Found: 17

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  • Autosomal-dominant locus for restless legs syndrome in French-Canadians on chromosome 16p12.1.

    Published in:
    Movement Disorders, 2009, v. 24, n. 1, p. 40, doi. 10.1002/mds.22263
    By:
    • Levchenko, Anastasia;
    • Montplaisir, Jacques-Yves;
    • Asselin, Géraldine;
    • Provost, Sylvie;
    • Girard, Simon L.;
    • Xiong, Lan;
    • Lemyre, Emmanuelle;
    • St-Onge, Judith;
    • Thibodeau, Pascale;
    • Desautels, Alex;
    • Turecki, Gustavo;
    • Gaspar, Claudia;
    • Dubé, Marie-Pierre;
    • Rouleau, Guy A.
    Publication type:
    Article

  • Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 5, p. 1363, doi. 10.1093/hmg/ddu545
    By:
    • Kaneb, Hannah M.;
    • Folkmann, Andrew W.;
    • Belzil, Véronique V.;
    • Jao, Li-En;
    • Leblond, Claire S.;
    • Girard, Simon L.;
    • Daoud, Hussein;
    • Noreau, Anne;
    • Rochefort, Daniel;
    • Hince, Pascale;
    • Szuto, Anna;
    • Levert, Annie;
    • Vidal, Sabrina;
    • André-Guimont, Catherine;
    • Camu, William;
    • Bouchard, Jean-Pierre;
    • Dupré, Nicolas;
    • Rouleau, Guy A.;
    • Wente, Susan R.;
    • Dion, Patrick A.
    Publication type:
    Article

  • MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 6, p. 1065, doi. 10.1093/hmg/ddn443
    By:
    • Xiong, Lan;
    • Catoire, Hélène;
    • Dion, Patrick;
    • Gaspar, Claudia;
    • Lafrenière, Ronald G.;
    • Girard, Simon L.;
    • Levchenko, Anastasia;
    • Rivière, Jean-Baptiste;
    • Fiori, Laura;
    • St-Onge, Judith;
    • Bachand, Isabelle;
    • Thibodeau, Pascale;
    • Allen, Richard;
    • Earley, Christopher;
    • Turecki, Gustavo;
    • Montplaisir, Jacques;
    • Rouleau, Guy A.
    Publication type:
    Article

  • Genome-wide association study in essential tremor identifies three new loci.

    Published in:
    Brain: A Journal of Neurology, 2016, v. 139, n. 12, p. 3163, doi. 10.1093/brain/aww242
    By:
    • Müller, Stefanie H.;
    • Girard, Simon L.;
    • Hopfner, Franziska;
    • Merner, Nancy D.;
    • Bourassa, Cynthia V.;
    • Lorenz, Delia;
    • Clark, Lorraine N.;
    • Tittmann, Lukas;
    • Soto-Ortolaza, Alexandra I.;
    • Klebe, Stephan;
    • Hallett, Mark;
    • Schneider, Susanne A.;
    • Hodgkinson, Colin A.;
    • Lieb, Wolfgang;
    • Wszolek, Zbigniew K.;
    • Pendziwiat, Manuela;
    • Lorenzo-Betancor, Oswaldo;
    • Poewe, Werner;
    • Ortega-Cubero, Sara;
    • Seppi, Klaus
    Publication type:
    Article

  • Increased exonic de novo mutation rate in individuals with schizophrenia.

    Published in:
    Nature Genetics, 2011, v. 43, n. 9, p. 860, doi. 10.1038/ng.886
    By:
    • Girard, Simon L.;
    • Gauthier, Julie;
    • Noreau, Anne;
    • Xiong, Lan;
    • Zhou, Sirui;
    • Jouan, Loubna;
    • Dionne-Laporte, Alexandre;
    • Spiegelman, Dan;
    • Henrion, Edouard;
    • Diallo, Ousmane;
    • Thibodeau, Pascale;
    • Bachand, Isabelle;
    • Bao, Jessie Y. J.;
    • Tong, Amy Hin Yan;
    • Lin, Chi-Ho;
    • Millet, Bruno;
    • Jaafari, Nematollah;
    • Joober, Ridha;
    • Dion, Patrick A.;
    • Lok, Si
    Publication type:
    Article

  • Exome sequencing of sporadic childhood‐onset schizophrenia suggests the contribution of X‐linked genes in males.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 6, p. 335, doi. 10.1002/ajmg.b.32683
    By:
    • Ambalavanan, Amirthagowri;
    • Chaumette, Boris;
    • Zhou, Sirui;
    • Xie, Pingxing;
    • He, Qin;
    • Spiegelman, Dan;
    • Dionne‐Laporte, Alexandre;
    • Bourassa, Cynthia V.;
    • Therrien, Martine;
    • Rochefort, Daniel;
    • Xiong, Lan;
    • Dion, Patrick A.;
    • Joober, Ridha;
    • Rapoport, Judith L.;
    • Girard, Simon L.;
    • Rouleau, Guy A.
    Publication type:
    Article

  • Unraveling the role of non-coding rare variants in epilepsy.

    Published in:
    PLoS ONE, 2023, v. 18, n. 9, p. 1, doi. 10.1371/journal.pone.0291935
    By:
    • Girard, Alexandre;
    • Moreau, Claudia;
    • Michaud, Jacques L.;
    • Minassian, Berge;
    • Cossette, Patrick;
    • Girard, Simon L.
    Publication type:
    Article

  • Assessment of burden and segregation profiles of CNVs in patients with epilepsy.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 7, p. 1050, doi. 10.1002/acn3.51598
    By:
    • Moreau, Claudia;
    • Tremblay, Frédérique;
    • Wolking, Stefan;
    • Girard, Alexandre;
    • Laprise, Catherine;
    • Hamdan, Fadi F.;
    • Michaud, Jacques L.;
    • Minassian, Berge A.;
    • Cossette, Patrick;
    • Girard, Simon L.
    Publication type:
    Article

  • Functional variants of P0C5 identified in patients with idiopathic scoliosis.

    Published in:
    Journal of Clinical Investigation, 2015, v. 125, n. 3, p. 1124, doi. 10.1172/JCI77262
    By:
    • Patten, Shunmoogum A.;
    • Margaritte-Jeannin, Patricia;
    • Bernard, Jean-Claude;
    • Alix, Eudeline;
    • Labalme, Audrey;
    • Besson, Alicia;
    • Girard, Simon L.;
    • Fendri, Khaled;
    • Fraisse, Nicolas;
    • Biot, Bernard;
    • Poizat, Coline;
    • Campan-Fournier, Amandine;
    • Abelin-Genevois, Kariman;
    • Cunin, Vincent;
    • Zaouter, Charlotte;
    • Meijiang Liao;
    • Lamy, Raphaelle;
    • Lesca, Gaetan;
    • Menassa, Rita;
    • Marcaillou, Charles
    Publication type:
    Article

  • Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis.

    Published in:
    JAMA Neurology, 2022, v. 79, n. 2, p. 185, doi. 10.1001/jamaneurol.2021.4781
    By:
    • Liao, Calwing;
    • Castonguay, Charles-Etienne;
    • Heilbron, Karl;
    • Vuokila, Veikko;
    • Medeiros, Miranda;
    • Houle, Gabrielle;
    • Akçimen, Fulya;
    • Ross, Jay P.;
    • Catoire, Helene;
    • Diez-Fairen, Monica;
    • Kang, Jooeun;
    • Mueller, Stefanie H.;
    • Girard, Simon L.;
    • Hopfner, Franziska;
    • Lorenz, Delia;
    • Clark, Lorraine N.;
    • Soto-Beasley, Alexandra I.;
    • Klebe, Stephan;
    • Hallett, Mark;
    • Wszolek, Zbigniew K.
    Publication type:
    Article

  • Human copy number variants are enriched in regions of low mappability.

    Published in:
    Nucleic Acids Research, 2018, v. 46, n. 14, p. 7236, doi. 10.1093/nar/gky538
    By:
    • Monlong, Jean;
    • Cossette, Patrick;
    • Meloche, Caroline;
    • Rouleau, Guy;
    • Girard, Simon L;
    • Bourque, Guillaume
    Publication type:
    Article

  • Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals.

    Published in:
    PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164212
    By:
    • Girard, Simon L.;
    • Bourassa, Cynthia V.;
    • Lemieux Perreault, Louis-Philippe;
    • Legault, Marc-André;
    • Barhdadi, Amina;
    • Ambalavanan, Amirthagowri;
    • Brendgen, Mara;
    • Vitaro, Frank;
    • Noreau, Anne;
    • Dionne, Ginette;
    • Tremblay, Richard E.;
    • Dion, Patrick A.;
    • Boivin, Michel;
    • Dubé, Marie-Pierre;
    • Rouleau, Guy A.
    Publication type:
    Article

  • Impact of Paternal Age at Conception on Human Health.

    Published in:
    Clinical Chemistry, 2019, v. 65, n. 1, p. 146, doi. 10.1373/clinchem.2018.294421
    By:
    • Simard, Mathieu;
    • Laprise, Catherine;
    • Girard, Simon L.
    Publication type:
    Article

  • Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease.

    Published in:
    Behavioral & Brain Functions, 2013, v. 9, n. 1, p. 1, doi. 10.1186/1744-9081-9-9
    By:
    • Jouan, Loubna;
    • Girard, Simon L.;
    • Dobrzeniecka, Sylvia;
    • Ambalavanan, Amirthagowri;
    • Krebs, Marie-Odile;
    • Joober, Ridha;
    • Gauthier, Julie;
    • Dion, Patrick A.;
    • Rouleau, Guy A.
    Publication type:
    Article

  • Global characterization of copy number variants in epilepsy patients from whole genome sequencing.

    Published in:
    PLoS Genetics, 2018, v. 14, n. 4, p. 1, doi. 10.1371/journal.pgen.1007285
    By:
    • Monlong, Jean;
    • Girard, Simon L.;
    • Meloche, Caroline;
    • Cadieux-Dion, Maxime;
    • Andrade, Danielle M.;
    • Lafreniere, Ron G.;
    • Gravel, Micheline;
    • Spiegelman, Dan;
    • Dionne-Laporte, Alexandre;
    • Boelman, Cyrus;
    • Hamdan, Fadi F.;
    • Michaud, Jacques L.;
    • Rouleau, Guy;
    • Minassian, Berge A.;
    • Bourque, Guillaume;
    • Cossette, Patrick
    Publication type:
    Article

  • Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis.

    Published in:
    Annals of Neurology, 2011, v. 70, n. 1, p. 170, doi. 10.1002/ana.22435
    By:
    • Catoire, Hélène;
    • Dion, Patrick A.;
    • Xiong, Lan;
    • Amari, Mourabit;
    • Gaudet, Rebecca;
    • Girard, Simon L.;
    • Noreau, Anne;
    • Gaspar, Claudia;
    • Turecki, Gustavo;
    • Montplaisir, Jacques Y.;
    • Parker, J. Alex;
    • Rouleau, Guy A.
    Publication type:
    Article

  • Mutation Burden of Rare Variants in Schizophrenia Candidate Genes.

    Published in:
    PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0128988
    By:
    • Girard, Simon L.;
    • Dion, Patrick A.;
    • Bourassa, Cynthia V.;
    • Geoffroy, Steve;
    • Lachance-Touchette, Pamela;
    • Barhdadi, Amina;
    • Langlois, Mathieu;
    • Joober, Ridha;
    • Krebs, Marie-Odile;
    • Dubé, Marie-Pierre;
    • Rouleau, Guy A.
    Publication type:
    Article