Elaine Lyon

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

Genotyping of Single-Nucleotide Polymorphisms by High-Resolution Melting of Small Amplicons

Michael Liew, Robert J. Pryor, Robert Palais et al. · Clinical Chemistry · 2004 · 658 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17