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Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Cline MS, Babbi G, Bonache S, Cao Y, Casadio R, de la Cruz X, Díez O, Gutiérrez-Enríquez S, Katsonis P, Lai C, Lichtarge O, Martelli PL, Mishne G, Moles-Fernández A, Montalban G, Mooney SD, O'Conner R, Ootes L, Özkan S, Padilla N, Pagel KA, Pejaver V, Radivojac P, Riera C, Savojardo C, Shen Y, Sun Y, Topper S, Parsons MT, Spurdle AB, Goldgar DE; ENIGMA Consortium. Cline MS, et al. Among authors: topper s. Hum Mutat. 2019 Sep;40(9):1546-1556. doi: 10.1002/humu.23861. Epub 2019 Aug 23. Hum Mutat. 2019. PMID: 31294896 Free PMC article.
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Harrison SM, Dolinksy JS, Chen W, Collins CD, Das S, Deignan JL, Garber KB, Garcia J, Jarinova O, Knight Johnson AE, Koskenvuo JW, Lee H, Mao R, Mar-Heyming R, McFaddin AS, Moyer K, Nagan N, Rentas S, Santani AB, Seppälä EH, Shirts BH, Tidwell T, Topper S, Vincent LM, Vinette K, Rehm HL; ClinGen Sequence Variant Inter-Laboratory Discrepancy Resolution Working Group. Harrison SM, et al. Among authors: topper s. Hum Mutat. 2018 Nov;39(11):1641-1649. doi: 10.1002/humu.23643. Hum Mutat. 2018. PMID: 30311378 Free PMC article.
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R, O'Donnell-Luria A, Harrison SM, Tavtigian SV, Greenblatt MS, Biesecker LG, Radivojac P, Brenner SE; ClinGen Sequence Variant Interpretation Working Group. Pejaver V, et al. Am J Hum Genet. 2022 Dec 1;109(12):2163-2177. doi: 10.1016/j.ajhg.2022.10.013. Epub 2022 Nov 21. Am J Hum Genet. 2022. PMID: 36413997 Free PMC article.
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Walker LC, Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison SM, Spurdle AB; ClinGen Sequence Variant Interpretation Working Group. Walker LC, et al. Am J Hum Genet. 2023 Jul 6;110(7):1046-1067. doi: 10.1016/j.ajhg.2023.06.002. Epub 2023 Jun 22. Am J Hum Genet. 2023. PMID: 37352859 Free PMC article.
Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines.
Neben CL, Zimmer AD, Stedden W, van den Akker J, O'Connor R, Chan RC, Chen E, Tan Z, Leon A, Ji J, Topper S, Zhou AY. Neben CL, et al. Among authors: topper s. J Mol Diagn. 2019 Jul;21(4):646-657. doi: 10.1016/j.jmoldx.2019.03.001. Epub 2019 Jun 11. J Mol Diagn. 2019. PMID: 31201024 Free article.
Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL, Chao E, Gannon JL, Greely HT, Hagman KDF, Mao R, Topper S; ACMG Laboratory Quality Assurance Committee. Deignan JL, et al. Among authors: topper s. Genet Med. 2020 Aug;22(8):1285-1287. doi: 10.1038/s41436-020-0821-6. Epub 2020 May 14. Genet Med. 2020. PMID: 32404921 Free article. No abstract available.
67 results