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Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA; WGS500 Consortium; van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO. Twigg SR, et al. Among authors: mathijssen im. Am J Hum Genet. 2015 Sep 3;97(3):378-88. doi: 10.1016/j.ajhg.2015.07.007. Am J Hum Genet. 2015. PMID: 26340333 Free PMC article.
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
Twigg SR, Matsumoto K, Kidd AM, Goriely A, Taylor IB, Fisher RB, Hoogeboom AJ, Mathijssen IM, Lourenco MT, Morton JE, Sweeney E, Wilson LC, Brunner HG, Mulliken JB, Wall SA, Wilkie AO. Twigg SR, et al. Among authors: mathijssen im. Am J Hum Genet. 2006 Jun;78(6):999-1010. doi: 10.1086/504440. Epub 2006 Apr 28. Am J Hum Genet. 2006. PMID: 16685650 Free PMC article.
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR, Wilkie AO. Jenkins D, et al. Among authors: mathijssen im. Am J Hum Genet. 2007 Jun;80(6):1162-70. doi: 10.1086/518047. Epub 2007 Apr 18. Am J Hum Genet. 2007. PMID: 17503333 Free PMC article.
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
Twigg SR, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IM, Wilkie AO. Twigg SR, et al. Among authors: mathijssen im. Am J Hum Genet. 2009 May;84(5):698-705. doi: 10.1016/j.ajhg.2009.04.009. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409524 Free PMC article.
220 results