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American Journal of Medical Genetics. Part A|September 27, 2016
Clinical and genetic aspects of KBG syndromeKaren Low, Tazeen Ashraf, Natalie Canham, et al.Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.Neurology|August 31, 2012
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth diseaseRobert D S Pitceathly, Sinéad M Murphy, Ellen Cottenie, et al.BMJ Open|February 22, 2022
How and why do women's groups (WGs) improve the quality of maternal and child health (MCH) care? A systematic review of the literatureKarla Canuto, Robyn Preston, Sam Rannard, et al.Frontiers in Public Health|April 8, 2020
WOmen's Action for Mums and Bubs (WOMB) Trial Protocol: A Non-randomized Stepped Wedge Implementation Trial of Participatory Women's Groups to Improve the Health of Aboriginal and Torres Strait Islander Mothers and Children in AustraliaKaren Carlisle, Catrina Felton-Busch, Yvonne Cadet-James, et al.Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.Journal of Medical Genetics|April 14, 2016
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditionsMaria Tropeano, Deirdre Howley, Matthew J Gazzellone, 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.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2020
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.Pageof 10