Concepedia
Statistics
Publications
8
Citations
896
H-Index
Active since
2018
Affiliations
Boston Children's Hospital(Current)
Mass General Brigham
Broad Institute
Harvard University
Children's Hospital of Philadelphia
Rebecca K. Siegert is an author at Boston Children's Hospital specializing in life sciences, medical genetics, and genetics.
Publications per year
2018–2022
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
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
The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria
Ingo Helbig, Erin Rooney Riggs, Carrie‐Anne Barry et al. · Human Mutation · 2018 · 45 citations · Full text
Life Sciences, Genetics, Molecular Genetics +15
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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