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Page 1
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: mostafavi s. 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.
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: mostafavi s. 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.
Biological embedding of experience: A primer on epigenetics.
Aristizabal MJ, Anreiter I, Halldorsdottir T, Odgers CL, McDade TW, Goldenberg A, Mostafavi S, Kobor MS, Binder EB, Sokolowski MB, O'Donnell KJ. Aristizabal MJ, et al. Among authors: mostafavi s. Proc Natl Acad Sci U S A. 2020 Sep 22;117(38):23261-23269. doi: 10.1073/pnas.1820838116. Epub 2019 Oct 17. Proc Natl Acad Sci U S A. 2020. PMID: 31624126 Free PMC article. Review.
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN; Care4Rare Canada Consortium; Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L. Whalen S, et al. Eur J Hum Genet. 2021 Sep;29(9):1405-1417. doi: 10.1038/s41431-021-00821-0. Epub 2021 Feb 18. Eur J Hum Genet. 2021. PMID: 33603160 Free PMC article.
The TLR9 agonist (GNKG168) induces a unique immune activation pattern in vivo in children with minimal residual disease positive acute leukemia: Results of the TACL T2009-008 phase I study.
Ronsley R, Kariminia A, Ng B, Mostafavi S, Reid G, Subrt P, Hijiya N, Schultz KR. Ronsley R, et al. Among authors: mostafavi s. Pediatr Hematol Oncol. 2019 Nov;36(8):468-481. doi: 10.1080/08880018.2019.1667461. Epub 2019 Sep 18. Pediatr Hematol Oncol. 2019. PMID: 31530240 Clinical Trial.
352 results