Thuriot F - Search Results

1

Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.

Thuriot F, Gravel E, Hodson K, Ganopolsky J, Rakic B, Waters PJ, Gravel S, Lévesque S. Thuriot F, et al. J Clin Med. 2021 Aug 28;10(17):3868. doi: 10.3390/jcm10173868. J Clin Med. 2021. PMID: 34501319 Free PMC article.

2

Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data.

Thuriot F, Buote C, Gravel E, Chénier S, Désilets V, Maranda B, Waters PJ, Jacques PE, Lévesque S. Thuriot F, et al. Genet Med. 2018 Sep;20(9):942-949. doi: 10.1038/gim.2017.239. Epub 2018 Feb 1. Genet Med. 2018. PMID: 29388948 Free article.

3

Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective.

Thuriot F, Gravel E, Buote C, Doyon M, Lapointe E, Marcoux L, Larue S, Nadeau A, Chénier S, Waters PJ, Jacques PÉ, Gravel S, Lévesque S. Thuriot F, et al. Neurol Genet. 2020 Mar 13;6(2):e408. doi: 10.1212/NXG.0000000000000408. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32337335 Free PMC article.

4

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.

Waters PJ, Thuriot F, Clarke JT, Gravel S, Watkins D, Rosenblatt DS, Lévesque S. Waters PJ, et al. Among authors: thuriot f. Mol Genet Metab Rep. 2016 Sep 24;9:19-24. doi: 10.1016/j.ymgmr.2016.09.001. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27699154 Free PMC article.

5

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.

Zha C, Farah CA, Holt RJ, Ceroni F, Al-Abdi L, Thuriot F, Khan AO, Helaby R, Lévesque S, Alkuraya FS, Kraus A, Ragge NK, Sossin WS. Zha C, et al. Among authors: thuriot f. Hum Mol Genet. 2020 Nov 4;29(18):3054-3063. doi: 10.1093/hmg/ddaa198. Hum Mol Genet. 2020. PMID: 32885237 Free PMC article.

6

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.

Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS, Bowen J, Calhoun AR, Viskochil DH; DDD Study; Bejerano G, Bernstein JA, Chitayat D. Balasubramanian M, et al. Among authors: thuriot f. J Med Genet. 2017 Mar;54(3):157-165. doi: 10.1136/jmedgenet-2016-104143. Epub 2016 Oct 13. J Med Genet. 2017. PMID: 27738187 Free article.

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