| Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework SE Brnich, AN Abou Tayoun, FJ Couch, GR Cutting, MS Greenblatt, ... Genome Medicine 12 (1), 1-12, 2020 | 409 | 2020 |
| Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks SE Brnich, EA Rivera‐Muñoz, JS Berg Human Mutation, 2018 | 60 | 2018 |
| Navigating the nuances of clinical sequence variant interpretation in Mendelian disease NT Strande, SE Brnich, TS Roman, JS Berg Genetics in Medicine 20 (9), 918-926, 2018 | 58 | 2018 |
| Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation H Gelman, JN Dines, J Berg, AH Berger, S Brnich, FM Hisama, RG James, ... Genome Medicine 11 (1), 85, 2019 | 47 | 2019 |
| Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels DM Kanavy, SM McNulty, MK Jairath, SE Brnich, C Bizon, BC Powell, ... Genome medicine 11 (1), 1-19, 2019 | 47 | 2019 |
| A validated functional analysis of partner and localizer of BRCA2 missense variants for use in clinical variant interpretation SE Brnich, EC Arteaga, Y Wang, X Tan, JS Berg The Journal of Molecular Diagnostics 23 (7), 847-864, 2021 | 2 | 2021 |
| A Validated Functional Analysis of PALB2 Missense Variants for Use in Clinical Variant Interpretation SE Brnich, EC Arteaga, Y Wang, X Tan, JS Berg bioRxiv, 2020 | | 2020 |
| Examining the Role of Functional Assays in Clinical Variant Interpretation SE Brnich The University of North Carolina at Chapel Hill, 2020 | | 2020 |
| A Method to Missense Madness: Improving Clinical Variant Interpretation with a Pathway-Focused Functional Assay SE Brnich, A Brandt, JS Berg JOURNAL OF MOLECULAR DIAGNOSTICS 21 (6), 1121-1122, 2019 | | 2019 |
