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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 25, 2019
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndromeKen McElreavey, Anne Jorgensen, Caroline Eozenou, et al.Human Mutation|July 26, 2012
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxaBert Callewaert, Chi-Ting Su, Tim Van Damme, et al.Elife|January 17, 2023
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disordersLydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, 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|June 7, 2022
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid featuresUwe Kornak, Namrata Saha, Boris Keren, et al.Nature Genetics|September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentSilvia Cappello, Mary J Gray, Caroline Badouel, et al.Human Mutation|November 3, 2011
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrumSandra Whalen, Delphine Héron, Thierry Gaillon, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 14, 2019
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2019
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndromeThomas Besnard, Natacha Sloboda, Alice Goldenberg, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 23, 2013
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literatureEdouard Cottereau, Isabelle Mortemousque, Marie-Pierre Moizard, et al.Pageof 13