Erin Rooney Riggs

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs, Erica Andersen, Athena M. Cherry et al. · Genetics in Medicine · 2019 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Sebastian Köhler, Sandra C. Doelken, Chris Mungall et al. · Nucleic Acids Research · 2013 · 837 citations · Full text

Medicine, Biomedical Informatics, Pathology +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

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

Kent Shefchek, Nomi L. Harris, Michael Gargano et al. · Nucleic Acids Research · 2019 · 265 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

Marina T. DiStefano, Scott Goehringer, Lawrence Babb et al. · Genetics in Medicine · 2022 · 163 citations · Full text

Life Sciences, Bioinformatics, Genetics +13