Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia

por Merner, Nancy D., Chandler, Madison R., Bourassa, Cynthia, Liang, Bo, Khanna, Arjun R., Dion, Patrick, Rouleau, Guy A., Kahle, Kristopher T.
Publicado 2015

Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette’s syndrome

por Liao, Calwing, Vuokila, Veikko, Catoire, Hélène, Akçimen, Fulya, Ross, Jay P., Bourassa, Cynthia V., Dion, Patrick A., Meijer, Inge A., Rouleau, Guy A.
Publicado 2022

LINGO1 Variants in the French-Canadian Population

por Bourassa, Cynthia V., Rivière, Jean-Baptiste, Dion, Patrick A., Bernard, Geneviève, Diab, Sabrina, Panisset, Michel, Chouinard, Sylvain, Dupré, Nicolas, Fournier, Hélène, Raelson, John, Belouchi, Majid, Rouleau, Guy A.
Publicado 2011

Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population

por Zhou, Sirui, Xiong, Lan, Xie, Pingxing, Ambalavanan, Amirthagowri, Bourassa, Cynthia V., Dionne-Laporte, Alexandre, Spiegelman, Dan, Turcotte Gauthier, Maude, Henrion, Edouard, Diallo, Ousmane, Dion, Patrick A., Rouleau, Guy A.
Publicado 2015

Mutation Burden of Rare Variants in Schizophrenia Candidate Genes

por 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.
Publicado 2015

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

por Akçimen, Fulya, Ross, Jay P., Bourassa, Cynthia V., Liao, Calwing, Rochefort, Daniel, Gama, Maria Thereza Drumond, Dicaire, Marie-Josée, Barsottini, Orlando G., Brais, Bernard, Pedroso, José Luiz, Dion, Patrick A., Rouleau, Guy A.
Publicado 2019

De novo variants in sporadic cases of childhood onset schizophrenia

por Ambalavanan, Amirthagowri, Girard, Simon L, Ahn, Kwangmi, Zhou, Sirui, Dionne-Laporte, Alexandre, Spiegelman, Dan, Bourassa, Cynthia V, Gauthier, Julie, Hamdan, Fadi F, Xiong, Lan, Dion, Patrick A, Joober, Ridha, Rapoport, Judith, Rouleau, Guy A
Publicado 2016

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

por Zhou, Sirui, Gan-Or, Ziv, Ambalavanan, Amirthagowri, Lai, Dongbing, Xie, Pingxing, Bourassa, Cynthia V., Strong, Stephanie, Ross, Jay P., Dionne-Laporte, Alexandre, Spiegelman, Dan, Dupré, Nicolas, Foroud, Tatiana M, Xiong, Lan, Dion, Patrick A., Rouleau, Guy A.
Publicado 2018

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

por 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.
Publicado 2016

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor

por Houle, Gabrielle, Ambalavanan, Amirthagowri, Schmouth, Jean-François, Leblond, Claire S., Spiegelman, Dan, Laurent, Sandra B., Bourassa, Cynthia V., Grayson, Celene, Panisset, Michel, Chouinard, Sylvain, Dupré, Nicolas, Vilariño-Güell, Carles, Rajput, Alex, Girard, Simon L., Dion, Patrick A., Rouleau, Guy A.
Publicado 2017

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

por Akçimen, Fulya, Martins, Sandra, Liao, Calwing, Bourassa, Cynthia V., Catoire, Hélène, Nicholson, Garth A., Riess, Olaf, Raposo, Mafalda, França, Marcondes C., Vasconcelos, João, Lima, Manuela, Lopes-Cendes, Iscia, Saraiva-Pereira, Maria Luiza, Jardim, Laura B., Sequeiros, Jorge, Dion, Patrick A., Rouleau, Guy A.
Publicado 2020

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

por 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, Rajput, Alex, Hussl, Anna, Rajput, Ali H., Berg, Daniela, Dion, Patrick A., Wurster, Isabel, Shulman, Joshua M., Srulijes, Karin, Haubenberger, Dietrich, Pastor, Pau, Vilariño-Güell, Carles, Postuma, Ronald B., Bernard, Geneviève, Ladwig, Karl-Heinz, Dupré, Nicolas, Jankovic, Joseph, Strauch, Konstantin, Panisset, Michel, Winkelmann, Juliane, Testa, Claudia M., Reischl, Eva, Zeuner, Kirsten E., Ross, Owen A., Arzberger, Thomas, Chouinard, Sylvain, Deuschl, Günther, Louis, Elan D., Kuhlenbäumer, Gregor, Rouleau, Guy A.
Publicado 2016