Program

 

Schedule
Trainees
Social Events
CME/CEU
Advocates Program
   

Congratulations to the 2011 Travel Award Winners

 



 

Name/
Presentation Date & Time
Session
Number
  Program
Number
  Society Room

Abbasi Moheb, L.     1100W  ICHG Young Investigator Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Mutations in the NSUN2 gene cause ...

Anttila, V. 39   162  ICHG Young Investigator Awards Room 510
Level 5
Thursday, 12:00 pm (Platform)
Meta-analysis of genome-wide association ...

Basu, A. 10   9  ICHG Young Investigator Awards Room 210
Level 2
Wednesday, 5:45 pm (Platform)
Recent admixture in an Indian population ...

Brezina, P. R. 33   110  ICHG Young Investigator Awards Room 517A
Level 5
Thursday, 11:00 am (Platform)
Human embryos with aneuploid cells ...

Brownstein, C. 15   47  ICHG Young Investigator Awards Room 511
Level 5
Wednesday, 5:15 pm (Platform)
An Internet-based approach to enhance ...

Buhas, D. C.     1313F  ICHG Young Investigator Awards Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Normal urinary methylmalonic acid does not ...

Buros, J.     555T  ICHG Young Investigator Awards Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
Genome-wide scan suggested novel Alzheimer ...

Carabalona, A.     573T  ICHG Young Investigator Awards Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
Impaired FLNA expression disrupts radial ...

Chen, R. 32   99  ICHG Young Investigator Awards Room 517D
Level 5
Thursday, 10:15 am (Platform)
Type 2 diabetes risk alleles show extreme ...

Collins, S.     1336T  ICHG Young Investigator Awards Exhibit Hall
Level 2
Thursday, 3:00 pm - 4:00 pm (Poster)
Does the CPT1A p.P479L variant confer risk ...

Cousminer, D. L.     662F  ICHG Young Investigator Awards Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
Genome-wide association meta-analysis of ...

Datta, R.     1458F  ICHG Young Investigator Awards Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
Abnormal autophagy in ...

Davidson, S. I.     405T  ICHG Young Investigator Awards Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
Next-generation sequencing of IL23R ...

de Klerk, E. 74   298  ICHG Young Investigator Awards Room 516
Level 5
Saturday, 2:45 pm (Platform)
Genome-wide poly(A) mapping reveals ...

Dolmans, G. H. C. G. 72   284  ICHG Young Investigator Awards Room 520
Level 5
Saturday, 3:15 pm (Platform)
Genome-wide association study finds 9 ...

Emile Chimusa, R. E. C. 72   277  ICHG Young Investigator Awards Room 520
Level 5
Saturday, 1:30 pm (Platform)
Genome-wide association study of TB in the ...

Evangelou, M.     693T  ICHG Young Investigator Awards Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
Bayesian hierarchical modeling of SNPs and ...

Fava, V. M.     652W  ICHG Young Investigator Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Genetic and serologic evidence implicate ...

Gaál, E. I. 57   217  ICHG Young Investigator Awards Room 516
Level 5
Friday, 5:45 pm (Platform)
Intracranial aneurysm risk locus 5q23.2 is ...

Girard, S. L.     558W  ICHG Young Investigator Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Increased exonic de novo mutation rate in ...

Gordon, C.     1420T  ICHG Young Investigator Awards Exhibit Hall
Level 2
Thursday, 3:00 pm - 4:00 pm (Poster)
Consequences of gain-of-function mutations ...

Guo, Q. 58   223  ICHG Young Investigator Awards Room 710A
Level 7
Friday, 5:15 pm (Platform)
Investigating Alzheimer’s disease ...

Hanna, C. W.     1444W  ICHG Young Investigator Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
No evidence for aberrant placental DNA ...

Harris, J. N.     1349T  ICHG Young Investigator Awards Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
The Kaiser Permanente Research Program on ...

Hause, R. J. 52   173  ICHG Young Investigator Awards Room 517BC
Level 5
Friday, 4:45 pm (Platform)
The role of genetic variation underlying ...

He, X.     1330F  ICHG Young Investigator Awards Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
Characterization of surfactant secretion ...

Hui, L. 33   113  ICHG Young Investigator Awards Room 517A
Level 5
Thursday, 11:45 am (Platform)
Fetal brain-specific transcripts are ...

Idaghdour, Y. 34   119  ICHG Young Investigator Awards Room 520
Level 5
Thursday, 11:15 am (Platform)
Mining the transcriptomes of ...

Inouye, M. 56   206  ICHG Young Investigator Awards Room 511
Level 5
Friday, 5:00 pm (Platform)
Multivariate genetic analysis of ...

Kanoni, S. 19   75  ICHG Young Investigator Awards Room 510
Level 5
Wednesday, 4:15 pm (Platform)
Multiple novel loci conferring risk to ...

Klootwijk, E.     1135W  ICHG Young Investigator Awards Exhibit Hall
Level 2
Wednesday, 2:00 pm - 3:00 pm (Poster)
Mitochondrial mistargeting causes ...

Leblond, C. S.     533F  ICHG Young Investigator Awards Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Genetic and functional analyses of SHANK2 ...

Lee, C.     1226F  ICHG Young Investigator Awards Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
Genes with novel SNPs and indels in the ...

Leitsalu, L. 76   311  ICHG Young Investigator Awards Room 710B
Level 7
Saturday, 2:00 pm (Platform)
Estonian public attitude towards and ...

Letourneau, A. 14   39  ICHG Young Investigator Awards Room 520
Level 5
Wednesday, 5:15 pm (Platform)
Trisomy 21: A disease of chromatin ...

Malicdan, M. C.     1295W  ICHG Young Investigator Awards Exhibit Hall
Level 2
Wednesday, 2:00 pm - 3:00 pm (Poster)
Identification of a novel cause of ...

Mullegama, S. V. 12   24  ICHG Young Investigator Awards Room 517D
Level 5
Wednesday, 5:30 pm (Platform)
Mutation or deletion of the epigenetic ...

Nevalainen, E.     902W  ICHG Young Investigator Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
High resolution map of canine copy number ...

Nikolaev, S. 36   135  ICHG Young Investigator Awards Room 516
Level 5
Thursday, 11:15 am (Platform)
Melanoma exome sequencing identifies ...

Nudel, R. 39   160  ICHG Young Investigator Awards Room 510
Level 5
Thursday, 11:30 am (Platform)
Exome sequencing of an isolated Chilean ...

Palin, K. 34   116  ICHG Young Investigator Awards Room 520
Level 5
Thursday, 10:30 am (Platform)
Near complete characterization of genetic ...

Pettigrew, K. A. 38   152  ICHG Young Investigator Awards Room 710B
Level 7
Thursday, 11:30 am (Platform)
Pharmacogenetic genome-wide association ...

Pique-Regi, R.     876F  ICHG Young Investigator Awards Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
Variation in transcription factor activity ...

Qin, S. 38   153  ICHG Young Investigator Awards Room 710B
Level 7
Thursday, 11:45 am (Platform)
Personalized medicine study of Chinese ...

Radpour, R.     1224T  ICHG Young Investigator Awards Exhibit Hall
Level 2
Thursday, 3:00 pm - 4:00 pm (Poster)
Integrated epigenetics of human breast ...

Rebelo, A. P. 39   155  ICHG Young Investigator Awards Room 510
Level 5
Thursday, 10:15 am (Platform)
Reticulon mutations in hereditary spastic ...

Regalado, E. S. 57   215  ICHG Young Investigator Awards Room 516
Level 5
Friday, 5:15 pm (Platform)
Exome sequencing identifies SMAD3 ...

Ripke, S.     560F  ICHG Young Investigator Awards Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
GWAS analysis across five psychiatric ...

Rouf, R.     1131W  ICHG Young Investigator Awards Exhibit Hall
Level 2
Wednesday, 2:00 pm - 3:00 pm (Poster)
Novel insights regarding the mechanism and ...

Schuurs-Hoeijmakers, J. H. M. 30   86  ICHG Young Investigator Awards Room 210
Level 2
Thursday, 11:00 am (Platform)
Massive parallel sequencing of all human ...

Segurel, L. 32   103  ICHG Young Investigator Awards Room 517D
Level 5
Thursday, 11:15 am (Platform)
The remarkable evolution of ABO in ...

Settembre, C.     1325T  ICHG Young Investigator Awards Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
TFEB links autophagy to lysosomal ...

Shibata, Y.     834W  ICHG Young Investigator Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Extensive evolutionary changes in ...

Sidore, C. 54   188  ICHG Young Investigator Awards Room 517A
Level 5
Friday, 4:30 pm (Platform)
Whole genome sequencing of 1000 ...

Sulonen, A.-M. 70   266  ICHG Young Investigator Awards Room 517D
Level 5
Saturday, 2:45 pm (Platform)
Exome sequencing to determine genome-wide ...

Thevenon, J.     1027T  ICHG Young Investigator Awards Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
3p13p14.1 Deletion: A new microdeletional ...

Thomas, S.     1158W  ICHG Young Investigator Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
KIF7 (Costal2) mutations cause fetal ...

Timpson, N. J.     463F  ICHG Young Investigator Awards Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Novel coding variation at TYRP1 explains a ...

Vanakker, O.     1111F  ICHG Young Investigator Awards Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
BMP2-Smad-Runx2 overexpression provides ...

Vasseur, E.     494W  ICHG Young Investigator Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Evolutionary genetics evidence for strong ...

Wang, J.     788T  ICHG Young Investigator Awards Exhibit Hall
Level 2
Thursday, 3:00 pm - 4:00 pm (Poster)
Mutations in ZBTB24 are associated with ...

Wong, S. P.     923T  ICHG Young Investigator Awards Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
Genetic modification of cancer cells using ...

Ye, K.     877T  ICHG Young Investigator Awards Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
Whole genome sequencing of one 100-year ...

Ahmad, J.     1178W  ICHG Developing Country Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Detection of BRCA1 and BRCA2 mutations by ...

Anumudu, C. I.     372F  ICHG Developing Country Awards Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
Genetic polymorphisms associated with ...

Ben Abdallah Bouhjar, I.     1267F  ICHG Developing Country Awards Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Subtelomeric rearrangements in a cohort of ...

Daroy, M. L. G.     378T  ICHG Developing Country Awards Exhibit Hall
Level 2
Thursday, 3:00 pm - 4:00 pm (Poster)
Adiponectin SNPs do not associate with ...

Esmaeilzadeh Gharehdaghi, E.     580F  ICHG Developing Country Awards Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
Evolution of cognition in humans is linked ...

Gombojav, B.     371W  ICHG Developing Country Awards Exhibit Hall
Level 2
Wednesday, 2:00 pm - 3:00 pm (Poster)
Genome-wide association study for resting ...

Gribaa, M.     1298W  ICHG Developing Country Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Association between a new 3216-3217 delGA ...

Haerian, B. S.     1250W  ICHG Developing Country Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Association of 8q24.21 locus with the risk ...

Heidari, A.     383F  ICHG Developing Country Awards Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
The human caveolin 1 gene upstream purine ...

Jantararoungtong, T.     1369F  ICHG Developing Country Awards Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Association of CYP2D6 polymorphisms and ...

Jin, W.     458W  ICHG Developing Country Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Characterizing genes associated with both ...

Kilani, O.     1278W  ICHG Developing Country Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Cytogenetic screening for female ...

Mili, A.     1291T  ICHG Developing Country Awards Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
Biochemical and molecular characterization ...

Mistri, M.     1322W  ICHG Developing Country Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Identification of novel mutations in HEXA ...

Mocan, E.     379F  ICHG Developing Country Awards Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Genetic susceptibility to ischemic stroke ...

Moreno-Ramos, O. A.     386W  ICHG Developing Country Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Modeling of the interaction between the ...

Neogi, A.     1046T  ICHG Developing Country Awards Exhibit Hall
Level 2
Thursday, 3:00 pm - 4:00 pm (Poster)
Genetic counseling: An analysis of ...

Rohban, S.     1232T  ICHG Developing Country Awards Exhibit Hall
Level 2
Thursday, 3:00 pm - 4:00 pm (Poster)
Elucidation of the role of miR-302 in the ...

Shahhoseini, M.     1422W  ICHG Developing Country Awards Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
G5508A polymorphism of the Sept12 gene may ...

Shahin, H. 71   271  ICHG Developing Country Awards Room 517A
Level 5
Saturday, 2:00 pm (Platform)
Gene discovery for schizophrenia by exome ...

Sharma, S.     1075T  ICHG Developing Country Awards Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
NPHS2, NPHS1 and WT1 mutations in Indian ...

Timbuak, J. A.     922F  ICHG Developing Country Awards Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
Rapid DNA extraction from human buccal ...

Tripathi, P.     1042F  ICHG Developing Country Awards Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
Association of ADAM33 gene polymorphisms ...

Wonkam, A.     1390T  ICHG Developing Country Awards Exhibit Hall
Level 2
Thursday, 3:00 pm - 4:00 pm (Poster)
Inauguration of a program for disorders of ...

Wu, X.     1099W  ICHG Developing Country Awards Exhibit Hall
Level 2
Wednesday, 2:00 pm - 3:00 pm (Poster)
Multiple synostoses syndrome is due to a ...

Almontashiri, N. A. M. 19   82  ASHG Room 510
Level 5
Wednesday, 6:00 pm (Platform)
The 9p21.3 coronary artery disease risk ...

Batra, J. 77   317  ASHG Room 510
Level 5
Saturday, 1:30 pm (Platform)
A replication study examining novel common ...

Bhatia, G. 32   101  ASHG Room 517D
Level 5
Thursday, 10:45 am (Platform)
Genome-wide comparison of African-ancestry ...

Blekhman, R.     510F  ASHG Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
Identification of coding variants and gene ...

Bowen, B. M. P.     446W  ASHG Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Haplotype diversity and linkage ...

Bronson, P. G. 10   10  ASHG Room 210
Level 2
Wednesday, 6:00 pm (Platform)
A sequence-based approach to investigating ...

Bryc, K.     489T  ASHG Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
Estimating heterozygosity rates of ...

Cain, C. E.     473W  ASHG Exhibit Hall
Level 2
Wednesday, 2:00 pm - 3:00 pm (Poster)
A comparative study of genetic and ...

Campbell, C. A.     1079W  ASHG Exhibit Hall
Level 2
Wednesday, 2:00 pm - 3:00 pm (Poster)
AQP4 and syndromic Menière’s disease. ...

Carrillo-Carrasco, N.*     1467F  ASHG Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Current treatment and outcome of infantile ...

Carvajal-Carmona, L. G. 77   321  ASHG Room 510
Level 5
Saturday, 2:30 pm (Platform)
Most, but not all, common risk alleles for ...

Casadei, S. 51   166  ASHG Room 210
Level 2
Friday, 5:00 pm (Platform)
Evaluation of transcripts generated by ...

Castellani, C.     571F  ASHG Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Complete genome sequence based genetic ...

Celestino-Soper, P. B. S. 30   83  ASHG Room 210
Level 2
Thursday, 10:15 am (Platform)
A novel and common X-linked inborn error ...

Chaki, M. 53   180  ASHG Room 517D
Level 5
Friday, 4:30 pm (Platform)
Exome capture reveals mutations in CEP164 ...

Cukier, H. N. 12   21  ASHG Room 517D
Level 5
Wednesday, 4:45 pm (Platform)
Whole exome sequencing identifies novel ...

Davidsson, J.*     753W  ASHG Exhibit Hall
Level 2
Wednesday, 2:00 pm - 3:00 pm (Poster)
Epigenetics and genomics of constitutional ...

Dennis, M. Y.* 32   102  ASHG Room 517D
Level 5
Thursday, 11:00 am (Platform)
The evolution of SRGAP2: A gene ...

Doyle, A. 57   214  ASHG Room 516
Level 5
Friday, 5:00 pm (Platform)
A major modifier locus for vascular ...

El-Hattab, A.     1470F  ASHG Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
Restoration of impaired nitric oxide ...

French, V.*     1129W  ASHG Exhibit Hall
Level 2
Wednesday, 2:00 pm - 3:00 pm (Poster)
NPHP4 variants are associated with ...

Galloway, J. N.*     501T  ASHG Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
Translational profiling mouse models of ...

Garcia-Perez, J.     850W  ASHG Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Pluripotent human cells differ in their ...

Gerber, E. E.* 37   139  ASHG Room 710A
Level 7
Thursday, 10:15 am (Platform)
Treating stiff skin syndrome: Study of a ...

Girirajan, S.     851W  ASHG Exhibit Hall
Level 2
Wednesday, 2:00 pm - 3:00 pm (Poster)
Using the repeat architecture to discover ...

Harvard, C.     784W  ASHG Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Functional characterization of the 2p15-16 ...

Hoffman, J. D.     780T  ASHG Exhibit Hall
Level 2
Thursday, 3:00 pm - 4:00 pm (Poster)
BAC-based small-molecule screen to ...

Homan, E.     1144F  ASHG Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
Mutations in SERPINF1 cause osteogenesis ...

Humphries, C. E. 56   203  ASHG Room 511
Level 5
Friday, 4:15 pm (Platform)
Analysis of noncoding RNA expression in ...

Jeffries, A. R. 55   201  ASHG Room 520
Level 5
Friday, 5:45 pm (Platform)
Stochastic choice of allelic expression in ...

Jordan, C. T. 17   59  ASHG Room 710A
Level 7
Wednesday, 4:15 pm (Platform)
Rare de novo and common variations ...

Jordan, D.     436W  ASHG Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Compensatory amino acid changes as a ...

Jostins, L.* 69   260  ASHG Room 517BC
Level 5
Saturday, 3:15 pm (Platform)
Disease risk prediction to prioritize ...

Kaushik, P. M. 60   237  ASHG Room 510
Level 5
Friday, 4:45 pm (Platform)
The attitudes and opinions of genetic ...

Kompass, K. S. 16   56  ASHG Room 516
Level 5
Wednesday, 5:30 pm (Platform)
Simultaneous clustering and significance ...

Kousi, M. 71   274  ASHG Room 517A
Level 5
Saturday, 2:45 pm (Platform)
Homozygosity mapping and new generation ...

Landoure, G. 39   156  ASHG Room 510
Level 5
Thursday, 10:30 am (Platform)
Mutation in C19orf12 causes hereditary ...

Lappalainen, T.     483F  ASHG Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Epistatic selection between coding and ...

Liu, P. 14   42  ASHG Room 520
Level 5
Wednesday, 6:00 pm (Platform)
Ectopic synapsis as a mediator of ectopic ...

Luca, F.     1433F  ASHG Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Molecular mechanisms underlying ...

Lupton, M. K. 58   220  ASHG Room 710A
Level 7
Friday, 4:30 pm (Platform)
Resequencing of the complement gene ...

MacArthur, D. G.* 11   12  ASHG Room 517BC
Level 5
Wednesday, 4:30 pm (Platform)
Dysfunction is the normal state: Analysis ...

McDonald, M. N. 57   213  ASHG Room 516
Level 5
Friday, 4:45 pm (Platform)
FBN1 susceptibility loci associated with ...

Meng, L.     747T  ASHG Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
The role of Ube3a-ATS in Ube3a imprinting ...

Nagy, C.     748T  ASHG Exhibit Hall
Level 2
Thursday, 3:00 pm - 4:00 pm (Poster)
High resolution methylation map in suicide ...

Nguyen-Dumont, T.     1212T  ASHG Exhibit Hall
Level 2
Thursday, 3:00 pm - 4:00 pm (Poster)
Early insights from whole-exome analysis ...

Oksenberg, N.* 12   22  ASHG Room 517D
Level 5
Wednesday, 5:00 pm (Platform)
Characterization of the function and ...

Oliver, T. 35   128  ASHG Room 511
Level 5
Thursday, 11:30 am (Platform)
Patterns of recombination along ...

Onoufriadis, A. 17   61  ASHG Room 710A
Level 7
Wednesday, 4:45 pm (Platform)
Exome sequencing identifies rare recessive ...

Pai, A. A.* 52   175  ASHG Room 517BC
Level 5
Friday, 5:15 pm (Platform)
The genetic basis of inter-individual ...

Pansuriya, T.     1073F  ASHG Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Mutations in gene X cause enchondroma ...

Pereira, E.     1049F  ASHG Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Results and experiences involving ...

Prokopenko, I. 56   209  ASHG Room 511
Level 5
Friday, 5:45 pm (Platform)
Search for novel susceptibility loci for ...

Reich, A.* 33   112  ASHG Room 517A
Level 5
Thursday, 11:30 am (Platform)
The transcriptome of a human polar body ...

Riviere, J. B.* 30   85  ASHG Room 210
Level 2
Thursday, 10:45 am (Platform)
Exome sequencing implicates de novo ...

Sankararaman, S. 32   106  ASHG Room 517D
Level 5
Thursday, 12:00 pm (Platform)
Dating ancient admixture: The date of gene ...

Sengupta, S.     349T  ASHG Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
Metabochip meta-analysis of >190,000 ...

Shaheen, R. 75   303  ASHG Room 710A
Level 7
Saturday, 2:00 pm (Platform)
Recessive mutations in the guanidine ...

Sheridan, M. B. 57   218  ASHG Room 516
Level 5
Friday, 6:00 pm (Platform)
The 22q11.2 deletion syndrome: Second hit ...

Simpson, M. A.     1077F  ASHG Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Mutations in NOTCH2 cause Hajdu Cheney ...

Smith, R. P.     877F  ASHG Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Deciphering the vertebrate regulatory code ...

Soi, S. 32   100  ASHG Room 517D
Level 5
Thursday, 10:30 am (Platform)
Demographic histories of African ...

Spurrell, C. 51   167  ASHG Room 210
Level 2
Friday, 5:15 pm (Platform)
Discovery of new genes for inherited ...

Stark, A. L.*     1422F  ASHG Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
Transcription factor protein levels ...

Sun, J. X. 10   7  ASHG Room 210
Level 2
Wednesday, 5:15 pm (Platform)
A direct characterization of human ...

Swaminathan, S.     596W  ASHG Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Analysis of copy number variation in ...

Szymanski, M.* 58   222  ASHG Room 710A
Level 7
Friday, 5:00 pm (Platform)
Alzheimer's risk variants in the CLU gene ...

Talkowski, M. E. 35   126  ASHG Room 511
Level 5
Thursday, 11:00 am (Platform)
Sequencing chromosomal rearrangements in ...

Trynka, G.* 72   280  ASHG Room 520
Level 5
Saturday, 2:15 pm (Platform)
Independent rare and common variants ...

Tsoi, L.     815F  ASHG Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Large-scale transcriptome analysis using ...

Urrutia, E. 69   254  ASHG Room 517BC
Level 5
Saturday, 1:45 pm (Platform)
A unified strategy for rare variant ...

Vilboux, T.* 18   67  ASHG Room 710B
Level 7
Wednesday, 4:15 pm (Platform)
NBEAL2 is mutated in gray platelet ...

Vlangos, C. N.*     1443T  ASHG Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
Identification of the Danforth’s ...

Wen, S.* 55   196  ASHG Room 520
Level 5
Friday, 4:30 pm (Platform)
Dissecting the role of NLRP7 in regulation ...

Wheeler, H. E. 38   147  ASHG Room 710B
Level 7
Thursday, 10:15 am (Platform)
Pharmacogenomics of paclitaxel-induced ...

Williams, A. 31   92  ASHG Room 517BC
Level 5
Thursday, 10:30 am (Platform)
Phasing of many thousands of genotyped ...

Zaitlen, N. 56   204  ASHG Room 511
Level 5
Friday, 4:30 pm (Platform)
Components of heritability in an Icelandic ...

Zhang, J. G. 34   118  ASHG Room 520
Level 5
Thursday, 11:00 am (Platform)
Comprehensive characterization of human ...

Zode, G. 74   300  ASHG Room 516
Level 5
Saturday, 3:15 pm (Platform)
Development and pharmacological rescue of ...

Allebrandt, K. 67   244  ESHG Room 210
Level 2
Saturday, 12:10 pm (Plenary)
A gene involved in metabolism modulates ...

Cordier, C. 76   309  ESHG Room 710B
Level 7
Saturday, 1:30 pm (Platform)
Genetic counsellor education and ...

Hehir-Kwa, J. Y.     1082T  ESHG Exhibit Hall
Level 2
Thursday, 3:00 pm - 4:00 pm (Poster)
De novo copy number variants associated to ...

Holstege, H. 54   191  ESHG Room 517A
Level 5
Friday, 5:15 pm (Platform)
A longevity reference genome generated ...

Mehta, D.     601W  ESHG Exhibit Hall
Level 2
Wednesday, 2:00 pm - 3:00 pm (Poster)
Peripheral blood expression profiles act ...

Morley, K. I.     722T  ESHG Exhibit Hall
Level 2
Thursday, 3:00 pm - 4:00 pm (Poster)
ROSELLA: Region Oriented Stringent ...

Musani, V.     1203F  ESHG Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Genetic testing for BRCA1 and BRCA2 ...

Negura, L.     1220F  ESHG Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
Description of BRCA mutations, UVs, SNPs ...

Nowakowska, B. A.     1147F  ESHG Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Targeted re-sequencing of the remaining ...

Stayner, B.     1063W  ESHG Exhibit Hall
Level 2
Wednesday, 2:00 pm - 3:00 pm (Poster)
U.K. recognition of international genetic ...

Vergult, S.     1263F  ESHG Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Complex genetics of radial ray ...

Kaiser, F. J. 13   28  GfH Room 517A
Level 5
Wednesday, 4:30 pm (Platform)
Mutations in RAD21 as a cause of a new ...

Klopocki, E. 68   245  GfH Room 210
Level 2
Saturday, 1:30 pm (Platform)
Non-Mendelian inheritance in ...

Ludwig, K. U. 58   225  GfH Room 710A
Level 7
Friday, 5:45 pm (Platform)
A common variant in myosin-18B contributes ...

Corbett, M.     1152T  HGSA Exhibit Hall
Level 2
Thursday, 3:00 pm - 4:00 pm (Poster)
Mutation in STXBP5L in a novel ...

Dagar, V. 55   198  HGSA Room 520
Level 5
Friday, 5:00 pm (Platform)
Factors playing a role in epigenetic ...

O'Mara, T. A.     1228F  HGSA Exhibit Hall
Level 2
Friday, 3:00 pm - 4:00 pm (Poster)
A genome-wide association study to ...

Tom, M.     1350W  HGSA Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Statewide genetic services patient ...

Abe, Y. 13   30  JSHG Room 517A
Level 5
Wednesday, 5:00 pm (Platform)
Epidemiological features of Costello ...

Danjoh, I.     493T  JSHG Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
Genomic stability of B lymphoblastoid cell ...

Fuke-Sato, T.     759T  JSHG Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
Silver-Russell syndrome : Phenotypic ...

Hosoki, K.     1023W  JSHG Exhibit Hall
Level 2
Wednesday, 2:00 pm - 3:00 pm (Poster)
5q31.3 Microdeletion syndrome is a ...

Ishiura, H.     1107W  JSHG Exhibit Hall
Level 2
Wednesday, 2:00 pm - 3:00 pm (Poster)
Massively parallel sequence analysis ...

Kitajima, H.     339F  JSHG Exhibit Hall
Level 2
Friday, 2:00 pm - 3:00 pm (Poster)
Smoking modifies the effect of lipoprotein ...

Okada, Y. 72   282  JSHG Room 520
Level 5
Saturday, 2:45 pm (Platform)
Genetic pleiotropy in the ...

Shimojima, K.     1285T  JSHG Exhibit Hall
Level 2
Thursday, 2:00 pm - 3:00 pm (Poster)
A new microdeletion syndrome of 5q31.3 ...

Teshiba, R. 17   66  JSHG Room 710A
Level 7
Wednesday, 6:00 pm (Platform)
A mutation in KEAP1 causes familial ...

Bombard, Y.     1359W  University of Toronto McLaughlin Centre Award Exhibit Hall
Level 2
Wednesday, 2:00 pm - 3:00 pm (Poster)
Citizens’ values regarding expanded ...

Dida, J. 39   161  University of Toronto McLaughlin Centre Award Room 510
Level 5
Thursday, 11:45 am (Platform)
Duplication of GTF2I results in separation ...

Pang, A. W. C. 11   17  University of Toronto McLaughlin Centre Award Room 517BC
Level 5
Wednesday, 5:45 pm (Platform)
Identification and characterization of ...

Pinto, D. 11   15  University of Toronto McLaughlin Centre Award Room 517BC
Level 5
Wednesday, 5:15 pm (Platform)
Impact of rare copy number variation in ...

Rafiq, M. A.     568W  University of Toronto McLaughlin Centre Award Exhibit Hall
Level 2
Wednesday, 3:00 pm - 4:00 pm (Poster)
Homozygosity mapping in 7 Pakistani ...

Sato, D. 12   23  University of Toronto McLaughlin Centre Award Room 517D
Level 5
Wednesday, 5:15 pm (Platform)
Mutations in the SHANK1 synaptic ...

Yilmaz, Y. E. 69   259  University of Toronto McLaughlin Centre Award Room 517BC
Level 5
Saturday, 3:00 pm (Platform)
Rare variant analysis in genetic ...