|PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations|
JC Denny, MD Ritchie, MA Basford, JM Pulley, L Bastarache, ...
Bioinformatics 26 (9), 1205-1210, 2010
|Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data|
JC Denny, L Bastarache, MD Ritchie, RJ Carroll, R Zink, JD Mosley, ...
Nature biotechnology 31 (12), 1102-1111, 2013
|The electronic medical records and genomics (eMERGE) network: past, present, and future|
O Gottesman, H Kuivaniemi, G Tromp, WA Faucett, R Li, TA Manolio, ...
Genetics in Medicine 15 (10), 761-771, 2013
|Variants Near FOXE1 Are Associated with Hypothyroidism and Other Thyroid Conditions: Using Electronic Medical Records for Genome- and Phenome-wide Studies|
JC Denny, DC Crawford, MD Ritchie, SJ Bielinski, MA Basford, Y Bradford, ...
The American Journal of Human Genetics 89 (4), 529-542, 2011
|The phenotypic legacy of admixture between modern humans and Neandertals|
CN Simonti, B Vernot, L Bastarache, E Bottinger, DS Carrell, RL Chisholm, ...
Science 351 (6274), 737-741, 2016
|Cardiovascular toxicities associated with immune checkpoint inhibitors: an observational, retrospective, pharmacovigilance study|
JE Salem, A Manouchehri, M Moey, B Lebrun-Vignes, L Bastarache, ...
The Lancet Oncology 19 (12), 1579-1589, 2018
|Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies|
W Zhou, JB Nielsen, LG Fritsche, R Dey, ME Gabrielsen, BN Wolford, ...
Nature genetics 50 (9), 1335-1341, 2018
|Genome-and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk|
MD Ritchie, JC Denny, RL Zuvich, DC Crawford, JS Schildcrout, ...
Circulation 127 (13), 1377-1385, 2013
|R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment|
RJ Carroll, L Bastarache, JC Denny
Bioinformatics 30 (16), 2375-2376, 2014
|Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity|
V Turcot, Y Lu, HM Highland, C Schurmann, AE Justice, RS Fine, ...
Nature genetics 50 (1), 26-41, 2018
|Phenome-wide association studies as a tool to advance precision medicine|
JC Denny, L Bastarache, DM Roden
Annual review of genomics and human genetics 17, 353-373, 2016
|A genome-and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects|
K Shameer, JC Denny, K Ding, H Jouni, DR Crosslin, M De Andrade, ...
Human genetics 133 (1), 95-109, 2014
|Phenotype risk scores identify patients with unrecognized Mendelian disease patterns|
L Bastarache, JJ Hughey, S Hebbring, J Marlo, W Zhao, WT Ho, ...
Science 359 (6381), 1233-1239, 2018
|Development and evaluation of an ensemble resource linking medications to their indications|
WQ Wei, RM Cronin, H Xu, TA Lasko, L Bastarache, JC Denny
Journal of the American Medical Informatics Association 20 (5), 954-961, 2013
|Joint mouse–human phenome-wide association to test gene function and disease risk|
X Wang, AK Pandey, MK Mulligan, EG Williams, K Mozhui, Z Li, ...
Nature communications 7 (1), 1-13, 2016
|Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record|
WQ Wei, LA Bastarache, RJ Carroll, JE Marlo, TJ Osterman, ER Gamazon, ...
PloS one 12 (7), e0175508, 2017
|TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits|
D Diogo, L Bastarache, KP Liao, RR Graham, RS Fulton, JD Greenberg, ...
PloS one 10 (4), e0122271, 2015
|Extracting timing and status descriptors for colonoscopy testing from electronic medical records|
JC Denny, JF Peterson, NN Choma, H Xu, RA Miller, L Bastarache, ...
Journal of the American Medical Informatics Association 17 (4), 383-388, 2010
|Integrating existing natural language processing tools for medication extraction from discharge summaries|
S Doan, L Bastarache, S Klimkowski, JC Denny, H Xu
Journal of the American Medical Informatics Association 17 (5), 528-531, 2010
|Genetics of glucocorticoid-associated osteonecrosis in children with acute lymphoblastic leukemia|
SE Karol, W Yang, SL Van Driest, TY Chang, S Kaste, E Bowton, ...
Blood, The Journal of the American Society of Hematology 126 (15), 1770-1776, 2015