Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

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

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan et al. · The American Journal of Human Genetics · 2017 · 564 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

CHEK2*1100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 Studies

The American Journal of Human Genetics · 2004 · 475 citations · Full text

Medicine, Oncology, Cancer Epidemiology +8

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