|Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations|
BJ O’Roak, L Vives, S Girirajan, E Karakoc, N Krumm, BP Coe, R Levy, ...
Nature 485 (7397), 246-250, 2012
|Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders|
BJ O’Roak, L Vives, W Fu, JD Egertson, IB Stanaway, IG Phelps, G Carvill, ...
Science 338 (6114), 1619-1622, 2012
|A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose|
GM Cooper, JA Johnson, TY Langaee, H Feng, IB Stanaway, UI Schwarz, ...
Blood, The Journal of the American Society of Hematology 112 (4), 1022-1027, 2008
|Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue|
F Innocenti, GM Cooper, IB Stanaway, ER Gamazon, JD Smith, S Mirkov, ...
PLoS genetics 7 (5), e1002078, 2011
|GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network|
B Namjou, T Lingren, Y Huang, S Parameswaran, BL Cobb, IB Stanaway, ...
BMC medicine 17 (1), 1-19, 2019
|Harmonizing clinical sequencing and interpretation for the eMERGE III network|
H Zouk, E Venner, NJ Lennon, DM Muzny, D Abrams, S Adunyah, ...
The American Journal of Human Genetics 105 (3), 588-605, 2019
|Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free …|
DS Kim, JH Kim, AA Burt, DR Crosslin, N Burnham, CE Kim, ...
The Journal of thoracic and cardiovascular surgery 151 (4), 1147-1151. e4, 2016
|Direct detection of null alleles in SNP genotyping data|
CS Carlson, JD Smith, IB Stanaway, MJ Rieder, DA Nickerson
Human molecular genetics 15 (12), 1931-1937, 2006
|Genetic candidate variants in two multigenerational families with childhood apraxia of speech|
B Peter, EM Wijsman, AQ Nato Jr, ...
PloS one 11 (4), e0153864, 2016
|IGF1R variants associated with isolated single suture craniosynostosis|
ML Cunningham, JA Horst, MJ Rieder, AV Hing, IB Stanaway, SS Park, ...
American Journal of Medical Genetics Part A 155 (1), 91-97, 2011
|The environmental genome project: reference polymorphisms for drug metabolism genes and genome-wide association studies|
MJ Rieder, RJ Livingston, IB Stanaway, DA Nickerson
Drug metabolism reviews 40 (2), 241-261, 2008
|The eMERGE genotype set of 83,717 subjects imputed to~ 40 million variants genome wide and association with the herpes zoster medical record phenotype|
IB Stanaway, TO Hall, EA Rosenthal, M Palmer, V Naranbhai, R Knevel, ...
Genetic epidemiology 43 (1), 63-81, 2019
|An atlas of genetic variation linking pathogen-induced cellular traits to human disease|
L Wang, KJ Pittman, JR Barker, RE Salinas, IB Stanaway, GD Williams, ...
Cell host & microbe 24 (2), 308-323. e6, 2018
|Patient genotypes impact survival after surgery for isolated congenital heart disease|
DS Kim, JH Kim, AA Burt, DR Crosslin, N Burnham, ...
The Annals of thoracic surgery 98 (1), 104-111, 2014
|Association of rare missense variants in the second intracellular loop of Na v 1.7 sodium channels with familial autism|
M Rubinstein, A Patowary, IB Stanaway, E McCord, RR Nesbitt, M Archer, ...
Molecular psychiatry 23 (2), 231-239, 2018
|Genome-wide modeling of polygenic risk score in colorectal cancer risk|
M Thomas, LC Sakoda, M Hoffmeister, EA Rosenthal, JK Lee, ...
The American Journal of Human Genetics 107 (3), 432-444, 2020
|Frequency of genomic incidental findings among 21,915 eMERGE network participants|
AS Gordon, H Zouk, E Venner, CM Eng, BH Funke, LM Amendola, ...
Genetics in medicine: official journal of the American College of Medical …, 2020
|Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel|
T Chiang, X Liu, TJ Wu, J Hu, FJ Sedlazeck, S White, D Schaid, ...
Genetics in Medicine 21 (9), 2135-2144, 2019
|A polygenic and phenotypic risk prediction for polycystic ovary syndrome evaluated by phenome-wide association studies|
YY Joo, KE Actkins, JA Pacheco, AO Basile, R Carroll, DR Crosslin, F Day, ...
The Journal of Clinical Endocrinology & Metabolism 105 (6), 1918-1936, 2020
|A genome-wide association study of polycystic ovary syndrome identified from electronic health records|
Y Zhang, K Ho, JM Keaton, DN Hartzel, F Day, AE Justice, NS Josyula, ...
American journal of obstetrics and gynecology 223 (4), 559. e1-559. e21, 2020