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Page 1
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Zarate YA, et al. Among authors: cohen js. Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13. Am J Med Genet A. 2018. PMID: 29436146
Clinical whole exome sequencing in child neurology practice.
Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A. Srivastava S, et al. Among authors: cohen js. Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30. Ann Neurol. 2014. PMID: 25131622
BRAT1 mutations present with a spectrum of clinical severity.
Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S. Srivastava S, et al. Among authors: cohen js. Am J Med Genet A. 2016 Sep;170(9):2265-73. doi: 10.1002/ajmg.a.37783. Epub 2016 Jun 9. Am J Med Genet A. 2016. PMID: 27282546 Free PMC article. Review.
539 results