Melissa Basford

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations

Joshua C. Denny, Marylyn D. Ritchie, Melissa Basford et al. · Bioinformatics · 2010 · 1.3K citations · Full text

Medicine, Biomedical Informatics, Molecular Genetics +16

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

Medicine, Bioinformatics, Biomedical Informatics +16

Genomic data in the All of Us Research Program

Alexander G. Bick, Ginger Metcalf, Kelsey Mayo et al. · Nature · 2024 · 753 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network

Katherine M. Newton, Peggy Peissig, A. N. Kho et al. · Journal of the American Medical Informatics Association · 2013 · 426 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +15

PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability

Jacqueline Kirby, Peter Speltz, Luke V. Rasmussen et al. · Journal of the American Medical Informatics Association · 2016 · 386 citations · Full text

Medicine, Bioinformatics, Biomedical Informatics +15