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A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.
Fierheller CT, Guitton-Sert L, Alenezi WM, Revil T, Oros KK, Gao Y, Bedard K, Arcand SL, Serruya C, Behl S, Meunier L, Fleury H, Fewings E, Subramanian DN, Nadaf J, Bruce JP, Bell R, Provencher D, Foulkes WD, El Haffaf Z, Mes-Masson AM, Majewski J, Pugh TJ, Tischkowitz M, James PA, Campbell IG, Greenwood CMT, Ragoussis J, Masson JY, Tonin PN. Fierheller CT, et al. Among authors: majewski j. Genome Med. 2021 Dec 3;13(1):186. doi: 10.1186/s13073-021-00998-5. Genome Med. 2021. PMID: 34861889 Free PMC article.
Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines.
Ha KC, Lalonde E, Li L, Cavallone L, Natrajan R, Lambros MB, Mitsopoulos C, Hakas J, Kozarewa I, Fenwick K, Lord CJ, Ashworth A, Vincent-Salomon A, Basik M, Reis-Filho JS, Majewski J, Foulkes WD. Ha KC, et al. Among authors: majewski j. BMC Med Genomics. 2011 Oct 27;4:75. doi: 10.1186/1755-8794-4-75. BMC Med Genomics. 2011. PMID: 22032724 Free PMC article.
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD. Witkowski L, et al. Among authors: majewski j. Nat Genet. 2014 May;46(5):438-43. doi: 10.1038/ng.2931. Epub 2014 Mar 23. Nat Genet. 2014. PMID: 24658002
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.
Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, Khadija KA, Zaineddin S, Kamel H, Majewski J, Tropepe V. Ben-Omran T, et al. Among authors: majewski j. J Med Genet. 2015 Jun;52(6):381-90. doi: 10.1136/jmedgenet-2014-102707. Epub 2015 Apr 14. J Med Genet. 2015. PMID: 25873735
537 results