Hershman, N. G. Slate, S. E. Calvo, K. B. Sims, J. D. Schmahmann, V. K. Mootha.

2964T   Mutations of COQ2 in familial and sporadic multiple system atrophy. J. Mitsui, T. Matsukawa, H. Ishiura, Y. Fukuda, Y. Ichikawa, H. Date, B. Ahsan, Y. Nakahara, Y. Momose, Y. Takahashi, J. Goto, Y. Yamamoto, K. Shirahige, H. Takahashi, O. Onodera, M. Nishizawa, T. Kondo, S. Murayama, A. Dürr, A. Brice, A. Filla, T. Klockgether, U. Wüllner, G. Nicholson, S. Gilman, S. Tsuji, JAMSAC, JGSCAD, JPDSGC, JaCALS, and NAMSA-SG.

2965F   Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridisation. A. Pyle, H. Griffin, J. Duff, S. Zwolinski, T. Smertenko, P. Yu-Wai-Man, M. Santibanez-Koref, R. Horvath, P. F. Chinnery.

2966W   Autosomal-recessive spastic ataxias: Systematic whole exome sequencing of a large cohort reveals novel phenotypes and gene candidates. R. Schüle, M. Gonzalez, J. Reichbauer, A. Caballero Oteyza, S. Wiethoff, M. Dobler, U. Gaiser, T. Rattay, K. Karle, L. Schols, S. Zuchner, M. Synofzik.

2967T   A dominantly inherited syndrome of adult-onset tremor, ataxia, parkinsonism, seizures and sensory neuropathy associated with c.970-1 G→A PolG2 splice site mutation. L. Van Maldergem, R. W. Taylor, R. Van Coster, G. Stevanin, A. Rolfs, M. Humble, E. Blakely, L. He, J. Piard, B. Depaepe, P. Hella, F. G. Debray, J.-J. Martin, J. Bergmans, P. Laloux, A. Durr, S. Forlani, W. C. Copeland, E. Mormont.

2968F   Successful collaborative data mining for novel neuromuscular genes in Genomes Management Application (GEM.app). S. Zuchner, F. Speziani, A. Abrams, A. Strickland, A. P. Rebelo, R. Ulloa, R. Acosta, M. Gonzalez.

2969W   Comprehensive genetic analysis of an Usher I patient cohort. K. M. Bujakowska, M. Consugar, E. Place, M. F. Farkas, D. Taub, J. White, D. Navarro-Gomez, A. Langsdorf, M. Sousa, C. Weigel DiFranco, S. Harper, X. Gai, E. L. Berson, E. A. Pierce.

2970T   SPG11 and SPG15 are the most frequent genotypes causing spastic paraplegia with thin corpus callosum, white matter changes and mental retardation in Italian patients. C. Gellera, V. Pensato, B. Castellotti, E. Sarto, D. DiBella, L. Nanetti, D. Pareyson, E. Salsano, M. Eoli, C. Ciano, C. Mariotti, F. Taroni.

2971F   5q15 Deletions: Clinical and molecular characterization of a new syndrome. E. Pallesi-Pocachard, J. Andrieux, A.-M. Bisgaard Pedersen, R. Steensbjerre Mřller, E. Buhler, A. Carabalona, P. H. Kaad, E. Parrini, D. Héron, B. Keren, B. Benyahia, N. Sobreira, V. Malan, L. Manouvrier-Hanu, T. Wang, R. Guerrini, A. Represa, M. Kirchhoff, M. Holder-Espinasse, C. Cardoso.

2972W   Evolution of magnetic resonance imaging findings in a girl with megalencephalic leukoencephalopathy with subcortical cysts. D. L. Renaud, N. Manolakos, G. M. Hobson.

2973T   De novo mutations in the autophagy gene encoding WDR45 (WIPI4) cause static encephalopathy of childhood with neurodegeneration in adulthood. H. Saitsu, T. Nishimura, K. Muramatsu, H. Kodera, S. Kumada, K. Sugai, E. Kasai-Yoshida, N. Sawaura, H. Nishida, A. Hoshino, F. Ryujin, S. Yoshioka, Y. Kondo, Y. Tsurusaki, M. Nakashima, N. Miyake, H. Arakawa, M. Kato, N. Mizushima, N. Matsumoto.

2974F   Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia, SPG26. G. Stevanin, A. Boukhris, R. Schule, C. M. Lourenço, J. L. Loureiro, M. A. Gonzalez, P. Charles, I. Rekik, J. Gauthier, R. F. Acosta-Lebrigio, F. Speziani, A. Ferbert, A. Caballero-Oteyza, A. Dionne-Laporte, A. Noreau, M. Gaussen, P. Coutinho, P. Dion, F. Mochel, J. Pouget, C. Mhiri, L. Schols, F. Darios, G. A. Rouleau, W. Marques, Jr., A. Durr, S. Zuchner, A. Brice.

2975W   Neurofilament light gene mutation causes hereditary motor and sensory neuropathy with pyramidal signs. H. Takashima, A. Hashiguchi, M. Nomura, H. Arata, A. Yoshimura, Y. Higuchi, Y. Sakiyama, T. Nakamura, Y. Okamoto, E. Matsuura.

2976T   KIF5A gene mutations in patients with spastic paraplegia. F. Taroni, S. Caldarazzo, E. Sarto, S. Baratta, K. Savio, G. Galassi, A. Ariatti, G. Lauria, L. Nanetti, E. Salsano, D. Pareyson, C. Mariotti, D. Di Bella.

2977F   A locus for autosomal recessive congenital mirror movement disorder maps to 22q13.1. J. B. Vincent, M. A. Rafiq, P. John, I. A. Balouch.

2978W   The whole genome sequence of a Jack Russell terrier with progressive spinocerebellar ataxia and myokymia contains a homozygous disease-associated KCNJ10 missense mutation. D. Gilliam, J. R. Coates, G. S. Johnson, L. Hansen, T. Mhlanga-Mutangadura, J. F. Taylor, G. C. Johnson, R. D. Schnabel, D. P. O'Brien.

2979T   The Alu-rich architecture of SPAST predisposes to diverse and functionally distinct CNV alleles. P. M. Boone, I. M. Campbell, B. C. Baggett, J. C. Scull, C. J. Shaw, M. A. Withers, P. Moretti, W. E. Goodwin, J. K. Fink, A. Ordóńez-Ugalde, B. Quintáns, M.-J. Sobrido, S. Stemmler, J. R. Lupski.

2980F   Tank-binding kinase 1 (TBK1), autophagy, and glaucoma. J. H. Fingert, K. Anfinson, F. Solivan-Timpe, B. R. Roos, A. Khanna, A. L. Robin, R. F. Mullins, B. A. Tucker.

2981W   Lamin B1 over-expression is associated with nuclear defects and alterations in nuclear structure. H. Rolyan, K. Dahl, N. Dahl, A. Melberg, C. F. M. de Souza, F. P. Vairo, A. Brusco, Q. S. Padiath.

2982T   Mechanisms underlying non-recurrent microdeletions causing neurofibromatosis type-1. J. Vogt, K. Bengesser, K. Claes, K. Wimmer, L. Messiaen, V.-F. Mautner, R. van Minkelen, E. Legius, H. Brems, T. Rosenbaum, M. Upadhyaya, D. N. Cooper, H. Kehrer-Sawatzki.

2983F   West syndrome caused by homozygous mutation in an evolutionary conserved mitochondrial elongation factor. A. A. Alfaiz, N. Boutry-Kryza, D. Ville, N. Guex, J. Bellescize, C. Rivier, A. Labalme, V. Portes, P. Edery, M. Till, I. Xenarios, J. Herrmann, D. Sanlaville, G. Lesca, A. Reymond.

2984W   Gene discovery and high-throughput resequencing of candidate genes in epileptic encephalopathy. H. Mefford, E. Sherr, I. Scheffer, A. Poduri, D. Dlugos, Epi4K Investigators.

2985T   Mutations of TBC1D24 can cause nonsyndromic deafness DFNB86 or unrelated epilepsy disorders. A. U. Rehman, K. Lee, R. J. Morell, T. Ito, M. C. Drummond, S. Riazuddin, R. L. P. Santos-Cortez, S. N. Khan, A. J. Griffith, S. Riazuddin, S. M. Leal, T. B. Friedman.

2986F   Hippocampal defects in the FMR1 knockout mouse. F. Kooy, I. Heulens, V. Sabanov, T. Ahmed, A. Popp, R. Willemsen, R. D'Hooge, D. Baltschun, L. Rooms.

2987W   Analysis of genomic DNA sequence based on new molecular diagnostic strategies for neurofibromatosis type I. S. Choi, J. Kim, J. Lee, J. Lee, G. Kim, B. Lee, H. Yoo.

2988T   Comprehensive mutation analysis for hereditary sensory and autonomic neuropathy using a next-generation sequencing system. J. Yuan, E. Matsuura, Y. Higuchi, A. Hashiguchi, T. Nakamura, S. Nozuma, Y. Sakiyama, A. Yoshimura, H. Takashima.

2989F   Whole exome sequencing identifies rare variants in Turkish patients with brain malformation. E. Karaca, D. Pehlivan, C. Gonzaga-Jauregui, T. Gambin, W. Wiszniewski, A. H. Cebi, M. M. Aatik, V. Gelowani, M. Withers, D. Muzny, S. N. Jhangiani, R. A. Gibbs, J. R. Lupski.

2990W   Investigating the genetic basis of amyotrophic lateral sclerosis using next-gen techniques. J. A. Fifita, K. L. Williams, G. A. Nicholson, I. P. Blair.

2991T   Molecular genetics of primary microcephaly in Indian population: Mutations in WDR62, ASPM and STIL genes. A. Kumar, V. Bhat, G. Mohan, S. C. Girimaji.

2992F   Genetic background of inner ear malformation. R. Birkenhager, E. Prera, S. Arndt, W. Maier, R. Laszig, A. Aschendorff.

2993W   Using whole exome sequencing to diagnose primary microcephaly caused by mutations in ASPM and WDR62. A. H. Cebi, D. Pehlivan, E. Karaca, M. M. Atik, T. Tos, W. Wiszniewski, Y. Bayram, D. Muzny, R. A. Gibbs, J. R. Lupski.

2994T   ZBTB20-dependent transcription regulation imbalance in autism and intellectual disability. R. Koul, L. Dukes-Rimsky, Y. Luo, K. A. Jones, E. Lemyre, S. M. Sowell, D. P. Srivastava, S. Ladd, B. R. DuPont, C. M. Wilson, C. Skinner, F. Gurrieri, R. E. Stevenson, E. Boyd, J. L. Michaud, L. Wang, P. Penzes, A. K. Srivastava.

2995F   Rare deletion of the DMD brain-specific promoter results in ASD without muscle findings. H. Mason-Suares, F. Probst, M. Hedge, B. Coffee.

2996W   Mitochondrial DNA deletions heteroplasmy analysis using the next-generation sequencing. Y. Okamoto, J. Yuan, A. Yoshimura, S. Nozuma, Y. Higuchi, Y. Sakiyama, A. Hashiguchi, I. Higuchi, H. Takashima.

2997T   Severe congenital RYR1 associated myopathy: AR and AD RYR1 mutations that expand the genetic, clinical and pathologic spectrum. L. Medne, D. X. Bharucha-Goebel, M. Santi, K. Zukosky, J. Dastgir, T. Winder, P. B. Shieh, G. Tennekoon, R. S. Finkel, J. J. Dowling, N. Monnier, C. G. Bönnemann.

2998F   Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7. Y. Qu, J. Du, E. Li, J. Bai, Y. Jin, H. Wang, F. Song.

2999W   Exome sequencing identifies PINCH2 mutations associated with early-onset autosomal recessive LGMD with severe cardiomyopathy and triangular tongue. J. Warman Chardon, A. Smith, J. Woulfe, K. Rakhra, C. Dennie, J. Schwartzentruber, C. Beaulieu, FORGE Canada Consortium, J. Majewski, D. E. Bulman, K. M. Boycott, D. Dyment.

3000T   C19ORF12 mutations in neurodegeneration with brain iron accumulation. G. Annesi, P. Tarantino, M. Gagliardi, G. Lesca, E. Broussolle, A. Gambardella, A. Quattrone.

3001F   Hypoxanthine guanine phosphoribosyltransferase deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. Y. Yamada, N. Nomura, A. Yamano, K. Yamada, R. Kimura, D. Fukushi, H. Hasegawa, M. Nakamura, K. Ichida, N. Wakamatsu.

3002W   PLEKHG5 deficiency leads to an intermediate form of autosomal recessive Charcot-Marie-Tooth disease. H. Azzedine, P. Zavadakova, V. Planté-Bordeneuve, M. Vaz Pato, N. Pinto, L. Bartesaghi, J. Zenker, O. Poirot, N. Bernard-Marissal, E. Arnaud, R. Cartoni, A. Title, G. Venturini, J. J. Médard, E. Makowski, L. Schöls, K. G. Claeys, C. Stendel, A. Roos, J. Weis, O. Dubourg, J. L. Loureiro, G. Stevanin, G. Said, A. Amato, J. Baraban, E. LeGuern, J. Senderek, C. Rivolta, R. Chrast.

3003T   Characterization of a homologue of the Batten disease protein CLN3 in the model eukaryote Dictyostelium. R. J. Huber, S. L. Cotman, M. A. Myre.

3004F   Whole exome sequencing identifies a new gene for Charcot-Marie-Tooth type 2 in a Polish family. M. L. Kennerson, G. Pérez-Siles, A. Kochański, A. Kidambi, A. P. Drew, J. Kosińska, M. Gonzalez, D. Kabzińska, R. Ploski, M. Menezes, I. Hausmanowa-Petrusewicz, S. Zuchner, G. A. Nicholson.

3005W   Distributions of degenerative myelopathy associated SOD1 alleles among privately owned dogs. A. Kolicheski, R. Zeng, G. S. Johnson, M. L. Katz, T. Mhlanga-Mutangadura, L. Hansen, E. Ivansson, K. Lindblad-Toh, J. Guo, D. P. O'Brien, G. C. Johnson, J. R. Coates.

3006T   Homozygous null mutations of FIG4 in Yunis-Varón syndrome. G. M. Lenk, P. M. Campeau, J. T. Lu, Y. Bae, L. Burrage, P. Turnpenny, J. R. Corona-Rivera, L. Morandi, M. Mora, H. Reutter, A. T. Vulto-van Silfhout, L. Olivier-Faivre, E. Haan, R. A. Gibbs, M. H. Meisler, B. H. Lee.

3007F   SLC25A12 homozygous missense mutation reduces neuronal AGC1 activity to cause global developmental delay, intractable epilepsy, and reduced N-acetylaspartate in consanguineous. D. Li, M. J. Falk, X. Gai, E. McCormick, E. Place, F. M. Lasorsa, F. G. Otieno, C. Hou, C. E. Kim, N. Abdel-Magid, L. Vazquez, F. D. Mentch, R. Chiavacci, G. Giannuzzi, E. D. Marsh, Y. Guo, L. Tian, F. Palmieri, H. Hakonarson.

3008W   Defect of TARG1/C6orf130 gene causing an autosomal form of familial neurodegeneration with seizure. E. Ozkan, B. Chioza, M. Patton, A. G. Ladurner, G. Timinszky, I. Ahel, R. Sharifi.

3009T   Application of high-throughput sequencing to pediatric patients with unresolved diagnoses. R. J. Taft, C. Simons, A. Vanderver, R. J. Leventer, M. S. van der Knaap, N. I. Wolf, R. Schiffmann, S. Damiani, P. Pearl, M. Bloom, S. M. Grimmond, D. Miller, D. R. Thorburn, J. Christodoulou, M. Gabbet, J. McGaughran.

3010F   Rai1 dosage in early development is essential to PTLS-like phenotype development in Dt-Rai1 animals. L. Cao, C. Abad, J. Molina, J. I. Young, K. Walz.

3011W   Role of REEP1 (SPG31) in mitochondrial structure and energetic function. C. Goizet, J. Lavie, N. Bellance, S. Melser, G. Solé, D. Hannequin, S. Lyonnet, S. Forlani, A. Brice, G. Stevanin, A. Durr, R. Rossignol, D. Lacombe, G. Bénard.

3012T   Comprehensive genetic analysis of autosomal dominant spinocerebellar ataxia using a next-generation sequencing system. Y. Higuchi, A. Yoshimura, J. Yuan, Y. Sakiyama, R. Saigo, R. Hirano, A. Hashiguchi, Y. Okamoto, R. Okubo, H. Takashima.

3013F   The phenotype associated with ASPM mutation expands to severe Seckel syndrome. D. J. Morris-Rosendahl, G. Yigit, G. Carpenter, R. Colnaghi, K. Mueller, G. Borck, M. Trimborn, F. Beleggia, M. Leipoldt, G. Nuernberg, K. Seufert, B. Wollnik, M. O'Driscoll.

3014W   Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset parkinsonism. S. Olgiati, M. Fang, M. Picillo, M. Quadri, G. J. Breedveld, J. Graafland, B. Wu, F. Xu, R. Erro, M. Amboni, S. Pappata, M. Quarantelli, H. F. Chien, E. R. Barbosa, B. A. Oostra, P. Barone, J. Wang, V. Bonifati.

3015T   Copy number variants and deletion classes as modifier elements of phenotype in Angelman deleted patients. S. Russo, V. Giorgini, E. Mainini, G. Randazzo, P. Bonanni, M. Viri, A. Vignoli, M. Elia, M. T. Bonati, L. Larizza.

3016F   A Charcot-Marie-Tooth type 2 family with two neuropathy gene variants identified through next-generation sequencing using a targeted panel. F. H. Sansbury, T. Antoniadi, C. Buxton, R. Whittington, N. J. Gutowski, P. D. Turnpenny.

3017W   A Japanese girl with severe form of vanishing white matter disease resembling Cree leukoencephalopathy. K. Takano, T. Wada, H. Osaka, Y. Tsurusaki, H. Saitsu, N. Matsumoto.

3018T   Proteolipid protein 1 and gap junction α12 gene mutations in 72 Chinese patients with Pelizaeus-Merzbacher disease/ Pelizaeus-Merzbacher-like disease and prenatal diagnosis of 15 fetuses in twelve Chinese families with PMD probands. J. Wang, D. Li, Y. Wu, J. Xiao, Q. Gu, H. Zhao, J. Shang, Y. Yang, X. Bao, H. Xiong, Y. Zhang, T. Ji, M. Li, Y. Meng, F. Fang, Z. Niu, J. Qin, H. Shi, F. Zhang, X. Wu, Y. Jiang.

3019F   Comprehensive mutation analysis of 421 cases with Charcot-Marie-Tooth disease using microarray and exome sequencing. A. Yoshimura, A. Hashiguchi, Y. Higuchi, J. Yuan, Y. Okamoto, T. Nakamura, J. Mitsui, H. Ishiura, Y. Takahashi, J. Yoshimura, K. Doi, S. Morishita, S. Tsuji, H. Takashima.

3020W   Abnormal copy number variants are frequent in patients with malformations of cortical development associated with epilepsy. F. R. Torres, D. A. Souza, M. M. Guerreiro, M. A. Montenegro, A. C. dos Santos, V. C. Terra, A. C. Sakamoto, F. Cendes, I. Lopes-Cendes.

3021T   Sensorineural hearing loss in OPA1-linked disorders. D. Bonneau, S. Leruez, E. Colin, D. Milea, S. Defoort-Dhellemmes, M. Crochet, C. Verny, M. Ferré, J. Lamblin, V. Drouin, C. Vincent-Delorme, G. Lenaers, C. Blanchet, G. Juul, M. Larsen, V. Procaccio, P. Reynier, P. Amati-Bonneau.

3022F   Targeted re-sequencing of the human X chromosome exome expands the phenotypic spectrum of ATP7A mutations. S. Moutton, A. Delahodde, M. Langouet, C. Bole-Feysot, K. Siquier-Pernet, P. Nitschke, C. Vasnier, S. Hadj-Rabia, L. Yi, A. Drecourt, K. Patel, N. Boddaert, A. Munnich, J. P. Bonnefont, S. G. Kaler, J. Amiel, L. Colleaux.

3023W   Phenotypic and transcriptomic characterization of the RPE affected by mutations that cause RNA splicing factor retinitis pigmentosa. M. H. Farkas, E. F. Nandrot, E. D. Au, D. Lew, K. Bujakowska, M. E. Sousa, D. G. Taub, S. S. Bhattacharya, E. A. Pierce.

3024T   The recruitment of RNA polymerase II is impaired in Cornelia de Lange syndrome. A. Musio, S. Bilodeau, C. Amato, V. Quarantotti, F. Cucco, I. Krantz, L. Mannini.

3025F   Characterization of novel mutations found in classical and infertile CF males of Indian population: A molecular approach to establish genotype and phenotype correlation. R. Prasad, H. Sharma, F. Becq.

3026W   Distinct prevalence of homozygous p.V37I variant of GJB2 in Chinese Hans with severe-to-profound, mild-to-moderate or normal hearing phenotype. Y. Chai, Y. Tao, H. Wu.

3027T   Mosaic missense mutations in the RNase IIIb domain of DICER1 cause JANUS, a novel overgrowth syndrome. S. Klein, H. Lee, S. Ghahremani, P. Kempert, M. Ischander, M. A. Teitell, S. F. Nelson, J. A. Martinez-Agosto.

3028F   Gain and loss of function mutations in PDE4D result in two different developmental disorders with mirrored phenotypes. A. Lindstrand, G. Grigelioniene, D. Nilsson, M. Pettersson, B. M. Anderlid, P. Gustavsson, H. Valta, S. Geiberger, K. Lagerstedt, F. Taylan, J. Wincent, T. Laurell, M. Pekkinen, M. Nordenskjöld, O. Mäkitie, A. Nordgren.

3029W   Loss of function mutations in carbonic anhydrase XII result in hyponatremic dehydration and elevated sweat chloride concentration. B. Vecchio-Pagán, M. Lee, N. Sharma, A. Waheed, D. Belchis, J. Hertecant, W. Sly, G. R. Cutting.

3030T   A novel splicing silencer generated by dystrophin exon 45 deletion could explain exon 44 skipping that modifies dystrophinopathy. M. Matsuo, E. M. Dwianingsih, R. G. Maliueka, A. Nishida, T. Lee, M. Yagi, K. Iijima, Y. Takeshima.

3031F   Skin-specific kallikrein-5 transgenic mice recapitulate the main features of Netherton syndrome and provide a viable model for therapeutic approaches. L. Furio, S. de Veer, C. Deraison, A. Briot, C. Bonnart, A. Robin, A. Hovnanian.

3032W   Unravelling the molecular mechanisms of pathogenesis of incontinentia pigmenti Mendelian disorder. F. Fusco, M. I. Conte, A. Pescatore, E. Esposito, M. Paciolla, M. G. Miano, M. B. Lioi, J. P. Bonnefont, S. Hadj-Rabia, C. Bodemer, G. Royer, A. Smahi, J. Steffann, M. V. Ursini.

3033T   Clinical whole exome sequencing identifies mutations in UPK3A in individuals with renal adysplasia. M. R. Bekheirnia, Z. Niu, D. A. Scott, L. Potocki, P. Lurix, J. W. Belmont, D. J. Lamb, Y. Yang, C. M. Eng.

3034F   Molecular etiology of the Mayer-Rokitansky-Küster-Hauser syndrome. A. Ekici, C. Büttner, P. Strissel, P. Oppelt, S. Renner, M. Beckmann, R. Strick.

3035W   Variable phenotype in individuals with a MUC1 mutation causing medullary cystic kidney disease type1. S. Kmoch, A. J. Bleyer, K. Kidd, K. Hodanova, M. Zivna, P. Vyletal, H. Hartmannova, V. Stranecky.

3036T   Unbiased next -generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome. C. Fallerini, L. Dosa, D. Giachino, R. Tita, M. Baldassarri, D. Del Prete, S. Feriozzi, G. Gai, M. Clementi, A. La Manna, N. Miglietti, R. Mancini, G. Mandrile, R. Artuso, G. M. Ghiggeri, G. Piaggio, F. Brancati, L. Diano, E. Frate, A. R. Pinciaroli, M. Giani, P. Castorina, E. Bresin, F. Mari, M. Bruttini, M. De Marchi, F. Ariani, A. Renieri.

3037F   A novel truncating mutation in SOX18 dramatically impairs renal function in the hypotrichosis-lymphedema-telangiectasia syndrome. S. Moalem, P. Brouillard, D. Kuypers, E. Legius, E. Harvey, M. Francois, M. Vikkula, C. Chitayat.

3038W   Exome sequencing for diagnosis of disorders of sex development. E. Vilain, V. A. Arboleda, H. Lee, A. Eskin, S. F. Nelson, R. M. Baxter.

3039T   RNA-seq gene expression profiling identifies MEK1/2 and SHP2 as positive regulators of chondrocyte terminal differentiation. M. E. Bowen, U. M. Ayturk, W. Yang, M. L. Warman.

3040F   Absence of CyPB directly affects collagen folding and glycosylation, and indirectly affects helical hydroxylation by LH1, altering bone crosslink patterns. W. A. Cabral, I. Perdivara, M. A. Weis, M. Terajima, A. R. Blissett, W. Chang, E. N. Makareeva, E. L. Mertz, S. Leikin, K. B. Tomer, D. R. Eyre, M. Yamauchi, J. C. Marini.

3041W   Use of whole exome sequence analysis to identify TLE4 as a causal variant in a family with congenital kyphoscoliosis and prolonged patency of the anterior fontanelle. P. Giampietro, A. Stoddard, D. Sweetser, C. Raggio, R. Blank, M. Stephan, K. Rasmussen, K. Gill, S. Sund, R. Lorier, A. Turner, U. Broeckel.

3042T   Exome sequencing reveals INPPL1 mutations in opsismodysplasia. C. Huber, E. A. Faqeih, D. Bartholdi, C. Bole-Feysot, Z. Borochowitz, D. P. Cavalcanti, A. Frigo, P. Nitschke, J. Roume, H. G. Santos, S. A. Shalev, A. Superti-Furga, A. L. Delezoide, K. M. Girisha, M. Wright, M. Le Merrer, A. Munnich, V. Cormier-Daire.

3043F   Novel mutations in the LRP5 gene in patients with osteoporosis-pseudoglioma syndrome. M. Pekkinen, G. Grigelioniene, L. Akin, K. Shah, K. Karaer, S. Kurtoglu, A. V. Ekbote, E. Sagsak, J. Söderholm, S. Vallius, S. Danda, E. Ĺström, O. Mäkitie.

3044W   Altered osteoblast function underlies phenotype of type V osteogenesis imperfecta. A. Reich, A. S. Bae, A. M. Barnes, W. A. Cabral, D. Chitayat, S. C. Hill, J. C. Marini.

3045T   Whole exome sequencing and functional follow up in 114 cases of non-motile ciliopathies: Jeune-asphyxiating thoracic dysplasia (JATD), short-rib-polydactyly-syndrome (SRPS), Bardet-Biedl-syndrome (BBS), Joubert syndrome (JS) and others. M. Schmidts, E. Chanudet, A. M. McInerney-Leo, C. Cortes, V. Plagnol, F. Lescai, S. Christou, H. Jungbluth, G. Haliloglu, H. Kayserili, N. Elcioglu, B. Tuyusz, M. E. Hurles, P. J. Scambler, A. Zankl, M. A. Brown, E. Duncan, UK10K, C. Wicking, P. L. Beales, H. M. Mitchison.

3046F   Haplotype analysis supports a "founder" for the Balkan OPG mutation causing juvenile Paget's disease. S. Mumm, K. Geczi, M. Huskey, D. Naot, S. Polyzos, T. Cundy, W. Van Hul, P. Singhellakis, M. P. Whyte.

3047W   Exome analysis on tubular aggregate myopathy. Y. Endo, K. Motomura, Y. K. Hayashi, S. Noguchi, I. Nonaka, M. Mori-Yoshimura, Y. Oya, I. Nishino.

3048T   Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing. F. Acke, F. Malfait, O. Vanakker, W. Steyaert, K. De Leeneer, I. Dhooge, A. De Paepe, E. De Leenheer, P. Coucke.

3049F   Mutation analysis of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. J. Stephen, A. Shukla, A. Dalal, G. Katta, N. Gupta, M. Kabra, P. Dabadghao, S. Phadke.

3050W   WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. P. Campeau, C. Laine, K. S. Joeng, R. Kiviranta, K. Tarkkonen, M. Grover, J. T. Lu, M. Pekkinen, M. Wessman, T. J. Heino, V. Nieminen-Pihala, M. Aronen, T. Laine, H. Kröger, W. G. Cole, A. E. Lehesjoki, L. Nevarez, D. Krakow, C. J. R. Curry, D. H. Cohn, R. A. Gibbs, O. Mäkitie, B. H. Lee.

3051T   Identification of novel SHOX target genes in the developing limb using a transgenic mouse model. G. A. Rappold, A. Glaser, K. Kleinschmidt, I. Scholl, R. Röth, L. Li, N. Gretz, G. Mechtersheimer, M. Karperien, A. Marchini, W. Richter, K. U. Beiser.

3052F   HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. M. S. Reuter, J. O. Sass, A. B. Ekici, I. Schanze, T. Leis, S. Uebe, R. Abou Jamra, A. Reis.

3053W   Discovery of a novel genetic disorder and increased diagnostic rate using next-generation sequencing in heterogeneous ataxias. A. H. Németh, A. C. Kwasniewska, S. Lise, R. Parolin Schnekenberg, E. B. E. Becker, K. D. Bera, M. E. Shanks, L. Gregory, D. Buck, M. Z. Cader, K. Talbot, R. de Silva, N. Fletcher, R. Hastings, S. Jayawant, P. J. Morrison, P. Worth, M. Taylor, J. Tolmie, M. O'Regan, R. Valentine, E. Packham, J. Evans, P. Clouston, A. Seller, J. Ragoussis, UK Ataxia Consortium.

3054T   Shouting won’t help: A combined strategy (next-generation sequencing and linkage analysis) to identify hereditary hearing loss genes in affected families. D. Vozzi, G. Girotto, F. Faletra, E. Rubinato, A. Morgan, D. Vuckovic, S. Lenarduzzi, M. Morgutti, P. Gasparini.

3055F   Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. T. Yang, H. Wu, Y. Chai.

3056W   Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency. S. M. K. Farhan, J. Wang, J. F. Robinson, P. Lahiry, V. M. Siu, C. Prasad, J. B. Kronick, D. A. Ramsay, C. A. Rupar, R. A. Hegele.

3057T   Reducing the cost of whole exome sequencing of parent-affected offspring trios by joint Bayesian variant calling. B. Hilbush, J. Blue-Smith, S. Lombardi, R. Littin, L. Trigg, A. Jackson, D. Ware, J. G. Cleary, F. M. De La Vega.

3058F   Systematic identification of causal mutations in Mendelian disorders using exome sequence data. B. Thomas, M. Lek, N. Clarke, L. Waddell, M. A. Depristo, M. J. Daly, J. Laporte, J. J. Dowling, C. G. Bonnemann, K. N. North, D. G. MacArthur.

3059W   Mutations in PDGFRB and NOTCH3 as causes of autosomal dominant infantile myofibromatosis. L. Tian, J. Martignetti, L. Dong, M. Ramirez, O. Camacho, C. Camacho-Vanegas, Y. Guo, D. Zand, A. Bernstein, S. Masur, C. Kim, F. Otieno, C. Hou, N. Abdel-Magid, B. Tweddale, D. Metry, J. Fournet, E. Papp, E. McPherson, C. Zabel, G. Vaksmann, C. Morisot, B. Keating, P. Sleiman, J. Cleveland, D. Everman, D. Cho, Z. Li, E. Zackai, H. Hakonarson.

3060T   Mild case of Unverricht-Lundborg disease presenting as juvenile myoclonic epilepsy. E. Andermann, D. Amrom, F. Andermann, A.-L. Lehesjoki.

3061F   Whole exome sequencing combined with homozygosity mapping in a family with mental retardation, muscle weakness, and abnormal movement. E. Jaberi, B. Farham, G. A. Shahidi, M. Rohani, I. Safari, B. Klotzle, E. Elahi.

3062W   Next-generation sequencing defines new gene(s) involved in the enlarged vestibular aqueducts and Pendred syndrome. F. Alasti, M. Hildebrand, T. Yang, R. J. H. Smith.

3063T   Haploinsufficiency of GJB5 identified via exome sequencing causes a novel form of cutis laxa. M. Dasouki, J. Roberts, K. Gonzalez, W. Zeng, M. Butler, A. Belousov, I. Saadi.

3064F   Identification of mutations causing congenital anomalies of the kidney and urinary tract through targeted sequencing. N. Nicolaou, I. J. Nijman, A. M. van Eerde, G. Monroe, E. M. Bongers, E. Cuppen, K. Y. Renkema, N. V. Knoers.

3065W   De novo germline mutations in MYL3 and DYNC1H1 genes discovered by exome sequencing in an infant with congential joint contractures. D. W. Sant, R. L. Margraf, J. Durtschi, T. M. Newcomb, J. M. Opitz, J. C. Carey, H. Zhou, B. E. Katz, K. V. Voelkerding, K. J. Swoboda.

3066T   ZNF259 is a candidate gene for alopecia-primordial dwarfism-renal syndrome. A. C. Smith, C. L. Clericuzio, A. Ahmed, S. L. Sawyer, D. E. Bulman, K. M. Boycott, FORGE Canada Consortium.

3067F   Novel MSX1 mutations in Japanese tooth agenesis patients. S. Yamaguchi, J. Machida, M. Kamamoto, M. Kimura, A. Shibata, T. Tatematsu, H. Miyachi, Y. Higashi, P. Jezewski, A. Nakayama, K. Shimozato, Y. Tokita.

3068W   Whole exome sequencing identifies variants causing different monogenic diseases in one nuclear family. Y. Li, E. Lausch, K. O. Schwab, N. van der Werf-Grohmann, T. Velten, D. Lütjohann, P. V. Lorini, U. Matysiak-Scholze, B. Zabel, A. Köttgen.

3069T   Isolated X-linked hypertrophic cardiomyopathy with restrictive physiology caused by a novel mutation of the four-and-a-half LIM domain 1 gene. H. Hartmannova, M. Kubanek, M. Sramko, L. Piherova, L. Noskova, K. Hodanova, V. Stranecky, A. Pristoupilova, J. Sovova, T. Marek, J. Maluskova, P. Ridzon, J. Kautzner, H. Hulkova, S. Kmoch.

3070F   Mutations in PIK3R1 cause SHORT syndrome. D. Dyment, A. Smith, D. Alcantara, J. A. Schwartzentruber, L. Basel-Vanagaite, C. J. Curry, I. K. Temple, W. Reardon, S. Mansour, M. R. Haq, R. Gilbert, O. J. Lehmann, M. R. Vanstone, C. L. Beaulieu, FORGE Canada Consortium, J. Majewski, D. E. Bulman, M. O'Driscoll, K. M. Boycott, A. M. Innes.

3071W   Whole exome sequencing of permanent neonatal diabetes patients. H. M. Highland, H. Ye, J. E. Below, V. P. Paz, D. Muzny, R. A. Gibbs, E. Boerwinkle, C. L. Hanis, G. I. Bell, L. H. Philipson, S. A. W. Greeley.

3072T   Pseudoxanthoma elasticum in a United States veteran. S. Konda, W. Chen, J. Toro.

3073F   A novo mutation in TLE3, encoding the transducin-like enhancer protein 3, is associated with a rare subtype of frontonasal dysplasia. Y. Xi, C. L. Beaulieu, A. C. Smith, J. Schwartzentruber, F. P. Favaro, D. B. Bulman, M. A. Guion-Almeida, A. Richieri-Costa, A. M. Innes, K. M. Boycott, FORGE Canada Consortium.

3074W   Minimal evidence for oligogenic inheritance in Joubert syndrome based on the first 20 genes. R. Bachmann-Gagescu, I. Phelps, B. O'Roak, C. Isabella, D. O'Day, M. Kircher, J. Dempsey, I. Glass, D. Witten, G. Cooper, J. Shendure, D. Doherty.

3075T   Exome sequencing identifies germline mutations in SPAG1 as a cause of primary ciliary dyskinesia associated with defective outer and inner dynein arms. M. A. Zariwala, L. E. Ostrowski, N. T. Loges, T. Hurd, M. W. Leigh, L. Huang, W. E. Wolf, J. L. Carson, M. J. Hazucha, W. Yin, S. D. Davis, S. D. Dell, T. W. Ferkol, S. D. Sagel, K. N. Olivier, C. Jahnke, H. Olbrich, C. Werner, H. Y. Gee, E. A. Otto, J. Halbritter, E. H. Turner, A. P. Lewis, M. J. Bamshad, D. A. Nickerson, F. Hildebrandt, J. Shendure, H. Omran, M. R. Knowles, Genetic Disorders of Mucociliary Clearance Consortium.

3076F   A genetic snapshot of risk alleles in the Jewish population. D. Zielinski, Y. Erlich.

3077W   Exome sequencing identifies de novo and post-zygotic mutations in GATA6 associated with congenital diaphragmatic hernia. J. Bennett, L. Yu, J. Wynn, Y. H. Cheung, Y. Shen, G. B. Mychaliska, T. M. Crombleholme, K. S. Azarow, F. Y. Lim, D. H. Chung, D. Potoka, B. W. Warner, B. Bucher, C. Stolar, G. Aspelund, M. S. Arkovitz, H. Mefford, W. K. Chung, University of Washington Center for Mendelian Genomics.

3078T   Whole exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies. Y. Kondo, E. Koshimizu, A. Megarbane, H. Hamanoue, I. Okada, K. Nishiyama, H. Kodera, S. Miyatake, Y. Tsurusaki, M. Nakashima, H. Doi, N. Miyake, H. Saitsu, N. Matsumoto.

3079F   Depletion of exome sequencing reads reveals a 14kb homozygous deletion in a patient with PHARC syndrome. T. Harel, C. Gonzaga-Jauregui, T. O. Crawford, M. Koenig, R. A. Gibbs, J. R. Lupski, Baylor-Hopkins Center for Mendelian Genomics.

3080W   From monogenic to oligogenic: strategies to uncover oligogenic modes of inheritance in individuals with intellectual disability. W. D. Jones, M. Van Kogelenberg, D. King, T. Fitzgerald, H. V. Firth, M. E. Hurles, J. C. Barrett, Deciphering Developmental Disorders Study.

3081T   Integrative genomics reveals that distal cis-regulatory mutations cause isolated pancreatic agenesis. M. N. Weedon, I. Cebola, A. Patch, S. E. Flanagan, E. De Franco, R. Caswell, S. A. Rodríguez-Seguí, C. Shaw-Smith, C. Cho, H. Lango Allen, J. A. L. Houghton, C. L. Roth, R. Chen, K. Hussain, P. Marsh, L. Vallier, A. Murray, S. Ellard, J. Ferrer, A. T. Hattersley.

3082F   Clinical exome sequencing identifies de novo mutations in the MLL gene causing atypical Wiedemann-Steiner syndrome in two unrelated Individuals. F. Quintero-rivera, S. P. Strom, J. Mann, R. Lozano, H. Lee, N. Dorrani, O. O'Lague, N. Mans, J. l. Deignan, E. Vilain, S. F. Nelson, W. W. Grody.

3083W   Follow-up of diagnostic exome sequencing in persons with severe intellectual disability: Re-analysis of data, recurrency screening, CNV detection and genome sequencing. L. Vissers, H. IJntema, J. Hehir-Kwa, C. Gilissen, J. de Ligt, R. Leach, R. Tearle, W. Nillesen, B. van Bon, M. Willemsen, H. Scheffer, H. Brunner, B. de Vries, T. Kleefstra, J. Veltman.

3084T   Mutation analysis of the RBPJ gene in Adams-Oliver syndrome patients. W. Wuyts, F. de Vogel, E. Van Hul.

3085F   Application of targeted next-generation sequencing in the diagnosis of pediatric neurological disorders. N. Okamoto, F. Miya, T. Tsunoda, M. Kato, S. Saitoh, M. Yamasaki, Y. Kanemura, K. Kosaki.

3086W   Disruption of the Rac GTPase activator DOCK7 in epileptic enecephalopathy. F. F. Hamdan, J. M. Capo-Chichi, B. Maranda, G. A. Rouleau, J. L. Michaud.

3087T   Whole genome sequencing, clinical interpretation, and deep brain stimulation in a severely mentally ill person. G. J. Lyon, J. O'Rawe, R. Robison, E. Kiruluta, G. Higgins, M. Reese.

3088F   Genes make sense: Seeking causative genes for human congenital general anosmia. A. Alkelai, T. Olender, P. Tatarskyy, V. Boyko, D. Oz-Levi, I. Keydar, R. Milgrom, E. Feldmesser, E. Ben-Asher, E. K. Ruzzo, D. B. Goldstein, E. Pras, D. Lancet.

3089W   Genetic mapping and whole exome sequencing to unravel the genetic basis of undiagnosed non-syndromic arthrogryposis multiplex congenita. J. Melki, J. Maluenda, A. Camus, F. Nolent, L. Fontenas, K. Dieterich, J. Zhou, N. Monnier, P. Latour, D. Heron, T. Attie-Bitach, I. Desguerres, S. Lyonnet, C. Beneteau, C. Bauman, D. Bonneau, A. Goldenberg, C. Bellesme, C. Francannet, L. Rigonnot, S. Sigaudy, J. Lunardi, S. Odent, P. S. Jouk, M. Granier, D. Sternberg, I. Gut, M. Tawk, M. Gonzales, A. Laquerriere.

3090T   Scientific advances from removing the financial barrier: Results of the NGS pilot program at Boston Children's Hospital. C. A. Brownstein, W. A. Wolf, T. W. Yu, L. M. Kunkel, C. A. Walsh, A. H. Beggs, D. M. Margulies.

3091F   Alu Yb8 insertion near SMN1 exon 7 as a rare cause of SMA. S. M. Kirwin, K. M. B. Vinette, I. L. Gonzalez, S. L. Dugan, K. J. Swoboda, T. M. Newcomb, V. L. Funanage.

3092W   Identification of a novel GATA3 mutation in a Taiwanese family with idiopathic sensorineural hearing impairment by massively parallel sequencing. Y. H. Lin, C. C. Wu, T. Y. Hsu, W. Y. Chiu, C. J. Hsu, P. L. Chen.

3093T   DNM2 — Related centronuclear myopathy found with the use of exome sequencing in a patient with clinical diagnosis of peripheral neuropathy. D. Safka Brozkova, J. Haberlova, M. Gonzales, S. Zuchner, P. Seeman.

3094F   Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next-generation sequencing. X. Wang, H. Wang, V. Sun, H. Tuan, V. Keser, K. Wang, H. Ren, I. Lopez, J. E. Zaneveld, S. Siddiqui, S. Bowles, A. Khan, J. Salvo, S. G. Jacobson, A. Iannaccone, F. Wang, D. Birch, J. R. Heckenlively, G. A. Fishman, E. I. Traboulsi, Y. Li, D. Wheaton, R. K. Koenekoop, R. Chen.

3095W   A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. B. D. Webb, T. Brandt, L. Liu, J. Liao, C. Jalas, A. Fedick, M. D. Linderman, G. A. Diaz, R. Kornreich, H. Trachtman, L. Mehta, L. Edelmann.

3096T   De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. D. L. Dinwiddie, S. E. Soden, C. J. Saunders, N. A. Miller, E. G. Farrow, L. D. Smith, S. F. Kingsmore.

3097F   Unraveling disease genes causing autosomal recessive disorders in Qatari population by whole exome sequencing. S. Fahiminiya, M. Almuriekhi, Z. Nawaz, K. H. Abu Khadija, J. Majewski, T. Ben-Omran.

3098W   Exome sequencing unveils novel disease-causing variation in a Charcot-Marie-Tooth disease cohort. C. Gonzaga-Jauregui, T. Harel, D. Pehlivan, Y. Okamoto, W. Wiszniewski, D. Muzny, R. A. Gibbs, J. R. Lupski, Centers for Mendelian Genomics.

3099T   A novel missense mutation in EDAR underlies the autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis. H. Haghighi-Kakhki, A. Haghighi, P. Nikuei, N. Saleh-Gohari, S. baghestani, P. Krawitz, J. Hecht, S. Mundlos.

3100F   Whole exome sequencing and genome-wide homozygosity mapping analysis of fetal autopsy tissue reveals a putative pathogenic frameshift mutation in OBSL1, consistent with a diagnosis of 3-M syndrome. A. C. Lionel, R. F. Wintle, S. Farrell, D. Cushing, T. Paton, T. L. Stockley, D. J. Stavropoulos, P. N. Ray, M. Szego, L. Lau, S. L. Pereira, C. R. Marshall, S. W. Scherer.

3101W   Functional evaluation of candidate mutations identified in whole exome sequneces of patients with undiagnosed diseases. Y. Lu, P. Xie, E. Ruzzo, A. Need, V. Shashi, Y. Jiang, X. Zhu, D. Goldstein.

3102T   Whole exome sequencing identifies novel mutations in three families with GAPO syndrome. D. Pehlivan, E. Karaca, T. Gambin, S. N. .Jhangiani, G. G. Gonzaga-Jauregui, Y. Bayram, W. Wiszniewski, A. H. Cebi, D. Muzny, M. M. Atik, R. A. Gibbs, M. Selman Yildirim, A. Zamani, D. Gul, N. H. Elcioglu, B. Bozkurt, J. R. Lupski.

3103F   A genome-wide catalogue of genetic variants for nephrotic syndrome via whole genome sequencing. M. G. Sampson, A. Tan, C. A. Gadegbeku, J. Sedor, M. Kretzler, H. M. Kang, Nephrotic Syndrome Study Network (NEPTUNE), Michigan O’Brien Renal Center (CPROBE).

3104W   Personalized functional genomics approach elucidates novel Mendelian disease genes and provides proof of pathogenicity for variants of uncertain significance. P. Bonnen, A. Besse, S. Lalani, W. Craigen, F. Scaglia, R. McFarland, C. Bacino, R. Taylor, K. Scott.

3105T   Genotype-phenotype correlation in a national mutation study of Danish patients with HHT. P. M. Torring, K. Brusgaard, L. B. Ousager, P. E. Andersen, A. D. Kjeldsen, HHT Centre, Odense University Hospital.

3106F   Exome sequencing of subjects with congenital insensitivity to pain and their family members to reveal novel pain genes. B. Zhang, W. He, J. Stephens, B. Sidders, S. Scollen, S. Paciga, L. Wood, M. Sudworth, G. Johnson, S. John, N. Danziger, C. Vangjeli.

3107W   Whole exome sequencing of a dominant retinitis pigmentosa family with female-specific expressivity identifies a novel deletion in PRPF31. E. E. Davis, A. Villanueva, J. R. Willer, E. T. Dermitzakis, N. Katsanis.

3108T   A new palmoplantar keratoderma with severe erythermalgia allelic to Olmsted syndrome. S. Duchatelet, S. Pruvost, S. De Veer, S. Fraitag, P. Nitschké, C. Bole-Feysot, C. Bodemer, A. Hovnanian.

3109F   A mutation in A-band titin is associated with hereditary myopathy with early respiratory failure in a Japanese family. R. Izumi, T. Niihori, Y. Aoki, N. Suzuki, M. Kato, H. Warita, T. Takahashi, M. Tateyama, T. Nagashima, R. Funayama, K. Abe, K. Nakayama, M. Aoki, Y. Matsubara.

3110W   Exome sequencing of familial Hodgkin’s kindreds. V. Joseph, T. Thomas, M. Artomov, K. Schrader, A. Kiezun, C. Manschreck, R. Rau Murthy, M. Corines, X. Wei, N. Gupta, L. Margolin, A. Zelenetz, C. Portlock, G. Getz, R. Klein, D. Haber, M. Daly, S. Lipkin, D. Altshuler, K. Offit.

3111T   ITPR2 loss-of-function mutation causes familial generalized anhidrosis and hyperthermia. J. Klar, C. Hisatsune, S. M. Baig, M. Tariq, A. C. V. Johansson, M. Rasool, N. A. Naveed, K. Sugiura, L. Feuk, K. Mikoshiba, N. Dahl.

3112F   A comprehensive disease-mutation search of mitochondrial respiratory chain disorder. M. Kohda, Y. Tokuzawa, Y. Moriyama, H. Kato, Y. Kishita, N. Uehara, S. Tamaru, Y. Yamashita-Sugahara, Y. Nakachi, N. Matoba, T. Yamazaki, M. Mori, K. Murayama, Y. Mizuno, A. Ohtake, Y. Okazaki.

3113W   Mutation in ATP6AP2, an essential accessary subunit of vacuolar ATPase, causes X-linked Parkinson disease with spasticity. E. Korvatska, T. Strovas, D.-H. Chen, J. B. Leverenz, K. Kiianitsa, I. F. Mata, D. A. Nickerson, C. P. Zabetian, B. C. Kraemer, T. D. Bird, W. H. Raskind.

3114T   Identification of genetic defects in cone and cone-rod dystrophy by whole exome sequencing. C. Lazar, L. Zelinger, M. Mutsuddi, L. Mizrahi-Meissonnier, A. Boleda, R. R. Priya, E. Banin, D. Sharon, A. Swaroop.

3115F   A novel germline PIGA mutation in ferro-cerebro-cutaneous syndrome: A neurodegenerative X-linked encephalopathy with epilepsy and systemic iron-overload. R. L. Margraf, E. M. Coonrod, J. Durtschi, K. Mallempati, A. Kumanovics, T. M. Newcomb, J. M. Opitz, J. C. Carey, H. Zhou, B. E. Katz, K. V. Voelkerding, K. J. Swoboda.

3116W   Deciphering the genetic background of PEHO-like syndrome. M. Muona, A. Laari, A.-K. Anttonen, M. Somer, A. Palotie, A.-E. Lehesjoki.

3117T   Aicardi Goutieres syndrome — Phenotypic variability and diagnosis in a series of cases using whole exome sequencing. V. Narayanan, S. Szelinger, J. J. Corneveaux, I. Schrauwen, A. L. Siniard, A. A. Kurdoglu, I. Malenica, K. M. Ramsey, D. W. Craig, M. J. Huentelman.

3118F   Exome sequencing identifies mutations in a novel gene in patients with Noonan syndrome. T. Niihori, Y. Aoki, T. Banjo, N. Okamoto, S. Mizuno, K. Kurosawa, T. Ogata, F. Takada, M. Yano, T. Ando, T. Hoshika, C. Barnett, H. Ohashi, H. Kawame, T. Hasegawa, T. Okutani, T. Nagashima, S. Hasegawa, R. Funayama, T. Nagashima, K. Nakayama, S. Inoue, Y. Watanabe, T. Ogura, Y. Matsubara.

3119W   Identification of pathogenic variants in idiopathic scoliosis. S. Patten, E. Alix, A. Labalme, S. Girard, B. Biot, C. Poizat, D. Sanlaville, J. Berard, G. Rouleau, F. Clerget-Darpoux, P. Drapeau, F. Moldovan, P. Edery.

3120T   Exome sequencing is the preferred approach for identifying the genetic cause in consanguinous and non-consanguinous recessive disease. H. Smeets, J. Vanoevelen, M. Gerards, R. Kamps, T. Theunissen, B. De Koning, I. Boesten, M. van Geel, P. Lindsey, C. Stumpel, M. Nguyen, M. Gerrits, S. Ghesquiere, S. Stevens, C. de Die, B. van den Bosch, I. De Coo.

3121F   Next-generation sequencing identities PXDN mutations in patients with complex microphthalmia and anterior segment eye disease. A. Slavotinek, A. Choi, R. Lao, P. Ling-Fung Tang, W. Mayer, E. Wan, T. Bardakjian, P. Y. Kwok, A. Schneider.

3122W   Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. P. Makrythanasis, M. Nelis, F. A. Santoni, M. Guipponi, A. Vannier, F. Béna, S. Gimelli, E. Stathaki, S. Temtamy, A. Megarbané, A. Masri, M. S. Aglan, M. S. Zaki, A. Bottani, S. Fokstuen, S. Kitsiou-Tzeli, H. Fryssira, E. Kanavakis, N. Al-Allawi, A. Sefiani, S. Al-Hait, S. C. Elalaoui, N. Jalkh, L. Al-Gazali, F. Al-Jasmi, H. Chaabouni Bouhamed, E. Abdalla, D. N. Cooper, H. Hamamy, S. E. Antonarakis.

3123T   Exome sequencing identifies loss of function mutations in UBE3B in a family with intellectual and developmental delay, hypotonia, distal digital hypoplasia, and hearing loss. Y. R. Li, S. A. Shalev, J. Liang, Y. Guo, J. Zhang, B. J. Keating, Y. Chen, L. Tian, S. S. Vergano, X. Xu, H. Hakonarson, J. Wang, M. A. Deardorff.

3124F   Affected sib analysis of human X-exome data to identify novel X-linked intellectual disability genes. T. Niranjan, C. Skinner, T. Turner, M. May, L. Holloway, A. Chakravarti, C. Schwartz, T. Wang.

3125W   Novel C10orf2 mutations cause Perrault syndrome. H. Kawakami, H. Morino, R. Miyamoto, H. Maruyama.

3126T   Novel clinical presentations associated with mutations in nuclear genes of the mitochondrial translation apparatus. M. Rio, Z. Assouline, A. S. Lebre, N. Boddaert, I. Desguerre, A. Munnich, A. Rotig.

3127F   Targeted sequencing of mitochondrial exome in pediatric patients with mitochondrial diseases. M. Tesarova, T. Honzik, H. Kratochvilova, A. Vondrackova, V. Stranecky, M. Rodinova, H. Hansikova, J. Zeman.

3128W   Whole genome sequencing for rapid identification of sequence variants associated with recessive canine disease models. G. S. Johnson, D. P. O'Brien, R. Zeng, D. Gilliam, T. Mhlanga-Mutangadura, J. R. Coates, M. L. Katz, J. F. Taylor, R. D. Schnabel.

3129T   Whole exome sequencing on two fetuses with centronuclear myopathy of consanguineous parents from Sudan shows two possible candidates. N. Dohrn, V. G. Le, A. Petersen, P. Skovbo, I. S. Pedersen, A. Ernst, H. Krarup, M. B. Petersen.

3130F   Value of whole exome sequencing for novel variant identification in Leber congenital amaurosis. Y. Guo, I. Prokudin, C. Yu, J. Liang, Y. Xie, M. Flaherty, L. Tian, S. Crofts, F. Wang, J. Snyder, C. Donaldson, N. Abdel-Magid, L. Vazquez, B. Keating, H. Hakonarson, J. Wang, R. Jamieson.

3131W   C5orf42 is the major gene responsible for OFD syndrome type VI. E. Lopez, C. Thauvin-Robinet, N. El Khartoufi, L. Devisme, M. Holder, H. Ansart-Franquet, D. Lacombe, P. Kleinfinger, I. Kaori, J. I. Takanashi, M. Le Merrer, J. Martinovic, C. Noël, M. Shboul, L. Ho, Y. Güven, F. Razavi, L. Burglen, V. Darmency-Stamboul, M. Avila, J. Thevenon, B. Aral, H. Kayserili, S. Lyonnet, C. Le Caignec, B. Franco, B. Reversade, L. Faivre, J. B. Rivičre, T. Attié-Bitach.

3132T   Independent origin of multifocal skin tumors and high frequency of mosaicism in patients with tuberous sclerosis complex. M. E. Tyburczy, J. Wang, S. Li, R. Thangapazham, Y. Chekaluk, J. Moss, D. Kwiatkowski, T. Darling.

3133F   REPS1 is a novel gene of neurodegeneration with brain iron accumulation. A. Drecourt, N. Boddaert, I. Desguerre, D. Chretien, A. Munnich, A. Rotig.

3134W   Challenging diagnostic cases resolved by whole exome sequencing. S. F. Suchy, J. E. Abdenur, T. Ben-Omran, W. K. Chung, K. Leydiker, S. J. Bale, A. Daly, E. V. Haverfield.

3135T   Exome sequencing utility for implication of genes in Mendelian disorders. S. Jhangiani, M. Bainbridge, C. Gonzaga-Jauregui, W. Wiszniewski, T. Gambin, J. Lu, H. Doddapaneni, M. Wang, C. Buhay, H. Dinh, Y. Han, C. Kovar, J. Santibanez, J. Reid, D. Valle, E. Boerwinkle, D. Muzny, J. Lupski, R. Gibbs, Centers for Mendelian Genomics.

3136F   Autosomal dominant FSGS without extra-renal symptoms due to mutations in LMX1B gene. K. J. Johnson, O. Boyer, S. Woerner, F. Yang, E. O. Oakeley, B. Linghu, O. Gribouval, M.-J. Tete, J. S. Duca, L. Klickstein, A. J. Damask, J. D. Szustakowski, F. Heibel, M. Matignon, V. Baudouin, F. Chantrel, J. Champigneuelle, L. Martin, P. Nitshke, M.-C. Gubler, S.-D. Chibout, C. Antignac.

3137W   Niemann-Pick disease type C caused by maternal uniparental isodisomy of chromosome 18. M. Fietz, S. Stark, A. Leo, G. Jenkins, B. Bennetts, J. Christodoulou.

3138T   Leber congenital amaurosis with early-onset severe macular atrophy and optic atrophy is likely pathognomonic of NMNAT1 mutations. I. Perrault, M. Nicouleau, S. Hanein, N. Delphin, B. Gilbert-Dussardier, C. Vincent-Delorme, C. Edelson, C. Hamel, E. Silva, S. Defoort-Delhemmes, L. Fares-Taie, S. Gerber, X. Gerard, A. Goldenberg, A. Duncombe, G. Le Meur, P. Calvas, A. Munnich, O. Roche, H. Dollfus, J. Kaplan, J. Rozet.

3139F   Lujan-Fryns Syndrome — Conglomeration of different genetic entities? K. Hackmann, S. Maas, N. Di Donato, E. Schrock, V. M. Kalscheuer, A. Rump.

3140W   Expression of mouse acidic mammalian chitinase in periplasmic space of Escherichia coli. K. Okawa, A. Kashimura, K. Ishikawa, Y. Kida, K. Iwabuchi, Y. Matsushima, M. Sakaguchi, Y. Sugahara, F. Oyama.

3141T   Familial generalized seizures due to LGI1 mutation: Importance of family history for genetic testing. D. R. M. Amrom, F. Andermann, E. Andermann.

3142F   Type V osteogenesis imperfecta: Don’t miss the subtleties. E. M. Carter, C. L. Raggio, J. G. Davis.

3143W   Mesenteric cyst: A case report and a review of the genetic implications of this rare disease. J. Davalos.

3144T   The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. R. H. Kim, D. A. Hall, E. Cutz, M. R. Knowles, K. Nelligan, K. Nykamp, M. A. Zariwala, S. D. Dell.

3145F   Genotype-phenotype correlation in Bardet- Biedl syndrome. O. Mhamdi, H. Chaabouni.

3146W   Fragile X triplet repeat instability is influenced by both the presence and position of AGG interruptions in intermediate and premutation alleles. S. Nolin, R. Cao, J. Taylor, A. Glicksman, N. Ersalesi, W. T. Brown, J. Coppinger, G. Latham, A. Hadd.

3147T   Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. A. Haghighi, M. Razzaghy-Azar, A. Talea, M. Sadeghian, S. Ellard, A. Haghighi.

3148F   Phenotype - genotype correlation in a Colombian oculocutaneous albinism cohort. C. Lattig, D. Sanabria, A. Fernandez, O. Urtatiz, Fundacion Contraste - Albinos por Colombia.

3149W   Support to the International Rare Diseases Research Consortium: A new service to the research community. P. Lasko, B. Cagniard, S. Höhn, R. Favresse, D. Désir-Parseille, S. Peixoto, M. Bellanger, N. Lévy, S. Aymé.

3150T   Role of CFTR in regulating spermatogenesis and implications in male infertility. H. Sharma, R. Prasad, S. K. Singh, R. Mohan.

3151F   Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin. M. Zatz, R. C. M. Pavanello, M. Lazar, N. C. V. Lourenço, A. Cerqueira, L. Nogueira, M. Vainzof.

3152W   MEFV gene mutation detection In Arabic patients. R. Taha, S. Ayesh, M. Kambouris, H. El-Shanti.

3153T   PhenomeCentral: An integrated portal for sharing and searching patient phenotype data for rare genetic disorders. M. Brudno, M. Girdea, S. Dumitriu, S. Köhler, P. N. Robinson, A. J. Brookes, K. Boycott, C. F. Boerkoel, W. A. Gahl, Canadian CARE for RARE Consortium (FORGE) and NIH Undiagnosed Diseases Program.

3154F   Ocular phenotypes in aneurysm syndromes collected from GenTAC (National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry. G. Oswald, K. W. Holmes, S. LeMaire, W. Ravekes, N. B. McDonnell, C. Maslen, R. V. Shohet, R. E. Pyeritz, R. Devereux, D. M. Milewicz, E. M. Reynolds, J. P. Habashi, GenTAC Registry Consortium.

3155W   Budd-Chiari syndrome as the presenting symptom of familial thrombotic thrombocytopenic purpura caused by a novel frameshift mutation of ADAMTS13. R. Parvari, M. Arafat, K. Akel, B. Yerushalmi, M. Aviram, D. Landau.

3156T   In silico and molecular analyses of mutations that alter mRNA splicing of COL1A1. J. Schleit, S. Bailey, T. Tran, D. Chen, P. H. Byers.

3157F   Characterization of Escherichia coli-expressed acidic mammalian chitinase. A. Kashimura, K. Okawa, K. Ishikawa, Y. Kida, K. Iwabuchi, Y. Matsushima, M. Sakaguchi, Y. Sugahara, F. Oyama.

3158W   Total uniparental isodisomy of all 23 paternal chromosomes with whole genome homozygozity in blood but not in skin in a Czech girl with deafness. P. Seeman, M. Malíková, J. Neupauerová, M. Trková, M. Putzová.

3159T   Genotype and family analysis of 68 Thai families with Duchenne muscular dystrophy. L. Choubtum, K. Taweechue, W. Khunin, S. Nujarean, C. Limwongse, D. Wattanasirichaigoon.

3160F   Novel mutations in EDA gene in hypodontia and curly hair. J.-W. Kim, K.-E. Lee, J. Ko.


Development

 

3161W   Defects in Nek8 result in abnormal specification of developmental patterning, polycystic kidney disease, and impaired response to replication stress. D. R. Beier, D. K. Manning, M. Sergeev, S. Houghtaling, P. Czarnecki, M. Garnass, H. J. C. Choi, W. Goessling, K. A. Cimprich, J. V. Shah.

3162W   Mutation in the mouse homolog of C5ORF42 disrupts ciliogenesis and causes cerebellar defects and other Joubert syndrome phenotypes associated with the disruption of SHH signaling. R. Damerla, C. Cui, G. Gabriel, X. Liu, B. Gibbs, R. Francis, Y. Li, B. Chatterjee, M. Srour, J. L. Michaud, G. J. Pazour, C. W. Lo.

3163W   NIH study, Clinical and Molecular Investigations into Ciliopathies: Findings on Joubert syndrome and related disorders. J. K. de Dios, D. Doherty, I. G. Phelps, T. Vilboux, A. Cullinane, D. Yildirimli, J. Shendure, B. O'Roak, J. Bryant, W. Zein, B. Brooks, R. Fischer, K. Daryanani, B. Turkbey, P. Choyke, J. Snow, T. Heller, M. Parisi, M. Huizing, W. A. Gahl, M. Gunay-Aygun.

3164W   Nephronophthisis type 3 with bone marrow fibrosis caused by NPHP3 gene mutations: Expanding the clinical phenotype of a ciliopathy. E. Leon, T. Biagi, K. Mistry.

3165W   Investigating the clinical features and genetics of idiopathic generalized epilepsy starting in mothers of babies with epilepsy. S. Ghavimi, H. Azimi.

3166W   The role of fibrillin-1 in human mesenchyme stem cell adipogenesis. M. R. Davis, C. Duffy, P. DeSousa, V. MacRae, K. M. Summers.

3167W   Reappraising the child and adult findings from Eastern Quebec kindreds: A protective-compensatory model may reconcile the genetic and the developmental findings in schizophrenia. M. Maziade, T. Paccalet, M. Battaglia.

3168W   Heritability of obesogenic growth trajectories during development in a model system. C. Schmitt, S. Service, R. Cantor, A. Jasinska, M. Jorgensen, J. Kaplan, N. Freimer.

3169W   Functional assessment of type 2 diabetes-associated loci in pancreatic β-cell specification. E. A. Robb, N. A. Zaghloul.

3170W   Recapitulation of metatropic dysplasia phenotypes in mice expressing mutant TRPV4. M. M. Weinstein, S. W. Tompson, Y. Chen, B. Lee, D. H. Cohn.

3171W   Mandibular Prdm16 expression is critical to normal secondary palate formation in the mouse. B. C. Bjork, L. N. Furlan, B. T. Nelson, L. Pitstick.

3172W   Mouse models reveal an essential role for RERE in eye development. B. Kim, O. Shchelochkov, M. Justice, B. Lee, D. Scott.

3173W   Functional and mutational analysis of long-range enhancers of ZIC3 in patients with congenital heart defects and laterality in zebrafish models. J. Marino, S. Hook, P. Hu, R. Hart, E. Rossler, J. A. Towbin, J. W. Belmont, L. Ribeiro-Bicudo, M. Muenke.

3174W   Functional characterization of Gli2 in normal breast development and in breast cancer. C. Zhao, P. A. Beachy.

3175W   Modeling Foxf1 deficiency and overexpression in mice. A. V. Dharmadhikari, B. Carofino, M. G. Hill, X. Ren, T. V. Kalin, J. Zabielska, W.-Y. Wan, T. Majewski, H. B. Brown, A. Gambin, P. Szafranski, V. V. Kalinichenko, M. J. Justice, P. Stankiewicz.

3176W   Transgenic zebrafish expressing mutant skeletal muscle actin acta1a genes model human nemaline myopathy. O. Ceyhan, A. H. Beggs.

3177W   Zebrafish ptk7 loss-of-function mutants reveal useful genetic models for human congenital and idiopathic scoliosis. M. Hayes, B. Ciruna.

3178W   FGF ligands regulate chondrocyte differentiation in the proximal limb. I. H. Hung, D. M. Ornitz, G. C. Schoenwolf, M. Lewandoski.

3179W   The maternal polymorphism rs2236131 in ITPK1 gene is associated with neural tube defects in a high-risk Chinese population. Z. Guan, J. H. Wang, J. Guo, F. Wang, X. W. Wang, G. N. Li, Q. Xie, X. Han, B. Niu, T. Zhang.

3180W   SPECC1L deficiency causes neural crest cell delamination and migration defects in orofacial clefting. I. Saadi, N. R. Wilson, A. J. Olm-Shipman, E. Kosa, D. S. Acevedo, K. M. Stumpff, G. Smith, L. Pitstick, B. C. Bjork, A. Czirok.

3181W   Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling. J. C. Loke, A. Pearlman, H. Ostrer.

3182W   Losartan increases bone mass by direct inhibition of osteoclasts. S. Chen, T. Sibai, N. Rianon, T. Yang, J. Black, E. Munivez, T. Bertin, B. Dawson, Y. Chen, B. Lee.

3183W   The role of the ELOVL gene family in neurodevelopmental disorders. J. Gerard, A. Moreno-De-Luca, D. W. Evans.

3184W   AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome. M. J. Lindhurst, J. Wang, H. Bloomhardt, A. M. Witkowski, L. N. Singh, D. P. Bick, M. J. Gambello, C. M. Powell, C. R. Lee, T. N. Darling, L. G. Biesecker.

3185W   Function of miR-199a-5p in stage-specific osteogenesis of human mesenchymal stem cells. S. Gu, X. Chen, B. F. Chen, G. Li, H. W. Ouyang, C. Wan, T. L. Lee, W. Y. Chan.

3186W   DFLAT: Functional annotation for human development. H. C. Wick, D. P. Hill, H. Drabkin, H. Ngu, M. Sackman, C. Fournier, J. Haggett, J. A. Blake, D. W. Bianchi, D. K. Slonim.

3187W   Transcriptome and pathway analysis of fetal and adult human retina, RPE, and choroid. A. S. Boleda, M. Brooks, A. Maminishkis, S. Miller, A. Swaroop.


Cytogenetics

 

3188T   Ring chromosomes aberrations at a pediatric Mexican hospital: Two cases with mosaicism of chromosome 13, 46XY/46, XY, r (13) and chromosome 18, 46, XY/46, XY, r (18). M. Hurtado-Hernadez, J. M. Aparicio-Rodriguez, M. Barrientos-Perez, S. Chatelain-Mercado.

3189F   Inverted duplication with terminal deletions: Variations on a theme. N. Christacos, S. Schonberg, C. Lau, J. Kelly, P. Mowrey.

3190T   Infertility related to a rearrangement of the Y chromosome. P. A. Delgado, S. Iyer, A. Jarrin, N. Rao, C. A. Tirado.

3191F   A further case of de novo isochromosome 18q with additional skeletal system abnormalities. E. Karaca, T. R. Ozdemir, A. Durmaz, F. Ozkinay, O. Cogulu.

3192T   Tetrasomy 13q32.2qter due to an apparent inverted duplicated neocentric marker chromosome in an infant with hemangiomas, failure to thrive, laryngomalacia, and tethered cord. J. Liu, M. Del Vecchio, D. Pezanowski, H. Punnett, J. P. de Chadarévian.

3193F   Prenatal diagnosis of a complex 9 break rearrangement requires karyotype, microarray and whole-genome sequencing. M. J. Macera, A. Sobrino, B. Levy, V. Jobanputra, V. Aggarwal, A. Mills, C. Esteves, C.-Y. Yu, C. Hanscom, V. Pillalamarri, M. Talkowski, D. Warburton.

3194T   Familial translocation t(4p;8p) associated with a phenotype of combined hyperlipidemia. N. Quaresemin, M. L. M. Castro, C. H. P. Grangeiro, J. A. Josahkian, C. M. Lourenço, L. A. F. Laureano, J. Huber, E. S. Ramos, L. Martelli.

3195F   Mosaicism of a supernumerary marker ring chromosome six in a patient with Turner phenotype. J. Rojas Martínez, Y. P. Guatibonza, J. C. Prieto, O. M. Moreno.

3196T   Clinical and molecular characterization of a subtelomeric deletion of 19p13.3 including STK11 with Peutz-Jeghers syndrome. S. Ishimaru, T. Kudo, T. Murakoshi, R. Fukuzawa, T. Kuchikata, H. Yoshihashi.

3197F   Association between abnormal phenotype and chromosome heteromorphisms. J. D. Grzesiuk, C. S. Pereira, F. G. O. Gennaro, L. A. F. Laureano, S. A. Santos, J. Huber, L. Martelli.

3198T   Ring chromosome 11: Familial case with normal development.and short stature. Further delineation of this rare cytogenetic abnormality. A. Singer, R. Berger, R. Segal, C. Vinkler.

3199F   Mosaic Turner syndrome with unilateral absence of digital phalanges and renal agenesis. H. Ulucan, A. Koparir, G. Guven, A. Celebi, E. Koparir, M. Seven, M. Ozen.

3200T   A de novo case of 5q33.3-q34 interstitial triplication together with uniparental isodisomy of 5q34-qter. A. Fujita, H. Suzumura, N. Harada, N. Matsumoto, N. Miyake.

3201F   Xq28 duplication including MECP2 in 11 French affected females: What can we learn for diagnosis and genetic counselling? S. El Chehadeh, R. Touraine, F. Prieur, M. Doco-Fenzy, T. Bienvenu, S. Chantot, C. Philippe, N. Marle, P. Callier, A. L. Mosca-Boidron, F. Mugneret, N. Lemeur, A. Goldenberg, P. Chambon, V. Satre, C. Coutton, P. S. Jouk, F. Devillard, A. Afenjar, M. C. Addor, A. Ferrarini, S. Lebon, D. Martinet, J. L. Alessandri, S. Drunat, C. Thauvin-Robinet, J. Thevenon, N. Perreton, V. Desps Portes, L. Faivre.

3202T   Clinical features in a pediatric population due to chromosome deletions at a third level pediatric Mexican hospital in 19-year period of time: Five case reports. S. Chatelain, J. M. Aparicio-Rodriguez, M. L. Hurtado-Hernandez, M. Barrientos-Perez, R. Zamudio-Meneses, M. Palma-Guzmán, H. Chavez-Ozeki.

3203F   Syndromic intellectual disability in a patient with 3.5 Mb deletion at 1p13.3. H. Cho, K. Ha, L. C. Layman, H. Kim.

3204T   Molecular cytogenetic analysis of 8p23.1: About two Tunisian patients. H. Ben Khelifa, M. Kammoun, I. Ben Haj Hmida, H. Hannechi, N. Soyah, H. Elghezal, A. Saad, S. Mougou-Zrelli.

3205F   Silver and titanium dioxide nanoparticles role in genotoxicity. A. Ganapathi, L. Koude, V. Mariganti, P. Upendram, Q. Hasan, B. Priyanka, R. Rohit, R. Devaki.

3206T   Mosaicism involving a normal cell line and an unbalanced structural rearrangement. B. M. Shaw, S. Elrefai, B. Wolf, L. Whiteley, M. Strecker, K. Hovanes, M. Cankovic, S. Michalowski.

3207F   High resolution copy number analysis of genes involved in gonadal differentiation in patients with disorder of sexual development. S. A. Yatsenko, F. X. Schneck, J. Fox, S. Madan-Khetarpal, S. F. Witchel, U. Surti, A. Rajkovic.

3208T   22q11.2 Deletion in patients with syndromic cleft lip and palate. S. Carpeta, I. Zarante, M. C. Martinez, O. M. Moreno.

3209F   Co-occurrence of 22q11 deletion syndrome and HDR syndrome. R. Fukai, N. Ochi, N. Matsumoto, N. Miyake.

3210T   Generation of a custom array for copy number variation in congenital diaphragmatic hernia. M. Russell, K. Darvishi, M. Longoni, C. H. Hsieh, F. High, A. Kashani Pour, A. Tracy, C. Coletti, C. Zhang, B. Pober, K. Lage, C. Lee, P. Donahoe.

3211F   Multiplex ligation-dependent probe amplification for detection of copy number variation in early-onset glaucoma patients from the U.S. K. Allen, M. Janessian, K. Linkroum, W. Abdrabou, E. DelBono, J. L. Wiggs.

3212T   Autoimmune disorders as late onset feature of 16p11.2 duplications. C. Lowther, D. J. Stavropoulos, S. Dyack, A. L. Lionel, C. R. Marshall, S. W. Scherer, A. S. Bassett.

3213F   Evaluation of newborns with multiple congenital anomalies by array-CGH: The experience of a public hospital from Southern Brazil. M. Riegel, L. Dorfman, R. Mergener, K. de Souza, J. C. Leite.

3214T   Germline DNA copy number variation investigation in individuals with argyrophilic grain disease reveals CTNS as a plausible candidate gene. C. Rosenberg, L. Kimura, D. Schlesinger, A. Gonçalves, P. L. Pearson, C. K. Suemoto, C. Pasqualucci, A. C. Krepischi, L. T. Grinberg, D. Vilella.

3215F   DUF1220 domain copy number associated with extreme brain size in individuals with 1q21 copy number variations. V. B. Searles, J. Davis, S. W. Cheung, S. C. S. Nagamani, J. Sikela.

3216T   Delineation of the genomic structure in the human 2q13 region. B. Yuan, P. Liu, K. Potamousis, D. Schwartz, J. R. Lupski.

3217F   Designing custom oligo FISH probes for the detection of chromosomal rearrangements in FFPE tissues. A. Bergstrom Lucas, M. Ruvolo, V. Kulkarni, S. Chen, B. Mullinax, J. Venneri, J. Barboza, S. Happe, S. Fulmer-Smentek, M. Srinivasan.

3218T   Rearrangement of MLL gene (11q23) in pediatric patients with acute leukemia at Hospital Civil de Guadalajara “Dr. Juan I. Menchaca”. H. J. Pimentel-Gutiérrez, L. Bobadilla-Morales, S. Gallegos-Castorena, B. Gonza#225;lez-Quezada, F. Sánchez-Zubieta, F. Gálvez-Gálvez, A. Corona-Rivera.

3219F   A derivative chromosome involving the q arms of chromosome 1 and 15 is associated with myeloproliferative neoplasm. P. Hord, C. McCoin, C. Curtis, S. Singh.

3220T   Effect of methamidophos on bone marrow cells of mice in vivo: Micronucleus assay. I. Aranha.

3221F   Mood disorders associate with a gene-disrupting chromosomal translocation spanning three generations. C. Ernst, F. Jollant, C. Hanscom, M. Stone, I. Blumenthal, G. Turecki, C. Cruceanu, M. Talkowski.

3222T   Effectiveness of comprehensive cytogenetic investigations in the diagnosis and genetic counseling of 8,131 patients. L. Martelli, J. Huber, S. A. Santos, L. A. F. Laureano, A. C. Laus, J. A. Squire, E. S. Ramos.

3223F   Characterizing the cytogenetic dose-response relationship at very low doses of gamma radiation using structural chromosomal aberrations. I. Seth, M. C. Joiner, J. D. Tucker.

3224T   Double Robertsonian translocation in pregnancy loss. S. Wenger.

3225F   Detection of interstitial 9q34.2-q34.3 deletion including the COL5A1 gene by array-CGH in a patient with classical Ehlers-Danlos syndrome and developmental delay. E. C. Beltran, D. W. Stockton, M. Hicks, M. Hankerd, D. Schloff, M. Kristofice, S. Ebrahim.

3226T   Use of cytogenetic tools to detect oxidative damage markers in diabetes mellitus and cardiomyopathy patients. R. Saraswathy, C. R. A. Moses, K. T. Babu.

3227F   Partial trisomy 21 in a patient without the Down syndrome phenotype. A. Umrigar, T. J. Chen, F. Tsien.

3228T   Age-related decrease of meiotic cohesins in human oocytes. M. Tsutsumi, R. Fujiwara, H. Nishizawa, H. Kogo, H. Inagaki, T. Ohye, T. Kato, H. Kurahashi.

3229F   Microcephaly and chromosomal abnormalities: Review of four years study. M. Kammoun, S. Dimassi, H. Hannachi, I. Bel hadj Hmida, N. Soyah, H. El Ghzel, A. Saad, M. Soumaya.

3230T   Constitutional 560.49 kb chromosome 2p24.3 duplication including the MYCN gene identified by oligonucleotide and SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral Wilms tumor. M. A. Micale, B. Embrey IV, J. K. Macknis, C. E. Harper, D. J. Aughton.

3231F   Incorporation of flanking probes reduces truncation losses for fluorescence in situ hybridization analysis of recurrent genomic deletions in tumor sections. M. Yoshimoto, O. Ludkovski, J. Good, R. J. Gooding, A. Boag, A. Evans, M. S. Tsao, P. Nuin, J. McGowan-Jordan, J. A. Squire.

3232T   High resolution genome profiling in Li-Fraumeni patients without germline mutations in TP53 gene. T. R. Basso, R. A. R. Villacis, M. Pinheiro, M. I. W. Achatz, S. R. Rogatto.

3233F   A patient with Angelman-like features due to deletion of chromosome 15q26.1q26.2 encompassing CHD2 and RGMA. S. Kantarci, J. A. Martinez.

3234T   De novo complex unbalanced chromosome rearrangement, a case of “constitutional chromothripsis”. M. Haddadin, M. ElNaggar, T. Sahoo, R. Owen, L. M. Bird, L. Ross, S. Wang, L. Hinman, F. Boyar.

3235F   Telomerase gene copy number is increased in IBD and PSC. A. Amiel, Y. Sulayev, H. Katz, A. Stein, M. Liberman, F. Konikof, I. Laish.

3236T   Structural anomalies of the Y chromosome versus sexual ambiguity or infertility. I. Ben Hadj Hmida, S. Dimassi, M. Kammoun, H. Kairi, H. Marmouche, A. Saad, S. Mougou-Zrelli.

3237F   Molecular diagnosis of deletions and duplications associated with intellectual disability and obesity. C. S. D'Angelo, M. F. M. Santos, C. A. Kim, C. M. Lourenço, C. P. Koiffmann.

3238T   Mechanisms of concurrent deletions and duplications at 1p36. M. Gajecka, J. A. Karolak, J. Shen, K. Wakui, C. Glotzbach, L. G. Shaffer.

3239F   Unexpected 10.6 Mb 19q13.33q13.43 duplication due to a de novo translocation: Contribution for phenotype-genotype correlation. F. T. Lima, G. M. G. Carvalheira, S. S. Takeno, M. M. Oliveira, V. F. A. Meloni, M. I. Melaragno.

3240T   Small supernumerary marker chromosome 17: Molecular characterisation of a new case and review of the literature. J. M. Turbitt, J. Murphy, R. McGowan, P. Batstone.

3241F   Wolf Hirschhorn syndrome with epibulbar dermoids in a patient with deletion 4p associated to Xp duplication. S. Bragagnolo, M. Colovati, R. S. Guilherme, M. I. Melaragno, A. B. Perez.

3242T   Goldenhar syndrome and oculoauriculovertebral spectrum: Clinical and cytogenomic study. M. E. S. Colovati, S. Bragagnolo, R. S. Guilherme, A. G. Dantas, A. B. Perez, M. I. Melaragno.

3243F   CGH-array characterization of an interstitial 7p deletion in two patients exhibiting features of GCPS, RSS and SCS syndromes. H. Hannachi, M. Kammoun, S. Dimassi, A. Labalme, D. Sanlaville, M. Gribaa, S. Mougou-ZERELLI, A. Saad.

3244T   Compound heterozygous microdeletion of chromosome 15q13.2q13.3 region in a child with hypotonia and global developmental delay. P. Prasun, L. Sivaswamy, L. Scussel, M. Hankerd, M. Kristofice, S. Ebrahim.

3245F   Deletion 12q12 - 12q13.11: Case report with unusual neurologic manifestations. A. M. Zarante, G. Giraldo, J. C. Prieto.

3246T   Molecular cytogenetic techniques in investigation of suspected microdeletion syndromes: An experience with 330 cases. A. Halder, M. Jain, I. Chaudhary, V. Mohan, P. Kumar.

3247F   Array CGH in pediatrics diagnosis versus karyotype: Experience with 189 cases. M. Pérez Sánchez, A. Mora., J. L. Barrionuevo., S. Roldán., A. R. González.

3248T   Linear measurement of the 2p telomere in μm may be associated with dementia status of people with Down syndrome. E. C. Jenkins, L. Ye, S. J. Krinsky-McHale, W. B. Zigman, N. Schupf, W. P. Silverman.

3249F   Copy number variations in patients with agenesis of corpus callosum. C. P. Oliveira, C. T. N. Medina, R. S. Heredia, R. O. A. Benício, M. T. O. Cardoso, S. F. Oliveira, A. Pic-Taylor, J. F. Mazzeu.

3250T   Sex chromosomal mosaicism in the gonads of patients with disorders of sex development. S. A. AbdelKader, A. K. Kamel, H. M. AbdelGhany, N. Desouky, M. K. Mekkawy, A. Hennawy, M. Makhluf, I. Mazen.

3251F   Directional genomic hybridization: An improved biomarker for radiation exposure. F. Ray, E. Robinson, M. Cornforth, J. Bedford, E. Goodwin, S. Bailey.

3252T   A novel approach to detecting miRNA in living cells. D. Weldon, A. Ko, G. Johnston, V. Koong.

3253F   Mosaic maternal UPD15 in a newborn with complex heart defect. D. Pickering, W. G. Sanger, R. E. Lutz, J. Carstens, M. Wiggins, B. J. Dave.

3254T   Segments of homozygosity and uniparental disomy identified by oligonucleotide SNP array: Experience from a reference laboratory. J. Wang, L. Ross, L. Mahon, R. Owen, M. Hemmat, B. Wang, M. El Naggar, A. Anguiano, F. Boyar, M. Haddadin, T. Sahoo.

3255F   The first case of mos 46,XX,+21,der(21;21)(q10;q10)[16]/ 45,X [14] with clinical evolution and parental karyotypes: 46,XY [20] and 46,XX [20]. M. Carvalho, E. Carvalho, M. Montenegro, K. Carvalho.

3256T   Characterization of expression profile of the CER1 gene and two regulatory elements in human mesenchymal progenitor and neural stem cells. X. Hauge, J. Sloan.

3257F   Four new patients with maternal UPD20: A phenotype of isolated growth retardation and feeding difficulties. E. J. Bhoj, S. Mulchandani, B. Thiel, E. Zackai, I. Krantz, N. Spinner, L. Conlin.


Cancer Genetics

 

3258W   Targetted amplicon sequencing of tongue cancer genome: Indian experience. R. Rawal, S. Bagtharia, K. C. Kothari, S. N. Shukla, A. K. Saxena.

3259T   The relationship between breast cancer and tetraspanin8 (TSPAN8) gene polymorphism. M. Acar, T. Yilmaz, M. Oznur, Z. Unal, E. Gunduz, M. Gunduz.

3260F   PPM1D mutations in circulating white blood cells and the risk of ovarian cancer. M. R. Akbari, P. Lepage, B. Rosen, J. McLaughlin, H. Risch, M. Minden, S. A. Narod.

3261W   Juvenile myelomonocytic leukemia in six months old boy with breast cancer and leukemia in his family history. M. Akouchekian.

3262T   Analyses of genome-wide linkage scan data among families with aggregation of breast and prostate cancer reveals evidence for linkage at 16q21-23. J. Beebe-Dimmer, E. Lange, K. Zuhlke, K. Cooney.

3263F   Diversity of inherited damaging mutations in all breast cancer genes in three series of breast cancer patients: young onset, triple-negative and those unselected for family history, age at diagnosis or hormone receptor status. G. Bernier, J. Mandell, T. Walsh, S. Casadei, M. Lee, E. Swisher, M. C. King.

3264W   Germline copy number variants as genetic risk factors for familial colorectal cancer type X. D. D. Buchanan, M. Clendenning, C. Rosty, M. D. Walsh, S. Parry, A. K. Win, J. L. Hopper, M. A. Jenkins, Colon Cancer Family Registry.

3265T   HLA-DPB1 polymorphisms and cervical squamous cell carcinoma risk. T. Chang, Y. Yang, Y. Lee, T. Chen, W. Lin, S. Chang.

3266F   Replication of cervical cancer susceptibility loci identified in genome-wide association study in a northern Swedish population. D. Chen, J. Hammer, D. Lindquist, U. Gyllensten.

3267W   Gene expression profiling of a single laser capture microdissected cell. S. Chu, M. Gauthier, K. Schmidt, S. Patel.

3268T   Loss in the function and homeostasis of the PDE family might inflict on the cAMP and cGMP signaling and lead to the development of prostate cancer. R. B. de Alexandre, A. Horvath, A. D. Manning, N. Hatipoglu, F. Kardauke, D. Carraro, F. Soares, M. Nesterova, C. Stratakis, F. R. Faucz.

3269F   Genetic variants in miR-499a, miR-938 and miR-1206 are associated with gastric cancer in Europeans from the EPIC-EURGAST study. Y. Espinosa-Parrilla, X. Muńoz, I. Torruella-Loran, C. Bonet, N. Garcia, E. Riboli, C. A. Gonzalez, N. Sala.

3270W   Bladder cancer susceptibility variants within CCNE1 are associated with mRNA expression of an alternative splicing form. Y. P. Fu, I. Kohaar, W. Tang, P. Porter-Gill, J. D. Figueroa, M. Garcia-Colsas, N. Chatterjee, N. Malats, M. Kogevinas, D. Baris, D. Albanes, A. Carrato, A. Tardón, C. Serra, R. García-Closas, J. Lloreta, A. Johnson, M. Schwenn, M. R. Karagas, A. Schned, W. R. Diver, S. M. Gapstur, E. Jacobs, J. Virtamo, F. X. Real, S. J. Chanock, J. F. Fraumeni, Jr., D. T. Silverman, N. Rothman, L. Prokunina-Olsson.

3271T   Few mutations in known high-risk gastric cancer susceptibility genes in Chinese gastric cancer kindreds. A. M. Goldstein, N. Hu, L.-J. He, X.-Y. Han, J. He, M. Rotunno, M. Malasky, H. Su, L. Wang, C. Wang, L. Burdett, B. Hicks, K. Jones, J. Boland, A. Hutchinson, M. Yeager, T. Ding, C. Giffen, M. A. Tucker, S. J. Chanock, M. Lee, P. R. Taylor.

3272F   Transcriptome analysis reveals novel gene coding variants and fusion transcripts in infant acute lymphoblastic leukemia. A. M. Gout, R. S. Kotecha, J. Ford, R. W. Francis, A. H. Beesley, M. N. Cruickshank, U. R. Kees.

3273W   Chemotherapy-induced peripheral neuropathy and cognitive dysfunction: Role of genetic variation. K. Holohan, Y. Wang, B. C. McDonald, S. K. Conroy, D. J. Smith, J. D. West, K. Nho, S. Kim, A. J. Saykin.

3274T   Occult hepatitis B and carcinogenic markers in chronic hepatitis C infection. R. M. T. Issa.

3275F   Fine mapping of the Finnish hereditary prostate cancer linked loci at 2q37 and 17q12-q22. V. H. Laitinen, T. Rantapero, D. Fischer, E. M. Vuorinen, T. L. J. Tammela, T. Wahlfors, J. Schleutker.

3276W   Novel EZR/ERBB4 fusion gene found in follicular variant of papillary thyroid cancer. S. Lee, H.-G. Jee, K. Lee, J.-S. Seo.

3277T   Sequence variants in BARD1 and breast cancer susceptibility: Results from the Breast Cancer Family Registry study. F. Lesueur, F. Damiola, N. Robinot, N. Forey, G. Durand, C. Voegele, M. P. Vallée, J. L. Hopper, M. C. Southey, I. L. Andrulis, E. M. John, S. V. Tavtigian, Breast Cancer Family Registry.

3278F   Field synopses of genetic variation in colorectal neoplasia. J. Little, H. Campbel, G. Gresham, Z. Montazeri, S. Sivakumaran, E. Theodoratou.

3279W   Genomic analysis of inherited breast cancer among Palestinian women. S. Lolas-Hamameh, D. Dweik, F. Fostira, T. Walsh, M. K. Lee, S. Casadei, M. C. King, E. Levy-Lahad, M. Kanaan.

3280T   Prostate cancer risk regions in 8q24 and 17q24 are differentially associated with somatic TMPRSS2:ERG fusion status. C. Maier, A. E. Rinckleb, M. Luedeke, J. L. Stanford, J. Schleutker, R. A. Eeles, M. Teixeira, S. Weikert, J. Hoegel, L. M. FitzGerald, T. Wahlfors, T. Visakorpi, K. A. Leinonen, T. L. J. Tammela, C. S. Cooper, Z. Kote-Jarai, S. Edwards, P. Paulo, C. Jéronimo, H. Krause, W. Vogel, S. Benlloch, A. Amin Al Olama, D. F. Easton, PRACTICAL Consortium.

3281F   Identification of susceptibility loci in hereditary prostate cancer families using copy number variation and linkage analysis. D. Mandal, E. Ledet, J. E. Bailey-Wilson, M. Li.

3282W   A systems biology approach reveals novel mechanisms associated with cancer metastasis in EMT-MET cell reprogramming. R. C. McEachin, H. Roca.

3283T   Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer. K. Miura, S. Abe, A. Kinoshita, H. Mishima, S. Miura, K. I. Yoshiura, H. Masuzaki.

3284F   Effects of waterpipe smoking on gene expression. Z. Montazeri, H. El katerji, J. Gomes, J. Little.

3285W   Upregulation of TRF1 and TRF2 (telomere repeat binding factors) protein contributes to telomere shortening in renal cell carcinoma. D. Pal, U. Sharma, R. Khajuria, S. K. Singh, N. Kakkar, R. Prasad.

3286T   Screening of XRCC2 in breast cancer families. L. M. Pelttari, S. Vilske, C. Blomqvist, K. Aittomäki, H. Nevanlinna.

3287F   Large-scale resequencing analysis of six melanoma susceptibility genes in the European Prospective Investigation into Cancer and Nutrition Cohort. M. Pertesi, N. Forey, J. Oliver, N. Robinot, C. Voegele, EPIC Skin Cancer Working Group, F. Le Calvez-Kelm, J. McKay, F. Lesueur.

3288W   K939Q polymorphism in the XPC gene may not affect the risk of bladder cancer: A case-control study and a meta-analysis. M. Sankhwar, S. N. Sankhwar, N. Gupta, A. Abhishek, S. Rajender.

3289T   COMPLEXO: Identifying the missing heritability of breast cancer via next-generation collaboration. M. C. Southey, D. E. Goldgar, COMPLEXO.

3290F   Common genetic polymorphisms in the coagulation factors 5 and 10 genes are associated with risk of breast cancer and correlate with increased coagulation activity. M. Tinholt, M. K. Viken, S. Nyberg, A. L. Břrresen-Dale, V. Kristensen, K. K. Sahlberg, R. Kĺresen, E. Schlichting, O. Garred, G. Skretting, A. E. Dahm, B. A. Lie, P. M. Sandset, N. Iversen.

3291W   Estrogen and progesterone receptor gene polymorphisms as risk factors for cervix cancer in South Indian population. P. Upendram, V. Kiran Kumar, S. Poornima, A. Shah, Q. Hasan.

3292T   Fine-mapping of genome-wide association study-identified risk loci for colorectal cancer. H. Wang, C. A. Haiman, T. Burnett, B. K. Fortini, L. K. Kolonel, B. E. Henderson, L. B. Signorello, W. J. Blot, T. O. Keku, S. I. Berndt, P. A. Newcomb, M. Pande, C. I. Amos, D. W. West, G. Casey, R. S. Sandler, R. Haile, D. O. Stram, L. Le Marchand.

3293F   Zinc transporter gene variants and susceptibility to urological cancers. L. Wu, K. Rabe, A. Parker, G. Petersen.

3294W   The prevalence of the HOXB13 G84E prostate cancer risk allele in men treated with radical prostatectomy. K. A. Zuhlke, J. Beebe-Dimmer, C. Yee, A. M. Johnson, P. C. Walsh, S. D. Isaacs, W. B. Isaacs, K. A. Cooney.

3295T   Prevalence of germline mutation p.R337H in the TP53 gene in families with multiple cases of cancer. K. C. Andrade, K. M. Santiago, A. Nobrega, F. P. Fortes, M. I. Achatz.

3296F   Is IGSF1 involved in human pituitary tumor formation? F. R. Faucz, A. D. Horvath, P. Xekouki, E. Szarek, G. Evgenia, A. D. Manning, I. Levy, E. Saloustros, R. B. de Alexandre, M. Nesterova, C. A. Stratakis.

3297W   Mutational landscape of candidate genes in familial prostate cancer. . A. Johnson, K. Zuhlke, C. Plotts, J. Douglas, S. Thibodeau, K. Cooney.

3298T   Development of a next-generation sequencing panel to assess hereditary cancer risk that includes clinical diagnostic analysis of the BRCA1 and BRCA2 genes. B. Roa, K. Bowles, S. Bhatnagar, N. Gutin, A. Murray, B. Wardell, M. Bastian, J. Mitchell, J. Chen, T. Tran, D. Williams, J. Potter, S. Jammulapati, M. Perry, B. Morris, K. Timms.

3299F   Development of 3C-based target sequencing technology for candidate gene discovery in prostate cancer. M. J. Du, T. Z. Yuan, R. L. Dittmar, X. Y. Huang, S. N. Thibodeau, L. Wang.

3300W   From GWAS to therapy: Fatty acid synthase in uterine leiomyomata. Z. Ordulu, M. Hayden, S. Eggert, B. J. Quade, C. C. Morton.

3301T   Coding variants at the hexa-allelic amino acid 13 of HLA-DRB1 explain independent SNP associations with follicular lymphoma risk. J. N. Foo, K. E. Smedby, N. K. Akers, M. Berglund, I. D. Irwan, X. Jia, Y. Li, D. E. K. Tan, J. X. Bei, J. Chang, L. Conde, H. Darabi, P. M. Bracci, M. Melbye, H. O. Adami, B. Glimelius, D. Lin, W. H. Jia, A. L. H. Seow, C. C. Khor, H. Hjalgrim, L. Padyukov, K. Humphreys, G. Enblad, C. F. Skibola, P. I. W. de Bakker, J. Liu.

3302F   Expression-based classification of melanoma cell sensitivity to temozolomide. T. Zhang, M. Xu, C. Sereduk, D. Chow, J. Trent, H. Yin, K. Brown.

3303W   Mining of TCGA data links AGR3 dysregulation to surfactant homeostasis in lung cancer. A. Umesh, J. Delaney, J. Shima, J. Park, R. Wisotzkey, M. Shekar, I. Kupershmidt.

3304T   Downregulation of SIDT1 gene in leukemia. J. Mazzeu, S. G. Magalhăes, L. H. Sakamoto, R. Camargo, M. B. Daldegan, B. D. Lima.

3305F   Genetic polymorphisms in the 9p21 region associated with multiple cancers. W. Li, R. Pfeiffer, F. Gu, Z. Wang, M. Yeager, X. Deng, L. Amundadottir, J. Luo, S. Chanock, N. Chatterjee, M. Tucker, A. Goldstein, X. Yang.

3306W   Cryptic mutations in introns and exons leading to splice alterations in breast cancer genes. S. Casadei, T. Walsh, C. H. Spurrel, A. M. Thornton, J. B. Mandell, S. M. Stray, M. K. Lee, M. C. King.

3307T   MEIS1 silencing influences the expression of cancer/testis antigen SSX2 in myeloid leukemia cell line K562. J. Torres-Flores, A. Aguilar-Lemarroy, A. Bravo-Cuellar, L. F. Jave-Suarez.

3308F   Monoallelic epigenetic silencing of the Apc tumor suppressor gene and parent of origin effects in a rat model of colon cancer. J. Amos-Landgraf, A. Irving, M. Ford, W. Dove.

3309W   Evaluation of a cancer gene sequencing panel in a hereditary risk assessment clinic. Y. Kobayashi, A. W. Kurian, E. Hare, M. A. Mills, K. E. Kingham, A. S. Whittemore, V. McGuire, G. Gong, U. Ladabaum, M. Cargill, J. M. Ford.

3310T   Novel integrative genomics approach to biomarker discovery in prostate cancer. C. Hicks, L. Miele, T. Koganti, J. Sitthi-Amorn, S. Vijayakumar.

3311F   Exomic sequencing to identify germline variants in familial melanoma. H. N. Shabbir, M. T. Landi.

3312W   Molecular classification of myeloproliferative neoplasms patients in the State of Qatar according to World Health Organization 2008 criteria. N. Al-Dewik, Q. Fernandes, Y. K. Naidu, N. Bonnin, E. Verger, B. Cassinat, J. J. Kiladjian, H. El Ayoubi, M. Yassin.

3313T   Novel association between tanning addiction and PTCHD2 alleles using a whole exome variant array. A. E. Bale, A. T. Dewan, L. M. Ferrucci, J. Gelernter, D. J. Leffell, S. T. Mayne, J. Stapleton, B. Cartmel.

3314F   The PROFILE Feasibility Study: Genetic prostate cancer risk stratification for targeted screening. R. Eeles, E. Bancroft, N. Taylor, T. Dadaev, E. Page, D. Keating, N. Borley, N. Desouza, C. Goh, E. Saunders, A. Lee, D. Easton, A. Antoniou, Z. Kote-Jarai, E. Castro.

3315W   Association between colorectal cancer risk and variants in the human exome. T. A. Harrison, M. Lemire, F. R. Schumacher, P. L. Auer, C. Qu, S. I. Berndt, S. Bézieau, H. Brenner, P. T. Campbell, A. T. Chan, J. Chang-Claude, D. V. Conti, D. Duggan, S. Gallinger, R. C. Green, S. B. Gruber, E. Jacobs, S. Jiao, L. Le Marchand, L. Li, P. A. Newcomb, R. E. Schoen, D. Seminara, M. L. Slattery, J. D. Potter, E. White, U. Peters, G. Casey, L. Hsu, T. J. Hudson.

3316T   Pathway analysis shows different leukemia subtypes are involved with distinct biological mechanisms. L.-I. Hsu, F. B. Briggs, X. R. Shao, A. P. Chokkalingam, K. M. Walsh, C. Metayer, L. F. Barcellos, P. Buffler.

3317F   A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett’s esophagus. D. M. Levine, W. E. Ek, R. Fitzgerald, S. MacGregor, D. C. Whiteman, T. L. Vaughan.

3318W   Gene expression networks for non-small cell lung cancer major subtypes. L. Liang, M. B. Freidin, E. Lim, A. G. Nicholson, S. Popat, M. F. Moffatt, W. O. Cookson.

3319T   HPV and cervical cancer in Guatemala and Venezuela-low-cost screening with NextGen sequencing. H. Lou, G. Villagran, U. Odey, J. Sawitzke, D. Wells, J. Troyer, M. Dyba, A. Ruch, R. Orozco, V. Arguata, E. Gharzouzi, E. Alvirez, M. Dean.

3320F   Individualized prostate cancer risk prediction using a polygenic risk score. R. Szulkin, T. Whitington, F. Wiklund, PRACTICAL Consortium.

3321W   BRCA1 and BRCA2 (BRCA) gene analyses on an economic platform: A global consortium to demonstrate the feasibility of a shared, dedicated workflow for non-optical next-generation sequencing with a custom BRCA AmpliSeq kit on the Ion Torrent PGM™. J. Weitzel, J. Costa, A. Mensenkamp, A. Ekici, J. Herzog, M. Ligtenberg, H. Feilotter, P. Park, A. Hidalgo-Miranda, N. Williams, R. Ellis, J. Carlos-Machado.

3322T   Inherited predisposition to cancer in Mexican women. C. M. Laukaitis, A. Chaudhury, C. Mauss, T. Walsh, P. A. Thompson, A. M. Lopez, A. Daneri Navarro, M.-C. King.

3323F   Association of genetic variants of cancer stem cell genes in gallbladder cancer susceptibility in North Indian population. K. Sharma, B. Mittal, A. Yadav, A. Kumar, S. Misra, V. Kumar.

3324W   Semiconductor-based next-gen sequencing reveals cancer risk-associated genetic variations in Chiba J-MICC cohort study. J. Katayama, Y. Hayashi, H. Mikami, H. Kageyama, M. Ohira, S. Yokoi, H. Nagase.

3325T   A support vector machine classifier for estrogen receptor positive and estrogen receptor negative early-onset breast cancer. R. Upstill-Goddard, D. Eccles, S. Rafiq, W. Tapper, J. Fliege, A. Collins.

3326F   Inversion-mediated gene fusions involving NAB2-STAT6 in malignant meningioma. C. Ling, F. Gao, L. Shi, G. Zada, W. J. Mack, K. Wang.

3327W   Copy number gains on chromosome 21 contribute to risk of acute lymphoblastic leukemia in non-Down syndrome children. A. J. de Smith, A. M. Yiorkas, R. G. Walters, K. M. Walsh, C. Metayer, L. F. Barcellos, P. A. Buffler, A. I. Blakemore, A. P. Chokkalingam, J. L. Wiemels.

3328T   A case of hyperdiploidy in CLL/SLL: A rare cytogenetic event associated with poor prognosis. M. DeNicola, S. Pullakat, S. Yea, P. Delgado, L. Yang, N. Rao, C. A. Tirado.

3329F   The cytogenetic landscape and downstream consequences in 16,172 cancer samples. L. Franke, R. S. N. Fehrmann, J. Karjalainen, L. de Vries, M. van Vugt, C. Wijmenga.

3330W   Genomic copy number signatures uncovered genetically distinct group which is different from adenocarcinoma and squamous cell carcinoma of the lung cancer. E. Lee, J. Lee, H. Kim, B. Shin, J. Kim, A. Kim, B. Kim.

3331T   The link between the losses of TP53 and ETV6 and del(5q) and/or -7/del(7q) in the progression of myelodysplastic syndrome and acute myeloid leukemia. J. Lee, R. Zhang, Y. Kim, X. Wang, Y. Li, S. Li.

3332F   Targeted genomic DNA and cDNA next-generation sequencing identifies a high frequency of kinase gene fusions in Spitz tumors Involving ROS1, ALK, RET, NTRK1, and BRAF. K. Wang, J. He, T. Wiesner, G. Otto, R. Yelensky, M. F. Berger, R. Esteve-Puig, D. Lipson, K. Brennan, V. A. Miller, M. T. Cronin, B. C. Bastian, P. J. Stephens.

3333W   A rare case of de novo AML with basophilic differentiation and abnormal cytogenetics with tetraploidy and structural abnormalities in a 50-year-old male. A. Yenamandra, F. C. Wheeler, D. Zalepa, A. Gardner, M. Guanchez-Lopez, M. A. Thompson, J. Douds, S. Mohan, A. Shaver.

3334T   Complex karyotype in a patient with AML-M1. L. Bobadilla-Morales, C. Ortega-de la Torre, H. J. Pimentel-Gutiérrez, C. Barba-Barba, M. C. Almodóvar-Cuevas, G. Serafín-Saucedo, G. Macías-Salcedo, M. E. Velázquez-RiverA, A. Márquez-Mora, S. Gallegos-Castorena, F. Sánchez-Zubieta, A. Corona-Rivera.

3335F   Single chromosome contribution to karyotypic evolution in tumor formation and metastases. J. Brown, B. Flynn, C. Obergfell, M. Longo, M. O'Neill, R. O'Neill, Peromyscus Genetic Stock Center.

3336W   The impact of microarray in diagnosing pediatric acute lymphocytic leukemia. C. M. Higgins, D. L. Pickering, M. L. Wiggins, W. G. Sanger, B. J. Dave.

3337T   Molecular characterization of der(1)t(1;19) in a patient with myelodysplastic syndrome. J. Kim, J. Choi, J. Choi, Y. Kim, K. Lee.

3338F   Characterization of uterine leiomyomas by whole-genome sequencing. M. Mehine, E. Kaasinen, N. Mäkinen, R. Katainen, K. Kämpjärvi, E. Pitkänen, H. Heinonen, R. Bützow, O. Kilpivaara, A. Kousmanen, H. Ristolainen, M. Gentile, J. Sjöberg, P. Vahteristo, L. Aaltonen.

3339W   Fluorescence in situ hybridization (FISH) on abnormal metaphases helps unmask the location of hidden genes/genomic segments in cases with abnormal karyotypes and abnormal FISH panels. N. Mitter.

3340T   SNP chromosomal microarray analysis with DNA extracted from Carnoy’s fixed cell pellets of myelodysplastic syndrome/acute myeloid leukemia. N. Rao, D. Cherukuri, I. Amarillo, F. Quintero-Rivera.

3341F   Genomic aberrations in myeloid sarcoma: Characterization of formalin-fixed paraffin-embedded samples by whole-genome SNP arrays and next-generation sequencing. M. Sukhanova, K. M. Mirza, Z. Li, F. Stolzel, K. Onel, M. M. Sasaki, P. Reddy, L. Joseph, G. Raca.

3342W   A case of pediatric acute lymphoblastic leukemia presenting with a (9;12) translocation involving JAK2 and rearrangement of MLL at 11q23 with an apparent insertion at 6q27. C. Tirado, M. DeNicola, D. Rao, P. Delgado, A. Jarrin, L. Yang, N. Rao.

3343T   Utility of CD-138 negative fraction for chromosome analysis in plasma cell dyscrasias: A novel approach. G. Velagaleti, G. Mohamed, W. Ehman Jr., C. Mendiola, V. Noronha, V. Ortega.

3344F   A unique rearrangement of PDGFRA and ETV6 in a three-way translocation t(4;12;6) in a patient with acute myeloid leukemia progressed from chronic myelomonocytic leukemia. N. M. Guruju, R. García, K. Wison, S. Monaghan, P. Koduru.

3345W   Detection of the EML4-ALK fusion gene in non-small cell lung cancer: Our FISH service to date. C. Durajczyk, D. Massie, K. Kerr, D. Stevenson.

3346T   Identification of novel fusion transcripts in ALL patients. M. Walter, C. Schroeder, C. Kyzirakos, P. Lang, M. Sturm, P. Bauer, O. Riess, M. Bonin.

3347F   Whole-genome sequencing of Li-Fraumeni families reveals heterogeneous mutational signatures. K. Bhutani, D. Quarless, Q. Peng, K. Standish, E. Scott, S. Head, S. Williams, T. Kunicki, P. B. Hedlund, D. Nugent, N. J. Schork.

3348W   A role for telomere length in the genetic etiology of hematological malignancies. N. B. Blackburn, J. C. Charlesworth, J. R. Marthick, T. D. Dyer, T. A. Thornton, R. J. Thomson, E. M. Tegg, K. A. Marsden, V. Srikanth, J. Blangero, R. M. Lowenthal, S. J. Foote, J. L. Dickinson.

3349T   Identification of novel mechanisms of drug resistance in BRCA1-deficient cancer cells by exome and RNA sequencing. K. K. Dhillon, T. Walsh, S. Gulsuner, T. Taniguchi.

3350F   Rhabdoid tumour in a 13 year old with Ring 22: A special case of the two-hit hypothesis. H. Druker, L. Zahavich, D. Malkin, S. Meyn.

3351W   ATM and MDC1 independently modulate resection of DNA double-strand breaks for homologous recombination repair in human cells. P. S. Bradshaw, M. Komosa, M. S. Meyn.

3352T   Identification of an extragenic mutation of BUB1B gene for PCS (MVA) syndrome and functional analysis using TAL effector nucleases. T. Miyamoto, H. Ochiai, A. Kanai, K. Hosoba, S. Kume, T. Sakuma, T. Kajii, T. Yamamoto, S. Matsuura.

3353F   Immunohistochemical expression of Afadin-6 in sporadic neurofibromas. M. Sulaiman, A. Dodson, T. Helliwell, C. Kudi, I. Hussaini, S. Ojo, J. Hambolu.

3354W   Fragile site FS2 instability stimulates mitotic recombination in the yeast Saccharomyces cerevisiae. K. Kapellas, S. Miller, D. Rosen, E. Younkin, A. Casper.

3355T   SirT7 promotes genomic stability and adequate DNA damage response. B. Vazquez, J. Thackray, S. Bunting, J. A. Tischfield, L. Serrano.

3356F   The Fanconi anemia pathway regulates ALT telomere maintenance in human cells. H. Root, M. Komosa, A. Larsen, D. P. Bazett-Jones, M. S. Meyn.

3357W   Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers. S. Hettmer, N. Archer, G. Somers, A. Novokmet, A. Wagers, L. Diller, C. Rodriguez-Galindo, L. Teot, D. Malkin.

3358T   Polymorphisms of MTHFR, prothrombin and factor V (Leiden) genes in children with acute lymphoblastic leukemia. E. Maly, O. Zajac-Spychala, J. Kedzierska, J. Nowak, D. Januszkiewicz-Lewandowska.

3359F   Offspring of couples who both survived cancer. J. J. Mulvihill, J. F. Winther, L. Madanat-Harjuoja, P. M. Lähteenmäki, J. D. Boice, Jr.

3360W   Pleuropulmonary blastoma (PPB) type and distant metastases are significantly associated with disease-free survival: A report from the International PPB Registry. D. R. Stewart, P. S. Rosenberg, G. M. Williams, J. R. Priest, KA. P. Schultz, A. Harris, L. Doros, D. A. Hill, L. P. Dehner, Y. H. Messinger.

3361T   Improved detection of FLCN mutations in patients with Birt-Hogg-Dubé syndrome. J. R. Toro, B. Friedman, S. Bale.

3362F   Gene expression in P53 and Bcl-2 in biopsy samples of ulcerative colitis and colon cancer in Iraqi patients. Z. Jaafar.

3363W   Integrative analysis of acute myeloid leukemia with genetic, epigenetic, and transcriptional data. S. Li, F. Garrett-Bakelman, J. Patel, T. Hricik, M. Guzman, M. Carroll, A. Brown, R. D'Andrea, R. Levine, A. Melnick, C. Mason.

3364T   Tissue-of-origin chromatin organization shapes the mutational landscape of cancer. P. Polak, R. Karlic, A. Koren, B. Thurman, R. Sandstrom, A. Reynolds, E. Rynes, J. Stamatoyannopoulos, S. Sunyaev.

3365F   Association of eNOS 4 a/b polymorphism in Mexican patients with breast cancer. R. Ramírez, M. P. Gallegos, A. Ramos, L. Gómez'Flores, D. Carrillo, O. Soto, I. Gutíerrez, I. Delgado, A. M. Puebla, L. E. Figuera, R. P. Mariaud, G. M. Zúńiga.

3366W   Analysis of methylation pattern of candidates genes regulated by TDG in patients with germline mutations in TP53 gene. F. Fortes, H. Kuasne, F. Marchi, S. Rogatto, M. Achatz.

3367T   Functional characterization of mutations in the spliceosomal component SF3B1 in uveal melanoma. A. Bowcock, M. Sentmanat, H. N. Anbunathan, E. D. O. Roberson, J. W. Harbour.

3368F   Role of rs9620497 with CRYBB2 expression levels in African American women with invasive breast cancer. S. M. Brown, C. D. Shriver, R. E. Ellsworth.

3369W   Functional characterization of melanoma-associated common variants in PARP1. J. Choi, M. M. Makowski, W. J. Kim, T. Zhang, M. H. Law, M. Xu, M. Kovacs, H. Parikh, L. G. Aoude, M. Gartside, H. H. Yin, J. M. Trent, S. Macgregor, N. K. Hayward, K. M. Brown.

3370T   Genetic polymorphisms in DNA base excision repair gene XRCC1 and the risk of head and neck cancer. K. Chukka, Z. Vishnuvardhan, U. Radhakrishna.

3371F   Characterization of immunogenetics variants of the CCR2, CCR5, and HLA-G genes as potential targets for diagnosis, prognosis and treatment in women with sporadic and familial breast cancer. C. de Oliveira Giongo, A. P. Carneiro Brandalize, P. Ashton Prolla, J. A. Bogo Chies.

3372W   A common germline deletion of APOBEC3B alters the somatic mutation profile in breast cancer. R. J. Delahanty, Y. Zhang, Y. Guo, Y. Shyr, W. Zheng, J. Long.

3373T   Functional variants at the 5q11 breast cancer risk locus regulate MAP3K1 expression through long-range regulatory elements. S. L. Edwards, D. M. Glubb, M. J. Maranian, K. B. Meyer, K. A. Pooley, K. Michailidou, K. M. Hillman, S. Kaufmann, G. Chenevix-Trench, D. F. Easton, J. D. French, A. M. Dunning, Breast Cancer Association Consortium.

3374F   Transcriptional regulation and prostate cancer risk loci. R. J. Klein, J. Hayes, X. Xu, J. Farber, R.-M. Väänänen, P. Taimen, J. Vijai, H. Lilja, K. Pettersson, K. Offit.

3375W   Drug-sensitivity assay for sequence variants verification. K. Tao, S. Tavtigian.

3376T   SNP variation in microRNAs targeting the tumor suppressor gene PTEN. V. A. Ware, A. Jones, C. LaViolette, C. Corcoran, A. Maletz, J. A. Wilder.

3377F   Missense mutation of the last nucleotide of exon 1, CDH1 c.48 G>C (Q16H), contributes to cancer predisposition through disruption of normal splicing and generation of missense mutation. L. Zhang, A. Xiao, J. Ruggeri, R. Bacares, S. Melo, J. Figueiredo, J. Simőes-Correia, R. Seruca, M. Shah.

3378W   The K-type human endogenous retroviral element encodes fusogenic activity in melanoma cells. J. Dong, G. Huang, Z. Li, X. Wan, Y. Wang.

3379T   Detection of P16, cyclin D1 and Bcl-2 expression in pancreatic neoplasms. S. Lai, X. Zhou.

3380F   Exome-based method to determine cancer tissue of origin. K. Robasky, E. Aronesty, W. D. Jones.

3381W   A novel statistic method for drug response prediction with big RNA-seq data. M. Xiong, L. Ma, M. Chen, S. Guo.

3382T   Leukemia relapse in donor cells ten years after allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia. G. Calabrese, L. Militti, R. DiGianfilippo, M. Alfonsi, P. Guanciali-Franchi, D. Fantasia, P. Bavaro, P. DiBartolomeo, G. Palka.

3383F   Photodynamic therapy effect in EGF pathway gene expression in glioblastoma as a biological model. L. B. de Paula, F. L. Primo, N. T. A. Peres, N. M. Martinez-Rossi, A. Rossi, A. C. Tedesco, Supported by CNPQ, FAPESP, FAEPA.

3384W   Elevated expression of maspin mRNA as a predictor of survival for stage II gallbladder cancer. K. Baghel, H. R. Kazmi, S. Raj, A. Chandra, R. N. Srivastava.

3385T   Prognostic signature in papillary thyroid carcinoma patients that undergone total thyroid ablation. M. C. Barros Filho, F. A. Marchi, C. A. Pinto, S. R. Rogatto, L. P. Kowalski.

3386F   LOX-1, a novel metabolic target in human breast and colon cancer. M. Biancolella, M. J. Zonetti, T. Fisco, P. Mazzarelli, F. Sangiuolo, L. Saieva, M. Murdocca, G. Novelli, S. Pucci.

3387W   Increased frequencies of GSTM1 and GSTT1 null genotypes in Indian patients with leukemia. S. Caplash, S. Kaur, R. Arora.

3388T   Two different BRCA2 mutations found in a multigenerational family with a history of breast, prostate, and lung cancers. D. Caporale, E. Swenson.

3389F   Negotiating a minefield: Which variants to return in a large prospective whole exome sequencing project? A. Church, E. Van Allen, E. Hiller, I. Rainville, H. Rana, D. Treacy, K. Karalis, F. Huang, M. Giannakis, F. Wilson, E. Stover, J. Bohkari, L. Sholl, N. Lindeman, J. Garber, N. Wagle, L. Garraway.

3390W   Analysis of BRAF mutations (BRAF V600E) in gliomas. L. Da Silva, P. Vidigal, N. Binda, P. Couto, L. Bastos-Rodrigues, L. De Marcp.

3391T   MtDNA copy number alteration and association with clinicopathological features in breast cancer patient. M. Ghaffarpour, M. Houshmand.

3392F   TNFA-308 G>A is associated with HER-2/neu expression in women with breast cancer. L. Gomez-Flores-Ramos, A. Escoto-De Dios, A. Ramos-Silva, R. Ramirez-Patińo, I. Gutierrez-Hurtado, M. P. Gallegos-Arreola.

3393W   The anti-cancer activity of propolis in colorectal cancer. M. Gunduz, G. Nas, M. Acar, O. F. Hatipoglu, B. Yilmaz, G. Kaya, E. Gunduz.

3394T   Identification of complete hydatidiform mole pregnancy-associated microRNAs in plasma. Y. Hasegawa, K. Miura, A. Higashijima, S. Miura, J. Tsukamoto, S. Abe, A. Kinoshita, H. Mishima, K. Yoshiura, H. Masuzaki.

3395F   Eukaryotic translation initiation factor 4E (eIF4E) expression is associated with breast cancer tumor phenotype and predicts survival after anthracycline chemotherapy treatment. T. Heikkinen, T. Korpela, R. Fagerholm, S. Khan, K. Aittomäki, P. Heikkilä, C. Blomqvist, O. Carpén, H. Nevanlinna.

3396W   Personalized genomics of metformin therapy for improved cancer survival. C. C. Iverson, H. Xu, Q. Chen, A. Shah, Q. Dai, J. Warner, N. B. Peterson, L. Olson, D. C. Crawford, D. M. Roden, J. C. Denny, M. C. Aldrich.

3397T   Comparison of mRNA expression profiles in familial and sporadic breast cancers in Finnish population. S. Khan, P. Heikkilä, K. Aittomäki, C. Blomqvist, H. Nevanlinna.

3398F   Discovering latent cancer characteristics predictive of drug sensitivity. D. A. Knowles, A. Battle, D. Koller.

3399W   Prognostic significance of syndecan-1 expression in colorectal carcinoma. S. H. Lee, E. J. Choi, J. A. Yoon, E. S. Jung, S. Y. Kim.

3400T   Mutations and copy number changes identified in primary brain tumors using complementary analyses and formalin-fixed, paraffin-embedded tissues. A. Ligon, B. Alexander, S. Ramkissoon, P. Wen, D. Reardon, E. Lee, M. Rinne, A. Norden, L. Nayak, S. Nuland, L. Doherty, D. Lafrankie, L. Brown, N. Arvold, S. Santagata, I. Dunn, N. Lindeman, L. MacConaill, B. Rollins, R. Beroukhim, K. Ligon.

3401F   A leukemic stem cell score associated with patient prognosis and tumor histopathology in ovarian cancer. B. A. Logsdon, S. L. Battle, M. H. Rendi, R. D. Hawkins, S.-I. Lee.

3402W   Coupled use of family-based exome sequencing and TCGA germline data analysis to identify novel breast and ovarian cancer susceptibility genes. J. A. Martignetti, P. Dottino, M. Babcock, L. Jara, K. Moysich, L. Sucheston, S. Lele, K. Odunsi, S. Sanga.

3403T   KiSS1 suppressor metastasis gene rs12998 and rs5780218 polymorphisms in Mexican patients with breast cancer. M. C. Moran Moguel, S. E. Flores Martínez, L. A. Juarez Aguilar, J. Sanchez Corona, I. P. Davalos Rodriguez, R. C. Rosales Gomez, S. A. Gutierrez Rubio, M. I. Torres Moran, E. G. Cruz Quevedo.

3404F   Initial viral load in cases of single human papillomavirus 16 or 52 persistent infection is associated with progression of later cytopathological findings in the uterine cervix. K. Ohashi, K. Miura, S. Abe, A. Kinoshita, S. Miura, D. Hamaguchi, K. Yoshiura, H. Masuzaki.

3405W   Conventional and molecular cytogenetic techniques in comparison with mRNA and DNA-based quantitative real-time PCR to monitor minimal residual disease in chronic myeloid leukemia. I. S. Pagani, C. Pirrone, D. Pigni, O. Spinelli, C. Boroni, T. Intermesoli, U. Giussani, F. Pasquali, F. Lo Curto, A. Lanfranchi, F. Porta, A. Rambaldi, G. Porta.

3406T   ALK gene copy number gain in a series of 350 NSCLC: A single institution experience. L. Pecciarini, A. Talarico, G. Grassini, E. Dal Cin, S. Foti, C. Lazzari, V. Gregorc, M. G. Cangi, C. Doglioni.

3407F   Shortened telomere length and survival in bladder cancer patients. A. Russo, F. Modica, S. Guarrera, G. Fiorito, A. Allione, B. Pardini, R. Critelli, F. Ricceri, A. Bosio, G. Casetta, G. Cucchiarale, P. Destefanis, P. Gontero, L. Rolle, A. Zitella, D. Fontana, P. Vineis, C. Sacerdote, G. Matullo.

3408W   Generating hypotheses for targeted therapies with cancer in silico drug discovery tools. F. A. San Lucas, J. Fowler, S. Kopetz, E. Vilar, P. Scheet.

3409T   Decreased gene expression and localization of alkaline phosphatase (L/B/K) to the microvillus membrane of renal cells in renal cell carcinoma. U. Sharma, D. Pal, S. K. Singh, N. Kakkar, A. K. Mandal, R. Prasad.

3410F   Hif1a and PHD gene expression levels in CML patients. A. Toylu, O. Altiok Clark, O. Salim, A. Timuragaoglu, M. Okur, OK. Yucel, M. Ulubahsi, K. Eker Guler, N. Sayin Ekinci, I. Karadogan, L. Undar.

3411W   Applicability of high-resolution multicapillary electrophoresis for molecular characterization of immune gene rearrangement profiles in acute lymphoblastic leukemia. H. Trautmann, M. Kozulic, A.-W. Kruse, M. Kneba, M. Brüggemann.

3412T   Investigation of resveratrol/AT-101’s molecular targets of apoptotic effect to the hormone-sensitive and hormone-nonsensitive prostate cancer cell lines. Y. Yukselten, N. Aktepe, A. Kisim, H. Atmaca, B. Karaca.

3413F   Cytogenetic and FISH monitoring of t(16;21)(p11.2;q22) FUS-ERG fusion gene in an AML NOS patient. L. Militti, D. Fantasia, A. DiTecco, D. Onofrillo, A. Spadano, G. Calabrese, G. Palka.

3414W   Intrafocal heterogeneity of gene rearrangements in prostate cancer: Implications to genomic targeting therapeutics. I. Tereshchenko, H. Zhong, U. Santanam, W. Petrosky, N. Kane-Goldsmith, J. A. Tischfield, R. S. DiPaola.

3415T   Trisomy of chromosome 8 in children with haematological malignancies. D. Januszkiewicz-Lewandowska, O. Zajac-Spychala, E. Maly, J. Nowak.

3416F   Joint effect of multiple common SNPs predicts melanoma susceptibility in place of or beyond traditional risk factors. S. Fang, J. Han, M. Zhang, L. Wang, Q. Wei, C. Amos, J. Lee.

3417W   Radiogenomics: Using genetics to identify cancer patients at risk for development of adverse effects following radiotherapy. S. L. Kerns, H. Ostrer, B. S. Rosenstein, Radiogenomics Consortium.

3418T   RLIP76 expression levels in CML patients. O. Altiok Clark, A. Toylu, O. Salim, A. Timuragaoglu, M. Okur, OK. Yucel, N. Sayin Ekinci, M. Ulubahsi, K. Eker Guler, I. Karadogan, L. Undar.

3419F   Circulating microRNAs in acute lymphoblastic leukemia during chemotherapy treatment. T. M. Marques, L. H. Sakamoto, C. P. C. Gomes, G. P. Oliveira, Jr., G. R. Fernandes, R. W. Pereira.

3420W   microRNA expression profiling in metastatic cutaneous squamous cell carcinoma. A. E. Toland, L. E. Skeeles, S. B. Peters, T. Teknos, T. Olencki, D. C. Allain.

3421T   Prognostic significance of K-ras codon 12 mutation with resected gall bladder cancer. H. R. Kazmi, A. Chandra, D. Parmar, N. M.

3422F   Genetic polymorphisms in the apoptotic-associated genes Fas (-670 ag) and Fas L (-844 tc) and acute myeloid leukemia risk. V. Sugunakar, C. Anuradha, D. Nageswara rao, G. Manjula, E. M. Prajitha, D. Raghnadharao, S. Sudha, A. Venkat Satya Suresh, S. Vishnupriya.

3423W   TRAPing telomerase activity using droplet digital PCR. D. N. Shelton, J. Lin, J. F. Regan, G. Karlin-Neumann, E. H. Blackburn.

3424T   Splicing of HRAS exon 2 is vulnerable: The splicing efficiency of activating mutations in codons 12 and 13 determines Costello syndrome phenotype. B. S. Andresen, A. M. Hartung, J. Swensen, I. E. Uriz, M. Lapin, J. C. Carey, A. Calhoun, P. Yu, C. P. Vaughn, S. F. Dobrowolski, M. R. Larsen, H. Hanson, D. A. Stevenson.

3425F   Familial intracranial meningioma without NF2 and SUFU mutations: Searching for additional predisposing genes. M. Aavikko, H. Ristolainen, E. Kaasinen, P. A. Koivisto, M. Pöyhönen, K. Claes, T. Van Maerken, M. Artama, E. Pukkala, L. A. Aaltonen, P. Vahteristo.

3426W   DICER1 mutations in pituitary blastoma: New gene, new disease. L. de Kock, N. Sabbaghian, F. Plourde, A. Srivastava, D. Bouron-Dal Soglio, N. Hamel, J. H. Choi, S. H. Park, C. L. Deal, M. Dishop, A. Esbenshade, T. Jacques, A. Perry, H. Leichter, P. Maeder, M. A. Brundler, J. Neal, M. Zacharin, M. Korbonits, T. Cole, S. Albrecht, E. Horvath, K. Kovacs, J. R. Priest, W. D. Foulkes.

3427T   Targeted sequencing of MLH1, MLH2, and MSH6 in defective mismatch repair colorectal cancer cases with no identified mutation. M. DeRycke, S. Gunawardena, S. McDonnell, S. Middha, S. Riska, Z. Fogarty, B. Eckloff, D. Schaid, E. Goode, N. Lindor, S. Thibodeau, Colon Cancer Family Registry.

3428F   Annotation of rare variants from exome sequencing in families with lymphoid malignancies. L. R. Goldin, M. L. McMaster, M. Rotunno, J. He, L. Burdette, A. Hutchinson, J. Boland, M. Yeager, M. A. Tucker, S. J. Chanock, N. E. Caporaso.

3429W   Constitutional mismatch repair deficiency syndrome caused my MMR gene founder mutations with a high prevalence in Israel. I. Kedar-Barnes, Z. Levi, H. Toledano, M. Halpern, I. Lerer, T. Peretz, R. Kariv, E. Half, N. Magal, K. Wimmer, Y. Goldberg, D. Berkovich, H. N. Baris.

3430T   Magnetic resonance imaging screening in Li Fraumeni syndrome: An exploratory whole body MRI study (the SIGNIFY study). E. Killick, E. Bancroft, N. Taylor, D. G. Evans, M. Leach, R. Eeles, The SIGNIFY Collaborators and Steering Committee.

3431F   Characterization of RB1 mutations and incidence of undetected defects in retinoblastoma. P. S. Lai, A. P. Alcasabas, G. Sundar, B. L. Quah.

3432W   Exome sequencing of family with carcinoid cancers. D. W. Neklason, G. W. Gilcrease, N. R. Sargent, A. Snow, C. Teerlink, M. Bailey, R. W. Burt.

3433T   Frequencies of BRCA1, BRCA2, PALB2, and CDKN2A germline mutations in familial pancreatic cancer: A PACGENE study. D. B. Zhen, K. G. Rabe, S. Gallinger, S. Syngal, A. G. Schwartz, M. G. Goggins, R. H. Hruban, M. L. Cote, K. Moyes, R. J. Wenstrup, A. R. Hartman, D. Seminara, A. P. Klein, G. M. Petersen.

3434F   Common somatic variations identified in Maffucci syndrome. M. Amyere, V. Wouters, A. Dompmartin, O. Enjolras, I. Kaitila, P. L. Docquier, J. B. Mulliken, L. M. Boon, V. Vikkula.

3435W   A survey of HRAS mutations in a large cohort of patients with Costello syndrome reveals a predisposition for embryonal rhabdomyosarcoma with paternal uniparental disomy. K. M. Robbins, D. L. Stabley, A. Sadreameli, J. Holbrook, S. McCahan, R. Sahraoui, K. W. Gripp, K. Sol-Church.

3436T   Clinical characteristics and genotype-phenotype correlations in a large cohort of Brazilian Li-Fraumeni syndrome patients. M. Achatz, C. Sagne, P. Ashton-Prolla, V. Marcel, A. Nobrega, J. Hall, P. Hainaut.

3437F   Identification of BRCA1 and BRCA2 mutations in Mexican patients with inherited breast and ovarian cancer by full-exon pyrosequencing. R. M. Alvarez, F. Vaca, V. Fragoso, S. Vidal, L. A. Herrera, D. Cantu, J. E. Bargallo, A. Mohar, C. G. Perez.

3438W   Exome sequencing identifies potential new candidate genes for unexplained colorectal adenomatous polyposis. S. Aretz, D. Drichel, M. Kerick, J. Altmueller, A. Laner, S. Horpaopan, S. Vogt, T. Becker, P. Nuernberg, S. Perner, E. Holinski-Feder, M. M. Noethen, P. Hofmann, B. Timmermann, M. Schweiger, I. Spier.

3439T   Prevalence of BRCA1 mutations in hereditary breast/ovarian cancer families and sporadic triple negative breast cancer patients from Algeria. F. Cherbal, R. Bakour, W. Abdou, C. Mehemmai, K. Gassi, H. Gaceb, K. Boualga, N. Kanoun-Zitouni, W. Benbrahim.

3440F   Combination of founder mutation screening and genomic capture using BROCA yield high rate of loss of function mutations in early onset and familial breast and ovarian cancer in Greece. F. Fostira, T. Walsh, S. Casadei, M. K. Lee, A. Vratimos, G. Fountzilas, I. Konstantopoulou, M.-C. King, D. Yannoukakos.

3441W   A constitutional translocation disrupting NUP98 associated with bilateral renal angiomyolipomas. A. Lehman, M. Steinraths, Z. Zong, L. Brown, K. Mungall, K. M. Nip, I. Birol.

3442T   An unusual case of Lynch syndrome — Should chromosome analysis be offered routinely in the investigation of this condition? A. Murray, E. Kirk, M. Prothero, D. Barrell, S. Rolleston, S. Palmer-Smith, P. Thompson.

3443F   Germline BAP1 mutations in uveal melanoma patients with a personal and/or family history of renal cell carcinoma. R. Pilarski, C. M. Cebulla, O. Saqr, K. Rai, J. B. Massengill, F. H. Davidorf, M. H. Abdel-Rahman.

3444W   Combined effect of germline mutations in MUTYH and DNA mismatch repair genes on risk of colorectal cancer. A. K. Win, J. P. Young, D. D. Buchanan, S. P. Cleary, H. Kim, J. G. Dowty, R. J. MacInnis, T. Burnett, L. Le Marchand, P. A. Newcomb, R. W. Haile, N. M. Lindor, J. L. Hopper, S. Gallinger, M. A. Jenkins.

3445T   Towards scoring all 35,397 possible missense variants of BRCA1 for activity. L. M. Starita, J. O. Kitzman, J. G. Gullingsrud, J. D. Parvin, J. Shendure, S. Fields.

3446F   Clinical presentation of patients with mutations in the APC regions associated with AFAP. P. Kaushik, K. Moyes, C. Arnell, M. Landon, R. Wenstrup.

3447W   High sensitive detection of colorectal cancer mutations using third generation sequencing. G. Russo, A. Patrignani, L. Poveda, F. Hoehn, R. Schlapbach, A. Garvin.

3448T   SNV calls using RNA-seq complements Exome-seq variant calling in tumor cell lines. S. Wong, P. Ebert, S. Bray, J. Calley, T. Barber.

3449F   Novel genetic and epigenetic alterations in the von Hippel-Lindau gene in a cohort of sporadic renal cell carcinoma patients from Pakistan. A. Abid, S. Ajaz, S. Firasat, S. Shahid, A. Shehzad, G. Sultan, R. Mohsin, A. Hashmi, M. Mubarak, S. A. A. Naqvi, S. A. H. Rizvi, S. Q. Mehdi, S. Khaliq.

3450W   Exome sequencing of cancer cell lines uncovers mutations not reported in commonly used COSMIC and CCLE databases. S. Bray, K. Yu, Y. Webster, S. Wong, Y. Yue, I. Wulur, T. Barber.

3451T   Hierarchical models of mutational recurrence and allelic burden in prostate cancer. R. Cowper, N. Sinnott-Armstrong, M. Lupien, M. Kellis.

3452F   Genomic characterization of invasive cervical cancer in Guatemala and Venezuela: Common activation of the PIK3CA pathway. M. Dean, E. Gharzouzi, E. Alvirez-Freites, G. Villagran, G. Calabrese, J. Sawitzke, H. Lou, J. Boland, S. Chanock, M. Yeager.

3453W   Whole genome sequencing of high-grade treatment-naïve prostate tumors. B. J. Decker, D. M. Karyadi, E. Karlins, L. S. Tillmans, S. N. Thibodeau, E. A. Ostrander.

3454T   Genomic landscape of 2 gastric cancer cases. D. Esser, N. Holze, J. Haag, S. Krüger, V. Warneke, S. Schreiber, C. Röcken, P. Rosenstiel.

3455F   The application of next-generation sequencing for mutation analysis of myeloproliferative neoplasms patients in the state of Qatar. Q. Fernandes, N. Al-Dewik, Y. K. Naidu, B. Cassinat, J. J. Kiladjian, H. El Ayoubi, N. Hammadi, G. Perkins, M. Yassin.

3456W   Massive parallel sequencing of BRCA1 and BRCA2: Detection of deleterious mutations and variant of unknown significance in breast cancer patients from Colombia, South America. L. Galeano Petro, G. Guevara Pardo, H. Groot De Restrepo, D. Restrepo Montoya.

3457T   Understanding the significance of individual tumor genetic heterogeneity by developing next-generation genetic databases as advanced analysis tools. B. Gottlieb, L. K. Beitel, M. Trifiro.

3458F   Utilizing publically available NGS tumor data to identify novel oncology targeted therapies. D. Greenawalt, J. Bradford, M. Wappett, A. Dulak, K. Vasudevan, K. Jacques, S. Guichard, J. Dry.

3459W   Mutation status of p53 in head and neck squamous cell carcinoma. E. Gunduz, G. Nas, M. Acar, S. Dede, K. Erdoğan, C. Moroski Erkul, M. Gunduz.

3460T   Next-generation sequencing of paired drug-sensitive and resistant cell lines identifies spectrum of DNA changes associated with drug resistance. P. Jia, H. Jin, C. B. Meador, J. Xia, K. Ohashi, L. Liu, V. Pirazzoli, K. B. Dahlman, K. Politi, F. Michor, Z. Zhao, W. Pao.

3461F   Somatic mutation profiles of non-syndromic early-onset colorectal cancer. N. Jinawath, T. Pongrujikorn, S. Ngernna, C. Songpattanasilp, J.-S. Su, A. Jinawath, A. Tunteeratam, B. Suktitipat.

3462W   Comprehensive molecular analysis of basal breast cancer treated with neoadjuvant paclitaxel. K. R. Kalari, X. Tang, K. J. Thompson, P. T. Vedell, H. Sicotte, S. N. Hart, A. Moyer, D. Visscher, A. A. Nair, J. P. Sinnwell, D. W. Mahoney, P. Barman, T. J. Dockter, K.N. Jones, A. L. Conners, V. J. Suman, J. E. Eckel-Passow, C. G. Schultz, J. P. Kocher, E. D. Wieben, R. M. Weinshilboum, L. Wang, J. C. Boughey, M. P. Goetz.

3463T   Next-generation sequencing of osteosarcoma identifies the PI3K/mTOR pathway as a unifying vulnerability to be exploited for targeted therapy. A. Kiezun, K. Janeway, P. Tonzi, J. Mora, S. Aguiar, G. Mercado, J. Melendez, L. Garraway, C. Rodriguez-Galindo, S. Orkin, T. Golub, G. Getz, J. A. Yunes.

3464F   RNA-seq revealed alternative splicing and fusion transcripts in non-small cell lung cancer. W. Kim, S. Park, M. Cheon.

3465W   Exome sequencing of mammospheres and primary tumors indicates dynamic transitions between stem-like and differentiated states in breast cancer. D. Klevebring, G. Rosin, R. Ma, J. Lindberg, K. Czene, J. Kere, I. Fredriksson, J. Bergh, J. Hartman.

3466T   Genomic alterations during disease evolution in CML patients displaying an isochromosome 17q. N. Larsson, H. Liljebjorn, M. Rissler, C. Högberg, J. Richter, T. Fioretos.

3467F   Whole exome sequencing identifies different sets of gene mutations in various subtypes of early-onset breast cancers. C. Y. Lee, W. H. Kuo, C. H. Lin, Y. S. Lu, H. I. Yang, K. Y. Lo, C. K. Liu, C. H. Chang, C. N. Hsiung, N. Leng, K. Nobuta, C. D. Haudenschild, C. H. Chen, J. Y. Wu, K. P. Chiu, A. L. Cheng, K. J. Chang, C. Y. Shen, C. J. Chen.

3468W   Exome sequencing of cell-free plasma DNA in prostate cancer patients. J. Lindberg, M. Neiman, D. Klevebring, P. Wiklund, L. Egevad, H. Grönberg.

3469T   Mutational enrichment of cancer-related gene sets in 11 aggressive prostate cancers. K. J. Lindquist, R. Kazma, T. J. Hoffmann, B. A. Rybicki, A. Levin, P. L. Paris, J. S. Witte.

3470F   Retrospective analysis of genomic and transcriptional changes in a case of Ewing's sarcoma tumor progression determined by whole transcriptome and exome semiconductor-based sequencing. G. Meredith, Y. Sun, N. S. Hernandez, M. Taylor, B. Sanderson, K. Giorda, T. Woodburn, G. Bee, J. Bishop, S. Ghosh, P. Kapranov, J. Buckley, K. Bramlett, C. P. Reynolds, T. Triche.

3471W   Immunohistochemical analysis of uterine leiomyomas, histopathological uterine leiomyoma subtypes, and uterine leiomyosarcomas. N. Mäkinen, K. Kämpjärvi, R. Bützow, P. Vahteristo.

3472T   LOH analysis of the ING3 and ING5 genes in breast cancer. G. Nas, E. Gunduz, M. Acar, E. Uctepe, M. Bozer, C. Dener, S. Yenidunya, M. Gunduz.

3473F   Characterization of molecular alterations in urologic cancers. M. L. Nickerson, K. M. Im, S. Turan, T. Andresson, L. E. Moore, M. Dean.

3474W   Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome. S. I. Nikolaev, F. Santoni, A. Vannier, E. Falconnet, E. Giarin, G. Basso, A. Hoischen, J. A. Veltman, J. Groet, D. Nizetic, S. E. Antonarakis.

3475T   Characterization of somatic alterations in the novel tumor suppressor DEAR1 using ultra-deep targeted next-generation sequencing. J. Reuther, N. Chen, A. Sahin, S. Lott, A. Killary.

3476F   Individualized analysis of somatic mutations and CNV from exomes obtained from breast cancer core needle biopsies in women with newly diagnosed locally advanced breast cancer. H. Sicotte, S. Hart, J. P. Sinwell, S. Baheti, P. T. Vedell, K. R. Kalari, X. Tang, K. J. Thompson, D. W. Mahoney, P. Barman, J. M. Evans, C. Wang, Y. W. Asmann, J. P. A. Kocher, T. J. Dockter, K. N. Jones, A. L. Conners, A. M. Moyer, D. W. Visscher, V. J. Suman, J. Eckel Passow, R. Weinshilboum, L. Wang, J. C. Boughey, M. P. Goetz.

3477W   Subclonal evolution and genomic drivers of relapse in childhood acute lymphoblastic leukemia. J.-F. Spinella, R. Vidal, J. Healy, V. Saillour, C. Richer, P. Cassart, M. Ouimet, S. Busche, B. Ge, T. Pastinen, D. Sinnett.

3478T   Ultra-high quality sequencing assay for comprehensive genetic panel analysis of rare tumor-derived circulating cell-free DNA. A. Talasaz, D. Sebisanovic, G. Mei, L. Siew, H. Eltoukhy.

3479F   Next-generation sequencing of BRCA1 and BRCA2 in Bulgarian breast cancer patients and controls. D. I. Toncheva, L. Balabanski, G. Antov, I. Dimova, S. Ivanov, M. Nacheva, I. Gavrilov, D. Nesheva, B. Rukova, S. Hadzhidekova, M. Malinov.

3480W   Recurrent somatic mutations in loss of heterozygosity regions of hepatocellular carcinoma. S. Tsai, Y. Lin.

3481T   Importance of genetic analysis in the prediction of retinoblastoma in South Indian patients. A. Vanniarajan, G. Namrata, K. Usha, R. S. Akram, K. Thirumalairaj, I. Jeyaram, R. Santhi, R. Kim, V. R. Muthukkaruppan.

3482F   Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. M. Zeschnigk, M. Martin, L. Maβhöfer, P. Temming, S. Rahmann, C. Metz, N. Bornfeld, J. van de Nes, L. Klein-Hitpass, A. G. Hinnebusch, B. Horsthemke, D. R. Lohmann.

3483W   Exome sequencing characterize the somatic mutation spectrum of early serrated lesions in a patient with BRAF negative hyperplastic polyposis syndrome. P. Hoffmann, S. Horpaopan, J. Altmueller, R. Hueneburg, P. Kahl, D. Drichel, H. Thiele, I. Spier, M. Odenthal, M. M. Noethen, C. Strassburg, H. Froehlich, P. Nuernberg, R. Buettner, S. Aretz.

3484T   First identification of frequent somatic VHL gene alterations in head and neck paragangliomas. A. Merlo, S. Bernaldo de Quirós, I. Saenz de Santamaría, C. Suarez, M. D. Chiara.

3485F   Sensitive, highly multiplexed somatic mutation analysis of FFPE tissues by deep amplicon sequencing on MiSeq®. C. Lin, K. Chang, E. Upsall, I. Lewis, A. Tian, A. Iyer, G. Costa, R. Shen.

3486W   Alternatively spliced DICER1 transcripts arising from genomic point mutations. M. Wu, L. de Kock, L. Witkowski, M. R. Fabian, W. D. Foulkes.

3487T   A personalized mutation network approach to detect putative cancer driver genes from next-generation sequencing data. Z. Zhao, P. Jia.

3488F   DNA copy number variation and expression of miRNA150 suggestive as prognostic factor for colorectal cancer. R. V. Andrade, N. Gasparini, L. Sakamoto, G. Pereira, T. Lins.

3489W   MicroRNA-192 regulates cellular proliferation in medulloblastoma seeding by targeting of dihydrofolate reductase. S. A. Choi, S. Y. Yang, H. A. Kim, K. C. Wang, J. H. Phi, J. Y. Lee, J. H. Choi, D. Y. Um, Y. J. Moon, P. A. Kwak, E. J. Kwon, S. K. Kim.

3490T   Genome wide miRNA expression profile in oral cancer: An exploratory study. N. De Sarkar, B. Roy.

3491F   Germline BAP1 mutations in sporadic and familial mesothelioma. I. Dianzani, M. Betti, E. Casalone, D. Ferrante, A. Romanelli, F. Grosso, S. Guarrera, L. Righi, G. Pelosi, R. Libener, D. Mirabelli, V. Ascoli, M. Papotti, G. Matullo, C. Magnani.

3492W   The role of genetic ancestry in DNA repair capacity among Puerto Rican women with breast cancer. H. J. Diaz-Zabala, L. Morales, J. Matta, J. Dutil.

3493T   A non-Smad TGF-β signaling pathway govern adult stem cell state and breast cancer metastasis with the cooperation of SLUG and SOX9. H. Fazilaty, B. Behnam.

3494F   Copy number variation and the expression of miRNAs in colorectal cancer. N. Gasparini, T. Lins, S. Andreoli, L. Lemos, J. Lima, G. Pereira, L. Sakamoto, R. Pereira, R. Pogue, R. Andrade.

3495W   Expression profiling of cofilin-1 in breast cancer cell lines and biopsies. A. Hadjisavvas, C. Sutton, S. Shaheed, P. Loadman, V. Speirs, A. Hanby, K. Kyriacou.

3496T   Angiogenesis in chronic hepatic patients. I. A. Helwa, H. A. El Dakhakhny, N. M. Kholoussi, R. F. Mahmoud, A. Hamada.

3497F   Cancer phenotypes of germline monoallelic ATM mutation carriers and their families. H. LaDuca, A. Stuenkel, S. Keiles, T. Pesaran, S. Tandy, E. Chen, V. Speare, C. Radford, C. Gau.

3498W   Contralateral mastectomy and survival after breast cancer in BRCA1 and BRCA2 mutation carriers. K. Metcalfe, S. Gershman, P. Ghadirian, H. Lynch, C. Snyder, N. Tung, C. Kim-Sing, A. Eisen, W. Foulkes, B. Rosen, P. Sun, S. Narod.

3499T   Genetic diagnosis of a series of Brazilian patients with pheochromocytomas and paragangliomas. O. Moraes, D. Oliveira, B. Araújo, C. Meireles, L. Vianna, J. Mazzeu, M. Batista, A. Lofrano-Porto.

3500F   Prevalence of succinate dehydrogenase-deficient GIST in adults with GIST. I. R. Rainville, E. J. Root, A. J. Wagner, S. George, C. L. Corless, J. E. Garber, J. A. Hornick.

3501W   Value of microRNA-based molecular profiling in cancer of unknown primary cases for familial cancer risk assessment and genetic counseling. E. R. Wassman, E. Goren, J. Hale, C. Hogan, B. St.Cyr, M. O. Sanden.

3502T   Identification of tissue-specific long intergenic non-coding RNAs in normal prostate tissue. Y. Zhang, A. J. French, A. A. Nair, S. McDonnell, S. Middha, S. Riska, Z. Fogarty, D. Schaid, S. N. Thibodeau.

3503F   The novel founder MSH6 mutation c.10C>T is an important cause of Lynch syndrome in the French Canadian population. E. Castellsague, J. Liu, A. Volenik, R. Gagne, B. Maranda, S. Giroux, J. Latreille, L. Palma, L. Kasprzak, V. Marcus, M. Breguet, S. Nolet, A. M. Mes-Masson, D. Provencher, G. Chong, F. Rousseau, W. Foulkes.

3504W   Whole exome sequencing of familial aggregations of radiation-associated meningiomas. A. Pathak, R. Bruchim, D. R. Stewart, S. Sadetzki.

3505T   Global differential expressions of isoforms of miRNA in retinoblastoma: Correlation with level of expressed 3’-5’-exonucleases. A. Ganguly, J. Leipzig, J. Richards-Yutz, J. Purrazzella.

3506F   MALAT1 is deregulated and co-expressed with CREBBP in the long non-coding transcriptome of childhood acute lymphoblastics leukemia. R. Vidal, C. Richer, JF. Spinella, V. Saillour, M. Ouimet, S. Langlois, P. Cassart, J. Healy, E. Bareke, A. Droit, D. Sinnett.

3507W   Prediction of GWAS-identified risk loci in breast cancer and correlated SNPs through mapped epigenetic phenomena. P. S. Rajagopal, Q. Li, P. Kraft, M. Freedman.

 

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