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Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
Orr A, Dubé MP, Marcadier J, Jiang H, Federico A, George S, Seamone C, Andrews D, Dubord P, Holland S, Provost S, Mongrain V, Evans S, Higgins B, Bowman S, Guernsey D, Samuels M. Orr A, et al. Among authors: provost s. PLoS One. 2007 Aug 1;2(8):e685. doi: 10.1371/journal.pone.0000685. PLoS One. 2007. PMID: 17668063 Free PMC article.
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
Guernsey DL, Jiang H, Evans SC, Ferguson M, Matsuoka M, Nightingale M, Rideout AL, Provost S, Bedard K, Orr A, Dubé MP, Ludman M, Samuels ME. Guernsey DL, et al. Among authors: provost s. Am J Hum Genet. 2009 Jul;85(1):120-9. doi: 10.1016/j.ajhg.2009.06.008. Epub 2009 Jul 2. Am J Hum Genet. 2009. PMID: 19576563 Free PMC article.
Mutations in a novel serine protease PRSS56 in families with nanophthalmos.
Orr A, Dubé MP, Zenteno JC, Jiang H, Asselin G, Evans SC, Caqueret A, Lakosha H, Letourneau L, Marcadier J, Matsuoka M, Macgillivray C, Nightingale M, Papillon-Cavanagh S, Perry S, Provost S, Ludman M, Guernsey DL, Samuels ME. Orr A, et al. Among authors: provost s. Mol Vis. 2011;17:1850-61. Epub 2011 Jul 12. Mol Vis. 2011. PMID: 21850159 Free PMC article.
Comparison of genotype clustering tools with rare variants.
Perreault LP, Legault MA, Barhdadi A, Provost S, Normand V, Tardif JC, Dubé MP. Perreault LP, et al. Among authors: provost s. BMC Bioinformatics. 2014 Feb 21;15:52. doi: 10.1186/1471-2105-15-52. BMC Bioinformatics. 2014. PMID: 24559245 Free PMC article.
CKM and LILRB5 are associated with serum levels of creatine kinase.
Dubé MP, Zetler R, Barhdadi A, Brown AM, Mongrain I, Normand V, Laplante N, Asselin G, Zada YF, Provost S, Bergeron J, Kouz S, Dufour R, Diaz A, de Denus S, Turgeon J, Rhéaume E, Phillips MS, Tardif JC. Dubé MP, et al. Among authors: provost s. Circ Cardiovasc Genet. 2014 Dec;7(6):880-6. doi: 10.1161/CIRCGENETICS.113.000395. Epub 2014 Sep 11. Circ Cardiovasc Genet. 2014. PMID: 25214527
146 results