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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ. Cheng H, et al. Among authors: gecz j. Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656860 Free PMC article.
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gécz J. Strømme P, et al. Among authors: gecz j. Nat Genet. 2002 Apr;30(4):441-5. doi: 10.1038/ng862. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889467
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gécz J. Lower KM, et al. Among authors: gecz j. Nat Genet. 2002 Dec;32(4):661-5. doi: 10.1038/ng1040. Epub 2002 Nov 4. Nat Genet. 2002. PMID: 12415272
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.
Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE. Burdon KP, et al. Among authors: gecz j. Am J Hum Genet. 2003 Nov;73(5):1120-30. doi: 10.1086/379381. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564667 Free PMC article.
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
Freude K, Hoffmann K, Jensen LR, Delatycki MB, des Portes V, Moser B, Hamel B, van Bokhoven H, Moraine C, Fryns JP, Chelly J, Gécz J, Lenzner S, Kalscheuer VM, Ropers HH. Freude K, et al. Among authors: gecz j. Am J Hum Genet. 2004 Aug;75(2):305-9. doi: 10.1086/422507. Epub 2004 May 25. Am J Hum Genet. 2004. PMID: 15162322 Free PMC article.
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gécz J. Weaving LS, et al. Among authors: gecz j. Am J Hum Genet. 2004 Dec;75(6):1079-93. doi: 10.1086/426462. Epub 2004 Oct 18. Am J Hum Genet. 2004. PMID: 15492925 Free PMC article.
366 results