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Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.
Graham E, Lee J, Price M, Tarailo-Graovac M, Matthews A, Engelke U, Tang J, Kluijtmans LAJ, Wevers RA, Wasserman WW, van Karnebeek CDM, Mostafavi S. Graham E, et al. Among authors: wasserman ww. J Inherit Metab Dis. 2018 May;41(3):435-445. doi: 10.1007/s10545-018-0139-6. Epub 2018 May 2. J Inherit Metab Dis. 2018. PMID: 29721916 Free PMC article. Review.
Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy.
Richmond PA, van der Kloet F, Vaz FM, Lin D, Uzozie A, Graham E, Kobor M, Mostafavi S, Moerland PD, Lange PF, van Kampen AHC, Wasserman WW, Engelen M, Kemp S, van Karnebeek CDM. Richmond PA, et al. Among authors: wasserman ww. Front Cell Dev Biol. 2020 Jun 25;8:520. doi: 10.3389/fcell.2020.00520. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32671069 Free PMC article.
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
van Karnebeek CD, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A. van Karnebeek CD, et al. Among authors: wasserman ww. Nat Genet. 2016 Jul;48(7):777-84. doi: 10.1038/ng.3578. Epub 2016 May 23. Nat Genet. 2016. PMID: 27213289 Free article.
221 results