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PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.
BMC Med Genomics. 2014 May 12;7:22. doi: 10.1186/1755-8794-7-22.
BMC Med Genomics. 2014.
PMID: 24884844
Free PMC article.
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. Among authors: buote c.
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.
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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. Among authors: buote c.
Neurol Genet. 2020 Mar 13;6(2):e408. doi: 10.1212/NXG.0000000000000408. eCollection 2020 Apr.
Neurol Genet. 2020.
PMID: 32337335
Free PMC article.
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