Regis A. James

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Jennifer E. Posey, Tamar Harel, Pengfei Liu et al. · New England Journal of Medicine · 2016 · 752 citations · Full text

Molecular diagnostic experience of whole-exome sequencing in adult patients

Jennifer E. Posey, Jill A. Rosenfeld, Regis A. James et al. · Genetics in Medicine · 2015 · 235 citations · Full text

Molecular Diagnostic Techniques, Sequencing, Medicine +7

Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

Ian M. Campbell, Jonathan R. Stewart, Regis A. James et al. · The American Journal of Human Genetics · 2014 · 131 citations · Full text

Linkage Disequilibrium, Broken Symmetry, Medicine +12

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

Frank J. Probst, Regis A. James, Lindsay C. Burrage et al. · Orphanet Journal of Rare Diseases · 2015 · 53 citations · Full text

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

Regis A. James, Ian M. Campbell, Edward S. Chen et al. · Genome Medicine · 2016 · 47 citations · Full text