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American Journal of Medical Genetics. Part A|May 1, 2021
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)Kristen K Rosano, Daniel J Wegner, Marwan Shinawi, et al.American Journal of Medical Genetics. Part A|May 5, 2021
Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approachRachel M Wolfe, Al-Walid Mohsen, Cate Walsh Vockley, et al.American Journal of Medical Genetics. Part A|May 5, 2021
A novel de novo intronic variant in ITPR1 causes Gillespie syndromeLaura Keehan, Ming-Ming Jiang, Xiaohui Li, et al.American Journal of Medical Genetics. Part A|May 11, 2021
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating allelesTomoko Uehara, Rikako Sanuki, Yurie Ogura, et al.American Journal of Medical Genetics. Part A|May 7, 2021
Next-generation sequencing and the evolution of data sharingNara Lygia de Macena Sobreira, Ada HamoshAmerican Journal of Medical Genetics. Part A|May 7, 2021
A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213Alanna Strong, Gina O'Grady, Evelyn Shih, et al.American Journal of Medical Genetics. Part A|May 10, 2021
Cardiac abnormalities in girls with Turner syndrome: ECG abnormalities, myocardial strain imaging, and karyotype-phenotype associationsIris D Noordman, Zina Fejzic, Melanie Bos, et al.American Journal of Medical Genetics. Part A|May 20, 2015
A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformationsAntonio Bravo-Oro, Iosif W Lurie, Gabriela Elizondo-Cárdenas, et al.American Journal of Medical Genetics. Part A|May 9, 2015
Chromosome fragility at FRAXA in human cleavage stage embryos at risk for fragile X syndromePieter Verdyck, Veerle Berckmoes, Anick De Vos, et al.American Journal of Medical Genetics. Part A|July 4, 2015
Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndromeJ Lloyd Holder, Sau-Wai CheungPageof 928