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432 results

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Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
Callaghan DB, Rogic S, Tan PPC, Calli K, Qiao Y, Baldwin R, Jacobson M, Belmadani M, Holmes N, Yu C, Li Y, Li Y, Kurtzke FE, Kuzeljevic B, Yu AY, Hudson M, Mcaughton AJM, Xu Y, Dionne-Laporte A, Girard S, Liang P, Separovic ER, Liu X, Rouleau G, Pavlidis P, Lewis MES. Callaghan DB, et al. Among authors: girard s. Clin Genet. 2019 Sep;96(3):199-206. doi: 10.1111/cge.13556. Epub 2019 May 30. Clin Genet. 2019. PMID: 31038196
MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.
Xiong L, Catoire H, Dion P, Gaspar C, Lafrenière RG, Girard SL, Levchenko A, Rivière JB, Fiori L, St-Onge J, Bachand I, Thibodeau P, Allen R, Earley C, Turecki G, Montplaisir J, Rouleau GA. Xiong L, et al. Hum Mol Genet. 2009 Mar 15;18(6):1065-74. doi: 10.1093/hmg/ddn443. Epub 2009 Jan 6. Hum Mol Genet. 2009. PMID: 19126776 Free PMC article.
Increased exonic de novo mutation rate in individuals with schizophrenia.
Girard SL, Gauthier J, Noreau A, Xiong L, Zhou S, Jouan L, Dionne-Laporte A, Spiegelman D, Henrion E, Diallo O, Thibodeau P, Bachand I, Bao JY, Tong AH, Lin CH, Millet B, Jaafari N, Joober R, Dion PA, Lok S, Krebs MO, Rouleau GA. Girard SL, et al. Nat Genet. 2011 Jul 10;43(9):860-3. doi: 10.1038/ng.886. Nat Genet. 2011. PMID: 21743468
Exome sequencing identifies FUS mutations as a cause of essential tremor.
Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Rivière JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, Belouchi M, Panisset M, Cossette P, Dupré N, Bernard G, Chouinard S, Dion PA, Rouleau GA. Merner ND, et al. Among authors: girard sl. Am J Hum Genet. 2012 Aug 10;91(2):313-9. doi: 10.1016/j.ajhg.2012.07.002. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863194 Free PMC article.
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans.
Casals F, Hodgkinson A, Hussin J, Idaghdour Y, Bruat V, de Maillard T, Grenier JC, Gbeha E, Hamdan FF, Girard S, Spinella JF, Larivière M, Saillour V, Healy J, Fernández I, Sinnett D, Michaud JL, Rouleau GA, Haddad E, Le Deist F, Awadalla P. Casals F, et al. Among authors: girard s. PLoS Genet. 2013;9(9):e1003815. doi: 10.1371/journal.pgen.1003815. Epub 2013 Sep 26. PLoS Genet. 2013. PMID: 24086152 Free PMC article.
432 results