Danielle R. Azzariti

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán et al. · Human Mutation · 2015 · 488 citations · Full text

Life Sciences, Bioinformatics, Genetics +13

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

Steven M. Harrison, Jill S. Dolinsky, Amy E. Knight Johnson et al. · Genetics in Medicine · 2017 · 251 citations · Full text

Life Sciences, Bioinformatics, Genetics +13

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

E. Andres Rivera-Munoz, Laura V. Milko, Steven M. Harrison et al. · Human Mutation · 2018 · 219 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients

Jason L. Vassy, Kurt D. Christensen, Erica F. Schonman et al. · Annals of Internal Medicine · 2017 · 171 citations

Medicine, Family Medicine, Genetics +17

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik et al. · The American Journal of Human Genetics · 2016 · 164 citations · Full text

Life Sciences, Bioinformatics, Molecular Medicine +16