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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Genome Med. 2019 Dec 31;12(1):3. doi: 10.1186/s13073-019-0690-2.
Genome Med. 2019.
PMID: 31892348
Free PMC article.
Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.
Gelman H, Dines JN, Berg J, Berger AH, Brnich S, Hisama FM, James RG, Rubin AF, Shendure J, Shirts B, Fowler DM, Starita LM; Brotman Baty Institute Mutational Scanning Working Group.
Gelman H, et al.
Genome Med. 2019 Dec 20;11(1):85. doi: 10.1186/s13073-019-0698-7.
Genome Med. 2019.
PMID: 31862013
Free PMC article.
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Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.
Brnich SE, Rivera-Muñoz EA, Berg JS.
Brnich SE, et al.
Hum Mutat. 2018 Nov;39(11):1531-1541. doi: 10.1002/humu.23609. Epub 2018 Sep 5.
Hum Mutat. 2018.
PMID: 30095857
Free PMC article.
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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM, McNulty SM, Jairath MK, Brnich SE, Bizon C, Powell BC, Berg JS.
Kanavy DM, et al. Among authors: brnich se.
Genome Med. 2019 Nov 29;11(1):77. doi: 10.1186/s13073-019-0683-1.
Genome Med. 2019.
PMID: 31783775
Free PMC article.
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Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.
Strande NT, Brnich SE, Roman TS, Berg JS.
Strande NT, et al. Among authors: brnich se.
Genet Med. 2018 Sep;20(9):918-926. doi: 10.1038/s41436-018-0100-y. Epub 2018 Jul 10.
Genet Med. 2018.
PMID: 29988079
Free PMC article.
Review.
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A Validated Functional Analysis of Partner and Localizer of BRCA2 Missense Variants for Use in Clinical Variant Interpretation.
Brnich SE, Arteaga EC, Wang Y, Tan X, Berg JS.
Brnich SE, et al.
J Mol Diagn. 2021 Jul;23(7):847-864. doi: 10.1016/j.jmoldx.2021.04.010. Epub 2021 May 6.
J Mol Diagn. 2021.
PMID: 33964450
Free PMC article.
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The Transcriptomic Portrait of Locally Advanced Breast Cancer and Its Prognostic Value in a Multi-Country Cohort of Latin American Patients.
Llera AS, Abdelhay ESFW, Artagaveytia N, Daneri-Navarro A, Müller B, Velazquez C, Alcoba EB, Alonso I, Alves da Quinta DB, Binato R, Bravo AI, Camejo N, Carraro DM, Castro M, Castro-Cervantes JM, Cataldi S, Cayota A, Cerda M, Colombo A, Crocamo S, Del Toro-Arreola A, Delgadillo-Cisterna R, Delgado L, Dreyer-Breitenbach M, Fejerman L, Fernández EA, Fernández J, Fernández W, Franco-Topete RA, Gabay C, Gaete F, Garibay-Escobar A, Gómez J, Greif G, Gross TG, Guerrero M, Henderson MK, Lopez-Muñoz ME, Lopez-Vazquez A, Maldonado S, Morán-Mendoza AJ, Nagai MA, Oceguera-Villanueva A, Ortiz-Martínez MA, Quintero J, Quintero-Ramos A, Reis RM, Retamales J, Rivera-Claisse E, Rocha D, Rodríguez R, Rosales C, Salas-González E, Sanchotena V, Segovia L, Sendoya JM, Silva-García AA, Trinchero A, Valenzuela O, Vedham V, Zagame L; United States-Latin American Cancer Research Network (US-LACRN); Podhajcer OL.
Llera AS, et al.
Front Oncol. 2022 Mar 22;12:835626. doi: 10.3389/fonc.2022.835626. eCollection 2022.
Front Oncol. 2022.
PMID: 35433488
Free PMC article.
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Socioeconomic, Clinical, and Molecular Features of Breast Cancer Influence Overall Survival of Latin American Women.
de Almeida LM, Cortés S, Vilensky M, Valenzuela O, Cortes-Sanabria L, de Souza M, Barbeito RA, Abdelhay E, Artagaveytia N, Daneri-Navarro A, Llera AS, Müller B, Podhajcer OL, Velazquez C, Alcoba E, Alonso I, Bravo AI, Camejo N, Carraro DM, Castro M, Cataldi S, Cayota A, Cerda M, Colombo A, Crocamo S, Del Toro-Arreola A, Delgadillo-Cristerna R, Delgado L, Breitenbach MD, Fernández E, Fernández J, Fernández W, Franco-Topete RA, Gaete F, Gómez J, Gonzalez-Ramirez LP, Guerrero M, Gutierrez-Rubio SA, Jalfin B, Lopez-Vazquez A, Loria D, Míguez S, Moran-Mendoza AJ, Morgan-Villela G, Mussetti C, Nagai MA, Oceguera-Villanueva A, Reis RM, Retamales J, Rodriguez R, Rosales C, Salas-Gonzalez E, Segovia L, Sendoya JM, Silva-Garcia AA, Viña S, Zagame L, Jones B, Szklo M; United States-Latin American Cancer Research Network (US-LACRN).
de Almeida LM, et al.
Front Oncol. 2022 Mar 8;12:845527. doi: 10.3389/fonc.2022.845527. eCollection 2022.
Front Oncol. 2022.
PMID: 35530311
Free PMC article.
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