Concepedia
Statistics
Publications
8
Citations
986
H-Index
Active since
2018
Affiliations
Mass General Brigham(Current)
Harvard University
Brigham and Women's Hospital
Broad Institute
ARUP Laboratories (United States)
Brandon J. Cushman is an author at Mass General Brigham specializing in life sciences, medical genetics, and 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
Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
Andrew R. Grant, Brandon J. Cushman, Hélène Cavé et al. · Human Mutation · 2018 · 98 citations · Full text
Life Sciences, Genetics, Molecular Genetics +9
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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