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American Journal of Human Genetics|February 4, 2017
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23John Y W Lee, Chao-Kai Hsu, Magdalene Michael, et al.
American Journal of Human Genetics|September 17, 2013
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunctionKatrin Koehler, Meera Malik, Saqib Mahmood, et al.
Human Mutation|February 4, 2014
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndromeRoberta Piras, Francesca Chiappe, Ilaria La Torraca, et al.
American Journal of Human Genetics|December 4, 2012
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndromeLina Basel-Vanagaite, Bruno Dallapiccola, Ramiro Ramirez-Solis, et al.
Human Mutation|February 20, 2013
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndromeMark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.
Human Molecular Genetics|October 8, 2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problemsRaman Kumar, Mark A Corbett, Bregje W M Van Bon, et al.
Nature Genetics|August 20, 2008
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaBirgit S Budde, Yasmin Namavar, Peter G Barth, et al.
Nature Genetics|November 7, 2006
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleBernward Hinkes, Roger C Wiggins, Rasheed Gbadegesin, et al.
Journal of Medical Genetics|January 15, 2013
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndromeChristopher T Gordon, Alice Vuillot, Sandrine Marlin, et al.
American Journal of Medical Genetics. Part A|September 9, 2018
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literatureParisa Hemati, Anya Revah-Politi, Haim Bassan, et al.
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