E. Andres Rivera-Munoz

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

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

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks

Sarah E. Brnich, E. Andres Rivera-Munoz, Jonathan S. Berg · Human Mutation · 2018 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease

Gloria Haskell, Brian C. Jensen, Leigh Ann Samsa et al. · Circulation Cardiovascular Genetics · 2017 · 41 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

Laura V. Milko, Birgit Funke, Ray E. Hershberger et al. · Genetics in Medicine · 2018 · 30 citations · Full text

Life Sciences, Bioinformatics, Biomedical Informatics +14