Carolyn Sue Richards

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Laura M. Amendola, Gail P. Jarvik, Michael C. Leo et al. · The American Journal of Human Genetics · 2016 · 580 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics

Anne Maddalena, Carolyn Sue Richards, Matthew J. McGinniss et al. · Genetics in Medicine · 2001 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Standards and Guidelines for CFTR Mutation Testing

Carolyn Sue Richards, Linda Bradley, Jean Amos et al. · Genetics in Medicine · 2002 · 130 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Developing a Sustainable Process to Provide Quality Control Materials for Genetic Testing

Bin Chen, Catherine D. O’Connell, D. Joe Boone et al. · Genetics in Medicine · 2005 · 60 citations

Life Sciences, Biotechnology, Genetics +14

Recommendations from the EGAPP Working Group: Routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members

Alfred O. Berg, Jeffrey R. Botkin, Ned Calonge et al. · Genetics in Medicine · 2011 · 60 citations · Full text

Medicine, Genetics, Hematology +17