Concepedia
Statistics
Publications
8
Citations
1K
H-Index
Active since
2018
Affiliations
Mass General Brigham(Current)
Harvard University
Brigham and Women's Hospital
Broad Institute
Children's Hospital of Philadelphia
Sarah E. Hemphill is an author at Mass General Brigham specializing in life sciences, variant interpretation, and medical genetics.
Publications per year
2018–2021
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill et al. · Human Mutation · 2018 · 517 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data
Alex Henrie, Sarah E. Hemphill, Nicole Ruiz-Schultz et al. · Human Mutation · 2018 · 155 citations · Full text
Life Sciences, Bioinformatics, Biomedical Informatics +16
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Jun Shen, Andrea M. Oza, Ignacio del Castillo et al. · Genetics in Medicine · 2019 · 105 citations · Full text
Life Sciences, Genetics, Molecular Genetics +11
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza et al. · Genetics in Medicine · 2019 · 92 citations · Full text
Life Sciences, Bioinformatics, Genetics +8
Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss
Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2018 · 43 citations · Full text
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