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162 results

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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. Schaaf CP, et al. Nat Genet. 2013 Nov;45(11):1405-8. doi: 10.1038/ng.2776. Epub 2013 Sep 29. Nat Genet. 2013. PMID: 24076603 Free PMC article.
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
Hao YH, Fountain MD Jr, Fon Tacer K, Xia F, Bi W, Kang SH, Patel A, Rosenfeld JA, Le Caignec C, Isidor B, Krantz ID, Noon SE, Pfotenhauer JP, Morgan TM, Moran R, Pedersen RC, Saenz MS, Schaaf CP, Potts PR. Hao YH, et al. Among authors: schaaf cp. Mol Cell. 2015 Sep 17;59(6):956-69. doi: 10.1016/j.molcel.2015.07.033. Epub 2015 Sep 10. Mol Cell. 2015. PMID: 26365382 Free PMC article.
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: schaaf cp. 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.
Imprinting: the Achilles heel of trio-based exome sequencing.
Aten E, Fountain MD, van Haeringen A, Schaaf CP, Santen GW. Aten E, et al. Among authors: schaaf cp. Genet Med. 2016 Nov;18(11):1163-1164. doi: 10.1038/gim.2016.128. Epub 2016 Sep 15. Genet Med. 2016. PMID: 27632685 Free article. No abstract available.
Autism genetics - an overview.
Yin J, Schaaf CP. Yin J, et al. Among authors: schaaf cp. Prenat Diagn. 2017 Jan;37(1):14-30. doi: 10.1002/pd.4942. Epub 2016 Nov 10. Prenat Diagn. 2017. PMID: 27743394 Review.
Genetic causes of optic nerve hypoplasia.
Chen CA, Yin J, Lewis RA, Schaaf CP. Chen CA, et al. Among authors: schaaf cp. J Med Genet. 2017 Jul;54(7):441-449. doi: 10.1136/jmedgenet-2017-104626. Epub 2017 May 13. J Med Genet. 2017. PMID: 28501829 Review.
162 results