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Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, Myers T, Proud V, Vergano S, Spangler B, Farrow E, Kussman J, Safina N; Care4Rare Consortium; Saunders C, Boycott KM, Thiffault I. Kernohan KD, et al. Among authors: pupavac m. Hum Mutat. 2017 May;38(5):511-516. doi: 10.1002/humu.23196. Epub 2017 Mar 6. Hum Mutat. 2017. PMID: 28185376
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.
Pupavac M, Watkins D, Petrella F, Fahiminiya S, Janer A, Cheung W, Gingras AC, Pastinen T, Muenzer J, Majewski J, Shoubridge EA, Rosenblatt DS. Pupavac M, et al. Hum Mutat. 2016 Sep;37(9):976-82. doi: 10.1002/humu.23037. Epub 2016 Jul 12. Hum Mutat. 2016. PMID: 27349184
A RaDiCAL gene hunt.
Pupavac M, Zawati MH, Rosenblatt DS. Pupavac M, et al. J Taibah Univ Med Sci. 2017 Jan 19;12(3):194-198. doi: 10.1016/j.jtumed.2016.11.007. eCollection 2017 Jun. J Taibah Univ Med Sci. 2017. PMID: 31435239 Free PMC article. Review.
Expression of Mmachc and Mmadhc during mouse organogenesis.
Pupavac M, Garcia MA, Rosenblatt DS, Jerome-Majewska LA. Pupavac M, et al. Mol Genet Metab. 2011 Aug;103(4):401-5. doi: 10.1016/j.ymgme.2011.04.004. Epub 2011 Apr 17. Mol Genet Metab. 2011. PMID: 21536470
Corrigendum to "Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations." [Mol. Genet. Metab. (Aug 2016); 118(4): 264-71].
Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS. Chu J, et al. Among authors: pupavac m. Mol Genet Metab. 2017 Mar;120(3):295. doi: 10.1016/j.ymgme.2016.11.001. Mol Genet Metab. 2017. PMID: 28284539 No abstract available.
15 results