Madhuri Hegde

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

ACMG clinical laboratory standards for next-generation sequencing

Heidi L. Rehm, Sherri J. Bale, Pınar Bayrak‐Toydemir et al. · Genetics in Medicine · 2013 · 930 citations · Full text

Life Sciences, Biomedical Informatics, Molecular Biology +14

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

C. Sue Richards, Sherri J. Bale, Daniel B. Bellissimo et al. · Genetics in Medicine · 2008 · 822 citations · Full text

Life Sciences, Bioinformatics, Molecular Genetics +12

College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests

Nazneen Aziz, Qin Zhao, Lynn Bry et al. · Archives of Pathology & Laboratory Medicine · 2014 · 401 citations · Full text

Medicine, Bioinformatics, Clinical Sciences +12

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

Diana Mandelker, Ryan J. Schmidt, Arunkanth Ankala et al. · Genetics in Medicine · 2016 · 248 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16