| 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 | 1133 | 2010 |
| 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 | 990 | 2018 |
| 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 | 978 | 2013 |
| 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 | 845 | 2018 |
| 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 | 585 | 2013 |
| Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease Myocardial Infarction Genetics Consortium Investigators New England Journal of Medicine 371 (22), 2072-2082, 2014 | 464 | 2014 |
| 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 | 362 | 2014 |
| 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 | 347 | 2016 |
| Mapping ICD-10 and ICD-10-CM codes to phecodes: workflow development and initial evaluation P Wu, A Gifford, X Meng, X Li, H Campbell, T Varley, J Zhao, R Carroll, ... JMIR medical informatics 7 (4), e14325, 2019 | 330 | 2019 |
| 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 | 324 | 2018 |
| 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 | 302 | 2017 |
| 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 | 297 | 2011 |
| 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 | 223 | 2016 |
| Exploiting the GTEx resources to decipher the mechanisms at GWAS loci AN Barbeira, R Bonazzola, ER Gamazon, Y Liang, YS Park, ... Genome biology 22, 1-24, 2021 | 199 | 2021 |
| 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 | 194 | 2013 |
| 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 | 192 | 2018 |
| Stroke genetics informs drug discovery and risk prediction across ancestries A Mishra, R Malik, T Hachiya, T Jürgenson, S Namba, DC Posner, ... Nature 611 (7934), 115-123, 2022 | 170 | 2022 |
| 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, 95-109, 2014 | 159 | 2014 |
| 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), 10464, 2016 | 148 | 2016 |
| TYK2 Protein-Coding Variants Protect against Rheumatoid Arthritis and Autoimmunity, with No Evidence of Major Pleiotropic Effects on Non-Autoimmune Complex … D Diogo, L Bastarache, KP Liao, RR Graham, RS Fulton, JD Greenberg, ... PloS one 10 (4), e0122271, 2015 | 136 | 2015 |
