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Items: 3


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.

Genet Med. 2018 Sep;20(9):942-949. doi: 10.1038/gim.2017.239. Epub 2018 Feb 1.


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.

J Med Genet. 2017 Mar;54(3):157-165. doi: 10.1136/jmedgenet-2016-104143. Epub 2016 Oct 13.


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.

Mol Genet Metab Rep. 2016 Sep 24;9:19-24. eCollection 2016 Dec.

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