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 | 1007 | 2013 |
Predictive accuracy of a polygenic risk score compared with a clinical risk score for incident coronary heart disease JD Mosley, DK Gupta, J Tan, J Yao, QS Wells, CM Shaffer, S Kundu, ... Jama 323 (7), 627-635, 2020 | 287 | 2020 |
Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease EK Silverman, LJ Palmer, JD Mosley, M Barth, JM Senter, A Brown, ... The American Journal of Human Genetics 70 (5), 1229-1239, 2002 | 275 | 2002 |
FOXA1 is an essential determinant of ERα expression and mammary ductal morphogenesis GM Bernardo, KL Lozada, JD Miedler, G Harburg, SC Hewitt, JD Mosley, ... Development 137 (12), 2045-2054, 2010 | 268 | 2010 |
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 | 198 | 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 | 197 | 2013 |
Screening for Acute IKr Block Is Insufficient to Detect Torsades de Pointes Liability: Role of Late Sodium Current T Yang, YW Chun, DM Stroud, JD Mosley, BC Knollmann, C Hong, ... Circulation 130 (3), 224-234, 2014 | 167 | 2014 |
Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes EK Silverman, JD Mosley, LJ Palmer, M Barth, JM Senter, A Brown, ... Human molecular genetics 11 (6), 623-632, 2002 | 164 | 2002 |
Biobanks and electronic medical records: enabling cost-effective research E Bowton, JR Field, S Wang, JS Schildcrout, SL Van Driest, JT Delaney, ... Science translational medicine 6 (234), 234cm3-234cm3, 2014 | 141 | 2014 |
Towards quality assurance and quality control in untargeted metabolomics studies RD Beger, WB Dunn, A Bandukwala, B Bethan, D Broadhurst, CB Clish, ... Metabolomics 15, 1-5, 2019 | 132 | 2019 |
Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants JH Karnes, L Bastarache, CM Shaffer, S Gaudieri, Y Xu, AM Glazer, ... Science Translational Medicine 9 (389), eaai8708, 2017 | 104 | 2017 |
LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins WQ Wei, X Li, Q Feng, M Kubo, IJ Kullo, PL Peissig, EW Karlson, ... Circulation 138 (17), 1839-1849, 2018 | 97 | 2018 |
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 | 93 | 2019 |
Benefit of preemptive pharmacogenetic information on clinical outcome DM Roden, SL Van Driest, JD Mosley, QS Wells, JR Robinson, JC Denny, ... Clinical Pharmacology & Therapeutics 103 (5), 787-794, 2018 | 93 | 2018 |
Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome P Weeke, JD Mosley, D Hanna, JT Delaney, C Shaffer, QS Wells, ... Journal of the American College of Cardiology 63 (14), 1430-1437, 2014 | 93 | 2014 |
Cell cycle correlated genes dictate the prognostic power of breast cancer gene lists JD Mosley, RA Keri BMC medical genomics 1, 1-14, 2008 | 85 | 2008 |
Genetic variants in transcription factors are associated with the pharmacokinetics and pharmacodynamics of metformin S Goswami, SW Yee, S Stocker, JD Mosley, M Kubo, R Castro, JA Mefford, ... Clinical Pharmacology & Therapeutics 96 (3), 370-379, 2014 | 80 | 2014 |
Whole Exome Sequencing Identifies a Causal RBM20 Mutation in a Large Pedigree With Familial Dilated Cardiomyopathy QS Wells, JR Becker, YR Su, JD Mosley, P Weeke, L D’Aoust, ... Circulation: Cardiovascular Genetics 6 (4), 317-326, 2013 | 74 | 2013 |
Clinical laboratory test-wide association scan of polygenic scores identifies biomarkers of complex disease JK Dennis, JM Sealock, P Straub, YH Lee, D Hucks, KE Actkins, A Faucon, ... Genome medicine 13, 1-16, 2021 | 73 | 2021 |
Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index RM Cronin, JR Field, Y Bradford, CM Shaffer, RJ Carroll, JD Mosley, ... Frontiers in genetics 5, 250, 2014 | 73 | 2014 |