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Sarah E. Brnich | Researchclopedia

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Sarah E. Brnich

Dana-Farber/Boston Children's Cancer and Blood Disorders Center ORCID

14

Works

977

Citations

6

h-index

6

i10-index

Research Topics

Genomics and Rare Diseases Cancer Genomics and Diagnostics Genetic factors in colorectal cancer

Affiliations

University of North Carolina at Chapel Hill2018–2021

Dickinson College2011–2011

Dana-Farber/Boston Children's Cancer and Blood Disorders Center2025–2025

Top Works

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Sarah E. Brnich,Ahmad Abou Tayoun,et al.

2019595 citations

Genetic Associations and Epidemiology

BRCA gene mutations in cancer

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

Hannah Gelman,Jennifer N. Dines,et al.

201996 citations

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Sarah E. Brnich,Ahmad Abou Tayoun,et al.

201996 citations

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks

Sarah E. Brnich,E. Andres Rivera-Munoz,et al.

201882 citations

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

Dona Kanavy,Shannon McNulty,et al.

201955 citations

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

Natasha T. Strande,Sarah E. Brnich,et al.

201854 citations

A Validated Functional Analysis of Partner and Localizer of BRCA2 Missense Variants for Use in Clinical Variant Interpretation

Sarah E. Brnich,Eyla C. Arteaga,et al.

20213 citations

P061: ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel

Megan Holdren,Marcy E. Richardson,et al.

20230 citations

GENETIC RE-EVALUATION OF SDS-LIKE AND NEUTROPENIA CONDITIONS

Helen D. Reed,Sarah E. Brnich,et al.

20250 citations