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Muenke syndrome: Medical and surgical comorbidities and long-term management.
Murali CN, McDonald-McGinn DM, Wenger TL, McDougall C, Stroup BM, Sheppard SE, Taylor J, Bartlett SP, Bhoj EJ, Zackai EH, Santani A. Murali CN, et al. Am J Med Genet A. 2019 Aug;179(8):1442-1450. doi: 10.1002/ajmg.a.61199. Epub 2019 May 20. Am J Med Genet A. 2019. PMID: 31111620 Free PMC article.
Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.
Duffy KA, Cielo CM, Cohen JL, Gonzalez-Gandolfi CX, Griff JR, Hathaway ER, Kupa J, Taylor JA, Wang KH, Ganguly A, Deardorff MA, Kalish JM. Duffy KA, et al. Among authors: taylor ja. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):693-708. doi: 10.1002/ajmg.c.31740. Epub 2019 Aug 30. Am J Med Genet C Semin Med Genet. 2019. PMID: 31469230 Free PMC article.
Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.
Wenger TL, Perkins J, Parish-Morris J, Hing AV, Chen ML, Cielo CM, Li D, Bhoj EJ, Hakonarson H, Zackai E, McDonald-McGinn DM, Taylor JA, Jackson O, Sie K, Bly R, Dahl J, Evans KN. Wenger TL, et al. Among authors: taylor ja. Am J Med Genet A. 2021 Dec;185(12):3694-3700. doi: 10.1002/ajmg.a.62430. Epub 2021 Jul 22. Am J Med Genet A. 2021. PMID: 34291880
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T. Snijders Blok L, et al. Among authors: taylor ja. HGG Adv. 2022 Nov 1;4(1):100157. doi: 10.1016/j.xhgg.2022.100157. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36408368 Free PMC article.
1,580 results