Jonathan D. Mosley

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

Joshua C. Denny, Lisa Bastarache, Marylyn D. Ritchie et al. · Nature Biotechnology · 2013 · 1.1K citations · Full text

Genome-wide Association Study, Health Informatics, Genotype-phenotype Association +12

Predictive Accuracy of a Polygenic Risk Score Compared With a Clinical Risk Score for Incident Coronary Heart Disease

Jonathan D. Mosley, Deepak K. Gupta, Jingyi Tan et al. · JAMA · 2020 · 345 citations · Full text

FOXA1 is an essential determinant of ERα expression and mammary ductal morphogenesis

Gina M. Bernardo, Kristen L. Lozada, John D. Miedler et al. · Development · 2010 · 246 citations

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

Lisa Bastarache, Jacob Hughey, Scott J. Hebbring et al. · Science · 2018 · 235 citations

Genome-wide Association Study, Mendelian Disorder, Genotype-phenotype Association +15

Genome- and Phenome-Wide Analyses of Cardiac Conduction Identifies Markers of Arrhythmia Risk

Marylyn D. Ritchie, Joshua C. Denny, Rebecca L. Zuvich et al. · Circulation · 2013 · 181 citations · Full text