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Page 1
Duplication 2p16 is associated with perisylvian polymicrogyria.
Amrom D, Poduri A, Goldman JS, Dan B, Deconinck N, Pichon B, Nadaf J, Andermann F, Andermann E, Walsh CA, Dobyns WB. Amrom D, et al. Among authors: nadaf j. Am J Med Genet A. 2019 Dec;179(12):2343-2356. doi: 10.1002/ajmg.a.61342. Epub 2019 Oct 29. Am J Med Genet A. 2019. PMID: 31660690
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
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Hautakangas MR, Widgren P, Korpelainen P, Kangas SM, Komulainen T, Vieira P, Rahikkala E, Pylkäs K, Tuominen H, Kokkonen H, Miinalainen I, Nadaf J, Majewski J, Hinttala R, Uusimaa J. Hautakangas MR, et al. Among authors: nadaf j. Clin Genet. 2023 Dec;104(6):686-693. doi: 10.1111/cge.14416. Epub 2023 Aug 13. Clin Genet. 2023. PMID: 37574199
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
Invasive growth associated with cold-inducible RNA-binding protein expression drives recurrence of surgically resected brain metastases.
Dankner M, Caron M, Al-Saadi T, Yu W, Ouellet V, Ezzeddine R, Maritan SM, Annis MG, Le PU, Nadaf J, Neubarth NS, Savage P, Zuo D, Couturier CP, Monlong J, Djambazian H, Altoukhi H, Bourque G, Ragoussis J, Diaz RJ, Park M, Guiot MC, Lam S, Petrecca K, Siegel PM. Dankner M, et al. Among authors: nadaf j. Neuro Oncol. 2021 Sep 1;23(9):1470-1480. doi: 10.1093/neuonc/noab002. Neuro Oncol. 2021. PMID: 33433612 Free PMC article.
Single-cell RNA-seq reveals that glioblastoma recapitulates a normal neurodevelopmental hierarchy.
Couturier CP, Ayyadhury S, Le PU, Nadaf J, Monlong J, Riva G, Allache R, Baig S, Yan X, Bourgey M, Lee C, Wang YCD, Wee Yong V, Guiot MC, Najafabadi H, Misic B, Antel J, Bourque G, Ragoussis J, Petrecca K. Couturier CP, et al. Among authors: nadaf j. Nat Commun. 2020 Jul 8;11(1):3406. doi: 10.1038/s41467-020-17186-5. Nat Commun. 2020. PMID: 32641768 Free PMC article.
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.
Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, Sharma S, Wagener R, Revil T, Condello V, Harra Z, Hamel N, Sabbaghian N, Muchantef K, Thomas C, de Kock L, Hébert-Blouin MN, Bassenden AV, Rabenstein H, Mete O, Paschke R, Pusztaszeri MP, Paulus W, Berghuis A, Ragoussis J, Nikiforov YE, Siebert R, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD. Rivera B, et al. Among authors: nadaf j. J Clin Invest. 2020 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206. J Clin Invest. 2020. PMID: 31805011 Free PMC article. Clinical Trial.
Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.
Almuriekhi M, Shintani T, Fahiminiya S, Fujikawa A, Kuboyama K, Takeuchi Y, Nawaz Z, Nadaf J, Kamel H, Kitam AK, Samiha Z, Mahmoud L, Ben-Omran T, Majewski J, Noda M. Almuriekhi M, et al. Among authors: nadaf j. Cell Rep. 2015 Mar 10;10(9):1585-1598. doi: 10.1016/j.celrep.2015.02.011. Epub 2015 Mar 5. Cell Rep. 2015. PMID: 25753423 Free article.
Recessive osteogenesis imperfecta caused by missense mutations in SPARC.
Mendoza-Londono R, Fahiminiya S, Majewski J; Care4Rare Canada Consortium; Tétreault M, Nadaf J, Kannu P, Sochett E, Howard A, Stimec J, Dupuis L, Roschger P, Klaushofer K, Palomo T, Ouellet J, Al-Jallad H, Mort JS, Moffatt P, Boudko S, Bächinger HP, Rauch F. Mendoza-Londono R, et al. Among authors: nadaf j. Am J Hum Genet. 2015 Jun 4;96(6):979-85. doi: 10.1016/j.ajhg.2015.04.021. Epub 2015 May 28. Am J Hum Genet. 2015. PMID: 26027498 Free PMC article.
43 results