David R. Adams

Affiliations: 
National Human Genome Research Institute, USA 
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"David Adams"
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Meissner LE, Macnamara EF, D'Souza P, et al. (2020) DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. Molecular Genetics & Genomic Medicine. e1544
Blanco-Sánchez B, Clément A, Stednitz SJ, et al. (2020) Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. Plos Genetics. 16: e1009156
Schoch K, Esteves C, Bican A, et al. (2020) Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Blanco-Sánchez B, Clément A, Stednitz SJ, et al. (2020) yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. Plos Genetics. 16: e1008841
Tambe MA, Ng BG, Shimada S, et al. (2020) Mutations in GET4 disrupt the transmembrane domain recognition complex pathway. Journal of Inherited Metabolic Disease
Davids M, Menezes M, Guo Y, et al. (2020) Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. Molecular Genetics and Metabolism
Ates KM, Wang T, Moreland T, et al. (2020) Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development. Disease Models & Mechanisms
Burke EA, Reichard KE, Wolfe LA, et al. (2020) A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease. American Journal of Medical Genetics. Part A
Baynam GS, Groft S, van der Westhuizen FH, et al. (2019) A call for global action for rare diseases in Africa. Nature Genetics
Kanca O, Andrews JC, Lee PT, et al. (2019) De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. 105: 672-674
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