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Page 1
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. Among authors: southon e. 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.
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: southon e. 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.
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: southon e. 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.
BRCA2-DSS1 interaction is dispensable for RAD51 recruitment at replication-induced and meiotic DNA double strand breaks.
Mishra AP, Hartford SA, Sahu S, Klarmann K, Chittela RK, Biswas K, Jeon AB, Martin BK, Burkett S, Southon E, Reid S, Albaugh ME, Karim B, Tessarollo L, Keller JR, Sharan SK. Mishra AP, et al. Among authors: southon e. Nat Commun. 2022 Apr 1;13(1):1751. doi: 10.1038/s41467-022-29409-y. Nat Commun. 2022. PMID: 35365640 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: southon e. 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.
Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer.
Sullivan T, Thirthagiri E, Chong CE, Stauffer S, Reid S, Southon E, Hassan T, Ravichandran A, Wijaya E, Lim J, Taib NAM, Fadzli F, Yip CH, Hartman M, Li J, van Dam RM, North SL, Das R, Easton DF, Biswas K, Teo SH, Sharan SK; SGBCC Investigators; MYBRCA Investigators. Sullivan T, et al. Among authors: southon e. Hum Mutat. 2021 Feb;42(2):200-212. doi: 10.1002/humu.24154. Epub 2020 Dec 31. Hum Mutat. 2021. PMID: 33314489 Free PMC article.
Interaction with PALB2 Is Essential for Maintenance of Genomic Integrity by BRCA2.
Hartford SA, Chittela R, Ding X, Vyas A, Martin B, Burkett S, Haines DC, Southon E, Tessarollo L, Sharan SK. Hartford SA, et al. Among authors: southon e. PLoS Genet. 2016 Aug 4;12(8):e1006236. doi: 10.1371/journal.pgen.1006236. eCollection 2016 Aug. PLoS Genet. 2016. PMID: 27490902 Free PMC article.
A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing.
Biswas K, Couillard M, Cavallone L, Burkett S, Stauffer S, Martin BK, Southon E, Reid S, Plona TM, Baugher RN, Mellott SD, Pike KM, Albaugh ME, Maedler-Kron C, Hamel N, Tessarollo L, Marcus V, Foulkes WD, Sharan SK. Biswas K, et al. Among authors: southon e. Cell Death Dis. 2021 Sep 6;12(9):838. doi: 10.1038/s41419-021-04130-8. Cell Death Dis. 2021. PMID: 34489406 Free PMC article.
Manipulating mouse embryonic stem cells.
Southon E, Tessarollo L. Southon E, et al. Methods Mol Biol. 2009;530:165-85. doi: 10.1007/978-1-59745-471-1_9. Methods Mol Biol. 2009. PMID: 19266324
35 results