Works matching AU Girard, Simon L.

Results: 18

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

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

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

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

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

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

Fine-scale genetic structure and rare variant frequencies.

Published in:

PLoS ONE, 2024, v. 19, n. 11, p. 1, doi. 10.1371/journal.pone.0313133

By:

Gagnon, Laurence;
Moreau, Claudia;
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

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

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

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

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

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

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

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

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

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