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American Society of Human Genetics - San Diego - October 18-22, 2014 Contact Search
 

 

If you have any questions or comments then please email the ASHG Meeting Department ashgmeetings@ashg.org.


 

Poster Authors: The letters S, M, or T indicate the day (i.e., Sunday, Monday, or Tuesday) on which authors present their work. Posters remain on the boards for all three days. Please remember to review the poster presentation guidelines before you prepare your poster.

 

Platform/Plenary Authors: Please remember to review the speaker presentation guidelines before you prepare your slides.


PRESENTER'S NAME Partial
Abstract Title
Session Assignment Program# Session Dates
&
Locations
Presentation Time
Pachajoa, Harry Klinefelter Syndrome (48, XXXY) in a ... POSTER
Clinical Genetics and Dysmorphology
2612S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Padula, Agnese The complexity of KDM5C transcription: an ... POSTER
Molecular Basis of Mendelian Disorders
3047M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pagani, Luca Highlighting strongly differentiated ... POSTER
Evolutionary and Population Genetics
1975S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Palacios-Reyes, María del Carmen Human neural stem dell in the form of ... POSTER
Epigenetics
507M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Palamara, Pier F. Inference of mutation rates using hidden ... POSTER
Evolutionary and Population Genetics
1956M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Palasuwan, Attakorn Computational Medicine for Investigation ... POSTER
Bioinformatics and Genomic Technology
1398S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Palculict, Timothy Blake Identification of familial Wilms tumor ... POSTER
Cancer Genetics
3258M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Palmer, Cameron D. Effects of Genotype Uncertainty on ... POSTER
Statistical Genetics and Genetic Epidemiology
1809S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Palmer, Melody R. The Genetics of Erectile Dysfunction Risk ... POSTER
Complex Traits and Polygenic Disorders
994S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Palmer, Nicholette D. Linkage-based Analytical Approaches with ... POSTER
Complex Traits and Polygenic Disorders
1089T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Palumbo, Orazio IMPLEMENTATION OF HIGH-RESOLUTION SNP ... POSTER
Clinical Genetics and Dysmorphology
2617T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pan, Qi Patterns of somatic mutations in hepatitis ... POSTER
Cancer Genetics
3374S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Pan, Shujuan De novo Mutations Identified in Clinical ... PLATFORM
Session #57. Diagnostic Yield of New Genomic Technologies
316 Tuesday, October 21
Room 29, Upper Level
11:45 am
Pan, Xinghua Epigenomic Analysis for Single Cells and ... POSTER
Epigenetics
501M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pandey, Rahul The Type 1 Diabetes Susceptibility Gene ... POSTER
Complex Traits and Polygenic Disorders
896M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pandya, Arti Whole exome sequencing as a tool to ... POSTER
Clinical Genetic Testing
2579S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Pandya, Ravi SNAP: fast, accurate sequence alignment ... PLATFORM
Session #16. Variant Calling: What Makes the Difference?
39 Sunday, October 19
Room 20A, Upper Level
2:00 pm
Panjaliya, Rakesh K. Genomic Affinities Among Different ... POSTER
Evolutionary and Population Genetics
1919S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Panos, Laura Further Defining the Polyposis Phenotype ... POSTER
Cancer Genetics
3427T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Panousis, Nikolaos I. Revealing the genetic and gene expression ... POSTER
Cardiovascular Genetics
2075S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Papa, Fabrizio Genetic investigation of cystic fibrosis ... POSTER
Clinical Genetic Testing
2571M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pappas, John G. Whole gene duplication and partial ... POSTER
Clinical Genetics and Dysmorphology
2724M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Paquis, Veronique A mitochondrial origin for frontotemporal ... PLATFORM
Session #51. Neurogenetics: From Gene to Mechanism (II)
268 Tuesday, October 21
Room 6CF, Upper Level
11:45 am
Parikh, Hemang Method for classifying candidate ... POSTER
Genome structure, variation and function
582T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
PARK, CHANGHO Pooled targeted resequencing to identify ... POSTER
Complex Traits and Polygenic Disorders
1021S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Park, Danny S. Exploring the Role of Regulatory Variation ... POSTER
Cancer Genetics
3298T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Park, Hayne C. Combined Approach of Targeted Exome ... POSTER
Clinical Genetic Testing
2519S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Park, Jin Ho Rs738409 Polymorphism in PNPLA3 Gene is ... POSTER
Complex Traits and Polygenic Disorders
857M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
PARK, JONG-EUN Microsatellites in the 5' flanking region ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1136M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Park, Mi-Hyun Mutation in ANKFY1 as a Cause of ... POSTER
Molecular Basis of Mendelian Disorders
2969M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
parker, glendon Identification of common non-synonymous ... POSTER
Bioinformatics and Genomic Technology
1605S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Parkhurst, Emily S. Neurofibromatosis type 1 and Optic Gliomas. ... POSTER
Clinical Genetics and Dysmorphology
2694M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Parra, Esteban J. Association study confirms that two OCA2 ... POSTER
Evolutionary and Population Genetics
1963S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Pasaniuc, Bogdan Functional partitioning of Prostate Cancer ... PLATFORM
Session #15. Prostate Cancer: Expression Informing Risk
29 Sunday, October 19
Room 6DE, Upper Level
1:30 pm
Pastore, Nunzia Unfolded protein response induced by ... POSTER
Therapy for Genetic Disorders
2177S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Patel, Ankita Is it time to retire the standard ... POSTER
Cytogenetics
3201T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Patel, Chirag J. Studying the elusive exposome and its ... POSTER
Statistical Genetics and Genetic Epidemiology
1858M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Patel, Sejal Novel bioinformatics driven ... POSTER
Bioinformatics and Genomic Technology
1532T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Patel, Tapan Prevalence of “Y” chromosome ... POSTER
Clinical Genetics and Dysmorphology
2653T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Patel, Yesha M. Common genetic variation explains a ... POSTER
Complex Traits and Polygenic Disorders
995M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Paternoster, Lavinia A trans-ethnic genome-wide association ... PLATFORM
Session #67. Autoimmune Genes: Discovery & Function
391 Tuesday, October 21
Room 29, Upper Level
4:30 pm
Pathak, Anand Prospectively Identified Incident ... POSTER
Cancer Genetics
3313T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pathak, Smita Analysis of PCR duplicates and Library ... POSTER
Bioinformatics and Genomic Technology
1712T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Patino, Luz Adriana EXOMIC SEQUENCING AND MOLECULAR ANALYSIS ... POSTER
Clinical Genetics and Dysmorphology
2696S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Patowary, Ashok Targeted Sequencing of Candidate Genes ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1128T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Patsopoulos, Nikolaos A. Effect Fine Mapping: a method to identify ... POSTER
Statistical Genetics and Genetic Epidemiology
1757T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Patwardhan, Anil An Augmented Exome Providing Accurate ... PLATFORM
Session #19. Genomic Methods in Clinical Practice
68 Sunday, October 19
Room 28, Upper Level
3:15 pm
Paul, Binu Mary Characterization of mutation negative ... POSTER
Molecular Basis of Mendelian Disorders
2970T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Paul, Jasmine Cytogenetic Abnormalities in Products of ... POSTER
Cytogenetics
3191T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pavlidis, Paul Computational tools for discovery of ... POSTER
Bioinformatics and Genomic Technology
1399M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pawlikowska, Ludmila The ALK1 IVS3-35A>G polymorphism is ... POSTER
Molecular Basis of Mendelian Disorders
3124S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Payne, Felicity Lessons Learned From the Sequencing of ... POSTER
Complex Traits and Polygenic Disorders
804T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pedergnana, Vincent Use of exome sequencing data for the ... POSTER
Statistical Genetics and Genetic Epidemiology
1798M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pedroza, Larysse SRA Opposite expression regulation of ... POSTER
Cancer Genetics
3482S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Pelkonen, Mikko The type II transmembrane serine proteases ... POSTER
Cancer Genetics
3466T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
pellegrino, renata A Genome-wide Association Study of ... POSTER
Complex Traits and Polygenic Disorders
948T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Peloso, Gina Marie Exome sequences and rare variant ... POSTER
Cardiovascular Genetics
2132M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pemberton, Paul J. Diploid Alignment of Whole Human Genome ... POSTER
Bioinformatics and Genomic Technology
1505T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pemov, Alexander Evidence of multiple independent NF2 ... POSTER
Cancer Genetics
3395S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Peńa-Padilla, Christian Clinical and pathological features of an ... POSTER
Clinical Genetics and Dysmorphology
2732S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Pendergrass, Sarah A Phenome-Wide Association Study of ... POSTER
Pharmacogenetics
710M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Peng, Qian Whole genome association and genetic ... POSTER
Evolutionary and Population Genetics
1897S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Peng, Qianqian The pleiotropic effects of EDARV370A in an ... POSTER
Evolutionary and Population Genetics
1986M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Penn, Osnat The discovery of integrated gene networks ... PLATFORM
Session #40. Genetics of Complex Neuropsychiatric Disorders
194 Monday, October 20
Room 6DE, Upper Level
5:30 pm
Penney, Kathryn Association of Prostate Cancer Risk ... PLATFORM
Session #15. Prostate Cancer: Expression Informing Risk
34 Sunday, October 19
Room 6DE, Upper Level
2:45 pm
Penton, Andrea Lenore Cytogenetic characterization of 2 patients ... POSTER
Cytogenetics
3160T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Peralta, Juan M. Allele-specific DNase I hypersensitive ... POSTER
Statistical Genetics and Genetic Epidemiology
1789M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pereira, Fernanda dos S. Modifiers of age at onset in ... POSTER
Molecular Basis of Mendelian Disorders
3087T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pereira, Vanessa G. Lysosomal acid lipase activity in dried ... POSTER
Metabolic Disorders
2228M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pérez, Cristian A. The NINDS Repository collection of ... POSTER
Molecular Basis of Mendelian Disorders
3090T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Perez Millan, Maria Ines Hypopituitarism caused by dysregulation of ... POSTER
Molecular Basis of Mendelian Disorders
3018T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pérez Ramírez, Monserrat Chromosomal Aberrations associated with ... POSTER
Cancer Genetics
3339M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pérez Sánchez, Matias 45,X (30%); 46,X,i(Xq) (60%) mosaicism. ... POSTER
Clinical Genetic Testing
2452T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pérez-Vera, Patricia Pigmentary mosaicism with 45,X and an ... POSTER
Cytogenetics
3202T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pericak-Vance, Margaret Identifying endophenotypes associated with ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1343M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Perovanovic, Jelena Mutations in nuclear envelope change ... PLATFORM
Session #65. Beyond the Sequence: Genomic Regulation and Disease
378 Tuesday, October 21
Room 20D, Upper Level
5:15 pm
PERRAULT, Isabelle Defective core protein IFT81 as a rare ... POSTER
Molecular Basis of Mendelian Disorders
2934T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Perreault-Micale, Cynthia L. Pathogenic mutations in genes responsible ... POSTER
Clinical Genetic Testing
2461T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Perry, Christina G. Filtering for Genomic Nonsense to Find ... PLATFORM
Session #52. Contribution of Common and Rare Variation to Obesity-Related Traits
276 Tuesday, October 21
Room 6DE, Upper Level
11:45 am
Pers, Tune H. Comprehensive, integrative and ... PLATFORM
Session #61. Genomic Studies of Schizophrenia and Bipolar Disorder
346 Tuesday, October 21
Room 6CF, Upper Level
5:15 pm
Persad, Patrice Jan Genome-wide analysis of mitochondrial ... PLATFORM
Session #66. A Clear Vision for Genetic Eye Diseases
383 Tuesday, October 21
Room 28, Upper Level
4:30 pm
Pescatore, Alessandra Incontinetia pigmenti: identification of ... POSTER
Molecular Basis of Mendelian Disorders
3027T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Peter, Benjamin M. Inferring the effective founder size of a ... POSTER
Evolutionary and Population Genetics
2014M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Peterlongo, Paolo The FANCM c.5791C>T nonsense mutation ... POSTER
Cancer Genetics
3259T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Petersen, Britt-Sabina Exome sequencing of multiplex pedigrees ... POSTER
Complex Traits and Polygenic Disorders
793S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Peterson, Christine B. Multiple testing procedures for GWAS with ... POSTER
Statistical Genetics and Genetic Epidemiology
1782S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Peterson, Josh F. Clinician Views about Implementation of ... POSTER
Pharmacogenetics
723S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Petkova, Desislava Genotyping of the UK Biobank resource, a ... POSTER
Statistical Genetics and Genetic Epidemiology
1819M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Petridis, Christos The CDH1 gene as a susceptibility locus ... POSTER
Cancer Genetics
3260S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
PETROPOULOU, EVMORFIA Rare and common variation in SCN10A is ... POSTER
Cardiovascular Genetics
2144M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Petukhova, Lynn Functional genomics of the costimulatory ... POSTER
Complex Traits and Polygenic Disorders
900T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pezzolesi, Marcus G. Targeted exome sequencing in extended ... POSTER
Complex Traits and Polygenic Disorders
768T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pfeiffer, Liliane DNA methylation of lipid-related genes ... POSTER
Epigenetics
457M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pfeufer, Arne Genomic CNVs can cause sudden infant death ... POSTER
Genome structure, variation and function
583S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Pham, Xuan A polymorphic di-nucleotide repeat (DNR) ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1312S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Philibert, Robert A. The Genome Wide DNA Methylation Signature ... POSTER
Epigenetics
458T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Philippe, Christophe WWOX and severe early onset epileptic ... POSTER
Molecular Basis of Mendelian Disorders
3082S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
PHOKAEW, CHUREERAT Gene subnetworks in cocaine-induced ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1189S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Phowthongkum, Prasit Maternal Uniparental Disomy Prader-Willi ... POSTER
Clinical Genetics and Dysmorphology
2613M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Picco, Gabriele Transcriptional hallmarks of ... POSTER
Clinical Genetics and Dysmorphology
2678S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Pickett, Brandon D. A comparison of commonly used alignment ... POSTER
Bioinformatics and Genomic Technology
1612M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pierce, Brandon L. Mediation analysis identifies causal ... POSTER
Genome structure, variation and function
646S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Pierce, Sarah B. Functional analysis in C. elegans of ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1313M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pierson, Emma Like Mother, Like Daughter: Analysis of ... POSTER
Complex Traits and Polygenic Disorders
1105S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Pietrzyk, Aleksandra Elzbieta Detection of GPC3 gene deletion by ... POSTER
Clinical Genetics and Dysmorphology
2673M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pietrzykowski, Andrzej Z. Genetic and epigenetic control of ... POSTER
Epigenetics
479M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pilarski, Robert T. Germline epigenetic inactivation of BAP1 ... POSTER
Cancer Genetics
3274T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pilie, Patrick G. Germline Mutations in Men with Multiple ... POSTER
Cancer Genetics
3282M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pillers, De-Ann M. TLR1 SNP associated with preterm birth in ... POSTER
Prenatal, Perinatal and Reproductive Genetics
2852S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Pinard, Amélie WES reporting of mutations from ... POSTER
Cardiovascular Genetics
2113S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Pinelli, Michele Distinct properties of de novo mutations ... PLATFORM
Session #42. Genome Variation and its Impact on Autism and Brain Development
212 Monday, October 20
Room 20BC, Upper Level
6:00 pm
Pinto, Irene P. The identification of ring 13 chromosome ... POSTER
Cytogenetics
3203T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
PINTO, RENATA M. Obesity and metabolic disorders in ... POSTER
Complex Traits and Polygenic Disorders
914M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pipiras, Eva New case of a small AFF2 (FMR2) intragenic ... POSTER
Clinical Genetics and Dysmorphology
2714S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Pique-Regi, Roger Global profiling of condition specific ... POSTER
Bioinformatics and Genomic Technology
1477M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pirinen, Matti Estimating and interpreting pairwise ... POSTER
Statistical Genetics and Genetic Epidemiology
1873M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pisani, Laura Congenital asplenia in a patient with ... POSTER
Clinical Genetics and Dysmorphology
2647T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pitt, Jason J. Investigating the Genetic Basis of Breast ... POSTER
Cancer Genetics
3502T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Plaseska-Karanfilska, Dijana Expression of hsa-miR-34b, hsa-miR-181c, ... POSTER
Prenatal, Perinatal and Reproductive Genetics
2815S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Platt, Daniel E. Y Chromosome STR Mutation Rates: the ... POSTER
Evolutionary and Population Genetics
1941S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Plazzer, John-Paul A Convergent Clinical Exome Pipeline ... POSTER
Bioinformatics and Genomic Technology
1592T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Plewczynski, Dariusz Impact of Structural Variants on the ... POSTER
Genome structure, variation and function
578M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Plichta, Damian Rafal Systemic effects of genetic variation on ... POSTER
Complex Traits and Polygenic Disorders
1083T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Plon, Sharon Unanticipated germline cancer ... PLATFORM
Session #55. Cancer Susceptibility Genes: Identification and Implementation
302 Tuesday, October 21
Room 20D, Upper Level
12:15 pm
Plötz, Tanja A. Functional Characterization of Long-QT ... PLATFORM
Session #31. Cardiovascular Genetics I: Single Gene Stories
119 Monday, October 20
Room 20A, Upper Level
10:45 am
Poeta, Loredana KDM5C SINEUP activates an epigenetic path ... POSTER
Epigenetics
483M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Polla, Daniel L. Mutation in the EZH2 gene in a Brazilian ... POSTER
Clinical Genetics and Dysmorphology
2726S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Pollard, Martin O. Using haploid human DNA to design and ... POSTER
Bioinformatics and Genomic Technology
1600M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Poornima, Subhadra Exome sequencing reveals novel genetic ... POSTER
Complex Traits and Polygenic Disorders
744T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Popadin, Konstantin Effect of negative selection on ... POSTER
Evolutionary and Population Genetics
1930M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Popejoy, Alice B. Non-visual Opsin Evolution and ... POSTER
Evolutionary and Population Genetics
1931S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Popic, Victoria Automated tumor phylogeny reconstruction ... PLATFORM
Session #33. Genomic Alterations of Tumors
140 Monday, October 20
Room 20D, Upper Level
12:00 pm
Popp, Bernt Ten years apart: the second family with ... POSTER
Molecular Basis of Mendelian Disorders
3054T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Poquet, Hélčne Further evidence for DLGAP2 as an ASD/ ID ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1129S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Porras, Angela HLA-G gene polymorphisms in Mexican women ... POSTER
Prenatal, Perinatal and Reproductive Genetics
2817S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Posey, Jennifer E. Whole Exome Sequencing to Uncover ... POSTER
Molecular Basis of Mendelian Disorders
2971S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Potluri, V R. Apparent fetal developmental correction of ... POSTER
Cytogenetics
3183T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Povysil, Gundula Population specific patterns of novel ... POSTER
Evolutionary and Population Genetics
1994M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Powell, Bradford Cole Look before you leap, and list before you ... PLATFORM
Session #64. Exome Sequencing as Standard of Care in Clinical Genetics
372 Tuesday, October 21
Room 20BC, Upper Level
5:45 pm
Powis, Zoe Diagnostic exome sequencing of patients ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1172M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Prada, Carlos E. Genetic and Metabolic Causes of Neonatal ... POSTER
Cardiovascular Genetics
2060M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Prasad, Megana K. GenoDENT: A targeted next-generation ... POSTER
Clinical Genetic Testing
2530T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Prasad, R K. Functional characterization and ... POSTER
Molecular Basis of Mendelian Disorders
3035M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Pratt, Mark R. Optimized Exome Sequencing for Discovery ... PLATFORM
Session #16. Variant Calling: What Makes the Difference?
43 Sunday, October 19
Room 20A, Upper Level
3:00 pm
Pratto, Florencia High-resolution personal genome-wide maps ... POSTER
Genome structure, variation and function
671M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Preuss, Christoph Genetic dissection of a novel X-linked ... POSTER
Cardiovascular Genetics
2058M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Priamvada, Gargi Role of APOE4 genotypes in predicting ... POSTER
Pharmacogenetics
724M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Prieto, Juan C. A Case report of disorders of sex ... POSTER
Clinical Genetics and Dysmorphology
2738S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Prins, Bram P. Whole genome sequencing association study ... POSTER
Cardiovascular Genetics
2145S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Priya, Rinki Ratna Exome sequencing in extended families with ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1229M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Probst, Frank J. A Mouse Mutagenesis Scheme to Isolate ... POSTER
Genome structure, variation and function
634S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Proitsi, Petra Genetic influences on metabolite levels in ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1166M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Prokudin, Ivan WNT signalling and eye development disease ... POSTER
Clinical Genetics and Dysmorphology
2697M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Proukakis, Christos Could somatic copy number alterations ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1144S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Prows, Cynthia A. Comparison of parents’ initial intent ... POSTER
Pharmacogenetics
716M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Puebla-Pérez, Ana M. Association of 2R3R polymorphism of the ... POSTER
Cancer Genetics
3299S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Pugliesi, Loren Diagnosis of Lesch-Nyhan syndrome in an ... POSTER
Metabolic Disorders
2302M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pulyakhina, Irina Allelic imbalance in gene expression as a ... POSTER
Cancer Genetics
3281S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Punetha, Jaya Genetic modifiers in TGFβ pathway ... POSTER
Statistical Genetics and Genetic Epidemiology
1790T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Pupavac, Mihaela An infant with hyperhomocysteinemia, ... POSTER
Metabolic Disorders
2252M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Purmann, Carolin Complex mosaic chromosome rearrangement in ... POSTER
Cytogenetics
3184T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm

 

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