A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ClinGen — The Clinical Genome Resource

Heidi L. Rehm, Jonathan S. Berg, Lisa Brooks et al. · New England Journal of Medicine · 2015 · 1.5K citations · Full text

Life Sciences, Cardiology, Genetics +17

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Sharon E. Plon, Douglas F. Easton, William D. Foulkes et al. · Human Mutation · 2008 · 913 citations · Full text

Life Sciences, Genetics, Oncology +17

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Sean V. Tavtigian, Marc S. Greenblatt, Steven M. Harrison et al. · Genetics in Medicine · 2018 · 606 citations · Full text

Computing, Bioinformatics, Computer Science +14

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Bryony A. Thompson, Amanda B. Spurdle, John‐Paul Plazzer et al. · Nature Genetics · 2013 · 476 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15