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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: nadaf j. Genome Med. 2021 Dec 3;13(1):186. doi: 10.1186/s13073-021-00998-5. Genome Med. 2021. PMID: 34861889 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: nadaf 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: nadaf 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
Germline RECQL mutations are associated with breast cancer susceptibility.
Cybulski C, Carrot-Zhang J, Kluźniak W, Rivera B, Kashyap A, Wokołorczyk D, Giroux S, Nadaf J, Hamel N, Zhang S, Huzarski T, Gronwald J, Byrski T, Szwiec M, Jakubowska A, Rudnicka H, Lener M, Masojć B, Tonin PN, Rousseau F, Górski B, Dębniak T, Majewski J, Lubiński J, Foulkes WD, Narod SA, Akbari MR. Cybulski C, et al. Among authors: nadaf j. Nat Genet. 2015 Jun;47(6):643-6. doi: 10.1038/ng.3284. Epub 2015 Apr 27. Nat Genet. 2015. PMID: 25915596
Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor.
Fahiminiya S, Witkowski L, Nadaf J, Carrot-Zhang J, Goudie C, Hasselblatt M, Johann P, Kool M, Lee RS, Gayden T, Roberts CW, Biegel JA, Jabado N, Majewski J, Foulkes WD. Fahiminiya S, et al. Among authors: nadaf j. Oncotarget. 2016 Jan 12;7(2):1732-40. doi: 10.18632/oncotarget.6459. Oncotarget. 2016. PMID: 26646792 Free PMC article.
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.
Rivera B, Gayden T, Carrot-Zhang J, Nadaf J, Boshari T, Faury D, Zeinieh M, Blanc R, Burk DL, Fahiminiya S, Bareke E, Schüller U, Monoranu CM, Sträter R, Kerl K, Niederstadt T, Kurlemann G, Ellezam B, Michalak Z, Thom M, Lockhart PJ, Leventer RJ, Ohm M, MacGregor D, Jones D, Karamchandani J, Greenwood CM, Berghuis AM, Bens S, Siebert R, Zakrzewska M, Liberski PP, Zakrzewski K, Sisodiya SM, Paulus W, Albrecht S, Hasselblatt M, Jabado N, Foulkes WD, Majewski J. Rivera B, et al. Among authors: nadaf j. Acta Neuropathol. 2016 Jun;131(6):847-63. doi: 10.1007/s00401-016-1549-x. Epub 2016 Feb 26. Acta Neuropathol. 2016. PMID: 26920151 Free PMC article.
42 results