Concepedia
Statistics
Publications
18
Citations
2K
H-Index
16
Active since
2017
Affiliations
Mass General Brigham(Current)
Harvard University
Boston Children's Hospital
Broad Institute
Brigham and Women's Hospital
Andrea M. Oza is an author at Mass General Brigham specializing in genetics, life sciences, and hearing impairment.
Publications per year
2017–2025
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
Ahmad Abou Tayoun, Tina Pesaran, Marina T. DiStefano et al. · Human Mutation · 2018 · 881 citations
Life Sciences, Genetics, Molecular Genetics +14
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
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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