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Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants.
Sahu S, Sullivan TL, Mitrophanov AY, Galloux M, Nousome D, Southon E, Caylor D, Mishra AP, Evans CN, Clapp ME, Burkett S, Malys T, Chari R, Biswas K, Sharan SK. Sahu S, et al. PLoS Genet. 2023 Sep 15;19(9):e1010940. doi: 10.1371/journal.pgen.1010940. eCollection 2023 Sep. PLoS Genet. 2023. PMID: 37713444 Free PMC article.
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: sahu s. 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.
Characterization of BRCA2 R3052Q variant in mice supports its functional impact as a low-risk variant.
Mishra AP, Hartford S, Chittela RK, Sahu S, Kharat SS, Alvaro-Aranda L, Contreras-Perez A, Sullivan T, Martin BK, Albaugh M, Southon E, Burkett S, Karim B, Carreira A, Tessarollo L, Sharan SK. Mishra AP, et al. Among authors: sahu s. Cell Death Dis. 2023 Nov 18;14(11):753. doi: 10.1038/s41419-023-06289-8. Cell Death Dis. 2023. PMID: 37980415 Free PMC article.
2,050 results