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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, Morton JEV, Griffith C, Weiss K, Gamble C, Bartley J, Vernon HJ, Brunet K, Ruivenkamp C, Kant SG, Kruszka P, Larson A, Afenjar A, Billette de Villemeur T, Nugent K; DDD Study; Raymond FL, Venselaar H, Demurger F, Soler-Alfonso C, Li D, Bhoj E, Hayes I, Hamilton NP, Ahmad A, Fisher R, van den Born M, Willems M, Sorlin A, Delanne J, Moutton S, Christophe P, Mau-Them FT, Vitobello A, Goel H, Massingham L, Phornphutkul C, Schwab J, Keren B, Charles P, Vreeburg M, De Simone L, Hoganson G, Iascone M, Milani D, Evenepoel L, Revencu N, Ward DI, Burns K, Krantz I, Raible SE, Murrell JR, Wood K, Cho MT, van Bokhoven H, Muenke M, Kleefstra T, Bodmer R, de Brouwer APM. Vissers LELM, et al. Among authors: bartley j. Am J Hum Genet. 2020 Jul 2;107(1):164-172. doi: 10.1016/j.ajhg.2020.05.017. Epub 2020 Jun 17. Am J Hum Genet. 2020. PMID: 32553196 Free PMC article.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Lu S, Ma M, Mao X, Bacino CA, Jankovic J, Sutton VR, Bartley JA, Wang X, Rosenfeld JA, Beleza-Meireles A, Chauhan J, Pan X, Li M, Liu P, Prescott K, Amin S, Davies G, Wangler MF, Dai Y, Bellen HJ. Lu S, et al. Among authors: bartley ja. Am J Hum Genet. 2022 Oct 6;109(10):1932-1943. doi: 10.1016/j.ajhg.2022.09.005. Am J Hum Genet. 2022. PMID: 36206744 Free PMC article.
Hemifacial microsomia and abnormal chromosome 22.
Hathout EH, Elmendorf E, Bartley J. Hathout EH, et al. Among authors: bartley j. Am J Med Genet. 1998 Feb 26;76(1):71-3. doi: 10.1002/(sici)1096-8628(19980226)76:1<71::aid-ajmg13>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9508069
Autosomal XX sex reversal caused by duplication of SOX9.
Huang B, Wang S, Ning Y, Lamb AN, Bartley J. Huang B, et al. Among authors: bartley j. Am J Med Genet. 1999 Dec 3;87(4):349-53. doi: 10.1002/(sici)1096-8628(19991203)87:4<349::aid-ajmg13>3.0.co;2-n. Am J Med Genet. 1999. PMID: 10588843
Linkage localization of Börjeson-Forssman-Lehmann syndrome.
Mathews KD, Ardinger HH, Nishimura DY, Buetow KH, Murray JC, Bartley JA. Mathews KD, et al. Among authors: bartley ja. Am J Med Genet. 1989 Dec;34(4):470-4. doi: 10.1002/ajmg.1320340403. Am J Med Genet. 1989. PMID: 2624254
Partial hexasomy of chromosome 15.
Huang B, Bartley J. Huang B, et al. Among authors: bartley j. Am J Med Genet A. 2003 Sep 1;121A(3):277-80. doi: 10.1002/ajmg.a.20182. Am J Med Genet A. 2003. PMID: 12923871
Microcephaly in familial holoprosencephaly.
Ardinger HH, Bartley JA. Ardinger HH, et al. Among authors: bartley ja. J Craniofac Genet Dev Biol. 1988;8(1):53-61. J Craniofac Genet Dev Biol. 1988. PMID: 3209679
342 results