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Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study.
Rousseau F, Langlois S, Johnson JA, Gekas J, Bujold E, Audibert F, Walker M, Giroux S, Caron A, Clément V, Blais J, MacLeod T, Moore R, Gauthier J, Jouan L, Laporte A, Diallo O, Parker J, Swanson L, Zhao Y, Labelle Y, Giguère Y, Forest JC, Little J, Karsan A, Rouleau G. Rousseau F, et al. Among authors: rouleau g. Eur J Hum Genet. 2019 Nov;27(11):1701-1715. doi: 10.1038/s41431-019-0443-0. Epub 2019 Jun 23. Eur J Hum Genet. 2019. PMID: 31231136 Free PMC article.
Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values.
Blais J, Giroux S, Caron A, Clément V, Dionne-Laporte A, Jouan L, Gauthier J, MacLeod T, Moore R, Parker J, Swanson L, Zhao Y, Rouleau G, Karsan A, Langlois S, Rousseau F. Blais J, et al. Among authors: rouleau g. Clin Biochem. 2018 Sep;59:69-77. doi: 10.1016/j.clinbiochem.2018.06.015. Epub 2018 Jun 27. Clin Biochem. 2018. PMID: 29958880 Free article.
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
Schönewolf-Greulich B, Tejada MI, Stephens K, Hadzsiev K, Gauthier J, Brøndum-Nielsen K, Pfundt R, Ravn K, Maortua H, Gener B, Martínez-Bouzas C, Piton A, Rouleau G, Clayton-Smith J, Kleefstra T, Bisgaard AM, Tümer Z. Schönewolf-Greulich B, et al. Among authors: rouleau g. Clin Genet. 2016 Jun;89(6):733-8. doi: 10.1111/cge.12769. Epub 2016 Apr 8. Clin Genet. 2016. PMID: 26936630
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: rouleau g. Clin Genet. 2019 Sep;96(3):199-206. doi: 10.1111/cge.13556. Epub 2019 May 30. Clin Genet. 2019. PMID: 31038196
Global characterization of copy number variants in epilepsy patients from whole genome sequencing.
Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, Gravel M, Spiegelman D, Dionne-Laporte A, Boelman C, Hamdan FF, Michaud JL, Rouleau G, Minassian BA, Bourque G, Cossette P. Monlong J, et al. Among authors: rouleau g. PLoS Genet. 2018 Apr 12;14(4):e1007285. doi: 10.1371/journal.pgen.1007285. eCollection 2018 Apr. PLoS Genet. 2018. PMID: 29649218 Free PMC article.
Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder.
Maier R, Moser G, Chen GB, Ripke S; Cross-Disorder Working Group of the Psychiatric Genomics Consortium; Coryell W, Potash JB, Scheftner WA, Shi J, Weissman MM, Hultman CM, Landén M, Levinson DF, Kendler KS, Smoller JW, Wray NR, Lee SH. Maier R, et al. Am J Hum Genet. 2015 Feb 5;96(2):283-94. doi: 10.1016/j.ajhg.2014.12.006. Epub 2015 Jan 29. Am J Hum Genet. 2015. PMID: 25640677 Free PMC article.
Family-based association study of common variants, rare mutation study and epistatic interaction detection in HDAC genes in schizophrenia.
Kebir O, Chaumette B, Fatjó-Vilas M, Ambalavanan A, Ramoz N, Xiong L, Mouaffak F, Millet B, Jaafari N, DeLisi LE, Levinson D, Joober R, Fañanás L, Rouleau G, Dubertret C, Krebs MO. Kebir O, et al. Among authors: rouleau g. Schizophr Res. 2014 Dec;160(1-3):97-103. doi: 10.1016/j.schres.2014.09.029. Epub 2014 Oct 18. Schizophr Res. 2014. PMID: 25445625
1,070 results