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A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF. Gauthier J, et al. Among authors: thiffault i. Eur J Hum Genet. 2015 Sep;23(9):1266-8. doi: 10.1038/ejhg.2014.256. Epub 2014 Nov 19. Eur J Hum Genet. 2015. PMID: 25407000 Free PMC article.
Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.
Farrow E, Jay A, Means J, Younger S, Biswell R, Koseva B, Thiffault I, Pastinen T, Pappas K, Toriello H. Farrow E, et al. Among authors: thiffault i. Am J Med Genet A. 2023 Dec;191(12):2908-2912. doi: 10.1002/ajmg.a.63365. Epub 2023 Aug 7. Am J Med Genet A. 2023. PMID: 37548286 No abstract available.
A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.
Valdmanis PN, Dupré N, Lachance M, Stochmanski SJ, Belzil VV, Dion PA, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels ME, Rouleau GA. Valdmanis PN, et al. Among authors: thiffault i. Brain. 2011 Feb;134(Pt 2):602-7. doi: 10.1093/brain/awq329. Epub 2010 Nov 28. Brain. 2011. PMID: 21115467
Diversity of ARSACS mutations in French-Canadians.
Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B. Thiffault I, et al. Can J Neurol Sci. 2013 Jan;40(1):61-6. doi: 10.1017/s0317167100012968. Can J Neurol Sci. 2013. PMID: 23250129
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Schwartzentruber J, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, Thiffault I, Sheldon KM, Massicotte C, Patry L, Simon M, Zare AS, McKernan KJ; FORGE Canada Consortium; Michaud J, Boles RG, Deal CL, Desilets V, Shoubridge EA, Samuels ME. Schwartzentruber J, et al. Among authors: thiffault i. Hum Mutat. 2014 Nov;35(11):1285-9. doi: 10.1002/humu.22629. Epub 2014 Oct 18. Hum Mutat. 2014. PMID: 25130867
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J, Ellazam B, Webb N, Antonicka H, Janer A, Brunel-Guitton C, Elpeleg O, Mitchell G, Shoubridge EA. Sasarman F, et al. Among authors: thiffault i. Hum Mol Genet. 2015 May 15;24(10):2841-7. doi: 10.1093/hmg/ddv044. Epub 2015 Feb 4. Hum Mol Genet. 2015. PMID: 25652405 Free PMC article.
POLR3A variants in hereditary spastic paraplegia and ataxia.
Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G. Gauquelin L, et al. Among authors: thiffault i. Brain. 2018 Jan 1;141(1):e1. doi: 10.1093/brain/awx290. Brain. 2018. PMID: 29228109 Free PMC article. No abstract available.
136 results