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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: ray jw. 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
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP. Fountain MD, et al. Among authors: ray jw. Genet Med. 2017 Jan;19(1):45-52. doi: 10.1038/gim.2016.53. Epub 2016 May 19. Genet Med. 2017. PMID: 27195816 Free PMC article.
Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.
Oluwafemi OO, Benjamin RH, Navarro Sanchez ML, Scheuerle AE, Schaaf CP, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scott DA, Northrup H, Ray JW, McLean SD, Ludorf KL, Chen H, Lupo PJ, Agopian AJ. Oluwafemi OO, et al. Among authors: ray jw. Am J Med Genet A. 2020 Nov;182(11):2581-2593. doi: 10.1002/ajmg.a.61830. Epub 2020 Sep 4. Am J Med Genet A. 2020. PMID: 32885608 Free PMC article.
Patterns of congenital anomalies among individuals with trisomy 13 in Texas.
Diaz D, Benjamin RH, Navarro Sanchez ML, Mitchell LE, Langlois PH, Canfield MA, Chen H, Scheuerle AE, Schaaf CP, Scott DA, Northrup H, Ray JW, McLean SD, Swartz MD, Ludorf KL, Lupo PJ, Agopian AJ. Diaz D, et al. Among authors: ray jw. Am J Med Genet A. 2021 Jun;185(6):1787-1793. doi: 10.1002/ajmg.a.62175. Epub 2021 Mar 22. Am J Med Genet A. 2021. PMID: 33749998 Free PMC article.
68 results