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Sequencing-based functional assays for classification of BRCA2 variants in mouse ESCs.
Biswas K, Mitrophanov AY, Sahu S, Sullivan T, Southon E, Nousome D, Reid S, Narula S, Smolen J, Sengupta T, Riedel-Topper M, Kapoor M, Babbar A, Stauffer S, Cleveland L, Tandon M, Malys T, Sharan SK. Biswas K, et al. Among authors: riedel topper m. Cell Rep Methods. 2023 Nov 20;3(11):100628. doi: 10.1016/j.crmeth.2023.100628. Epub 2023 Nov 2. Cell Rep Methods. 2023. PMID: 37922907 Free PMC article.
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.
Xia B, Biswas K, Foo TK, Gomes TT, Riedel-Topper M, Southon E, Kang Z, Huo Y, Reid S, Stauffer S, Zhou W, Zhu B, Koka H, Yepes S, Brodie SA, Jones K, Vogt A, Zhu B, Carter B, Freedman ND, Hicks B, Yeager M, Chanock SJ, Couch F, Parry DM, Monteiro AN, Goldstein AM, Carvalho MA, Sharan SK, Yang XR. Xia B, et al. Among authors: riedel topper m. Hum Mutat. 2022 Oct;43(10):1396-1407. doi: 10.1002/humu.24427. Epub 2022 Jul 12. Hum Mutat. 2022. PMID: 35762214 Free PMC article.