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American Journal of Human Genetics|December 13, 2016
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular DiseaseDong-Chuan Guo, Xue-Yan Duan, Ellen S Regalado, et al.American Journal of Medical Genetics. Part A|November 24, 2004
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutationsJoyce So, Vanessa Suckow, Zofia Kijas, et al.European Journal of Human Genetics : EJHG|November 13, 2008
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21Robert Lyle, Frédérique Béna, Sarantis Gagos, et al.European Journal of Human Genetics : EJHG|April 16, 2009
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defectsEmma Hilton, Jennifer Johnston, Sandra Whalen, et al.Plos Genetics|March 28, 2017
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignanciesRocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, et al.Pageof 6