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Office
300 Longwood Ave
Boston, MA 02115Phone+1 617-355-6000
Education & Training
Boston Children’s Hospital/Boston Medical CenterInternship, Pediatrics, 2022
University of North Carolina at Chapel Hill School of MedicineClass of 2022
Certifications & Licensure
MA State Medical License 2022 - 2025
Publications & Presentations
PubMed
- 46 citationsRecommendations for the collection and use of multiplexed functional data for clinical variant interpretationHannah Gelman, Jennifer N. Dines, Jonathan S. Berg, Alice H. Berger, Sarah E. Brnich
Genome Medicine. 2019-12-20 - 291 citationsRecommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt
Genome Medicine. 2020-12-01 - 42 citationsQuantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.Sarah E. Brnich, Edgar A. Rivera-Munoz, Jonathan S. Berg
Human Mutation. 2018-11-01
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