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Journal of Medical Genetics|November 7, 2015
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndromeAnnmarie Hempel, Alistair T Pagnamenta, Moira Blyth, et al.American Journal of Human Genetics|December 27, 2016
De Novo Mutations in EBF3 Cause a Neurodevelopmental SyndromeHannah Sleven, Seth J Welsh, Jing Yu, et al.The Journal of Clinical Endocrinology and Metabolism|August 30, 2008
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type IAntonella Meloni, Maria Furcas, Filomena Cetani, et al.Oncotarget|January 8, 2019
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human heightKatrina Tatton-Brown, Sandra Hanks, Elise Ruark, et al.Oncotarget|December 23, 2011
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human heightKatrina Tatton-Brown, Sandra Hanks, Elise Ruark, et al.American Journal of Medical Genetics. Part A|September 27, 2016
Clinical and genetic aspects of KBG syndromeKaren Low, Tazeen Ashraf, Natalie Canham, et al.The Journal of Experimental Medicine|February 4, 2010
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type IAnne Puel, Rainer Döffinger, Angels Natividad, et al.The Lancet. Gastroenterology & Hepatology|May 1, 2018
Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing studyEleanor Fewings, Alexey Larionov, James Redman, et al.Nature Genetics|November 13, 2007
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissectionsDong-Chuan Guo, Hariyadarshi Pannu, Van Tran-Fadulu, et al.American Journal of Medical Genetics. Part A|November 12, 2013
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotypeKatrina Tatton-Brown, Anne Murray, Sandra Hanks, et al.Pageof 3