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BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC, Foo TK, Richardson ME, Ranola JMO, Weyandt J, Varga MJ, Alarcon A, Gutierrez D, von Wachenfeldt A, Eriksson D, Kim R, Armel S, Iversen E, Couch FJ, Borg Å, Xia B, Carvalho MA, Monteiro ANA. Nepomuceno TC, et al. Among authors: foo tk. HGG Adv. 2024 Apr 25;5(3):100296. doi: 10.1016/j.xhgg.2024.100296. Online ahead of print. HGG Adv. 2024. PMID: 38669137 Free PMC article. No abstract available.
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC, Foo TK, Richardson ME, Ranola JMO, Weyandt J, Varga MJ, Alarcon A, Gutierrez D, von Wachenfeldt A, Eriksson D, Kim R, Armel S, Iversen E, Couch FJ, Borg Å, Xia B, Carvalho MA, Monteiro ANA. Nepomuceno TC, et al. Among authors: foo tk. HGG Adv. 2023 Oct 12;4(4):100240. doi: 10.1016/j.xhgg.2023.100240. Epub 2023 Sep 16. HGG Adv. 2023. PMID: 37718511 Free PMC article.
Functional characterization of 84 PALB2 variants of uncertain significance.
Wiltshire T, Ducy M, Foo TK, Hu C, Lee KY, Belur Nagaraj A, Rodrigue A, Gomes TT, Simard J, Monteiro ANA, Xia B, Carvalho MA, Masson JY, Couch FJ. Wiltshire T, et al. Among authors: foo tk. Genet Med. 2020 Mar;22(3):622-632. doi: 10.1038/s41436-019-0682-z. Epub 2019 Oct 21. Genet Med. 2020. PMID: 31636395 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: foo tk. 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.
133 results