Human copy number variants are enriched in regions of low mappability

par Monlong, Jean, Cossette, Patrick, Meloche, Caroline, Rouleau, Guy, Girard, Simon L, Bourque, Guillaume
Publié dans Nucleic Acids Res (2018)

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

par Jouan, Loubna, Girard, Simon L, Dobrzeniecka, Sylvia, Ambalavanan, Amirthagowri, Krebs, Marie-Odile, Joober, Ridha, Gauthier, Julie, Dion, Patrick A, Rouleau, Guy A
Publié 2013

Polygenic risk scores of several subtypes of epilepsies in a founder population

par Moreau, Claudia, Rébillard, Rose-Marie, Wolking, Stefan, Michaud, Jacques, Tremblay, Frédérique, Girard, Alexandre, Bouchard, Joanie, Minassian, Berge, Laprise, Catherine, Cossette, Patrick, Girard, Simon L.
Publié dans Neurol Genet (2020)

Genome-wide estimates of heritability and genetic correlations in essential tremor

par Diez-Fairen, Monica, Bandres-Ciga, Sara, Houle, Gabrielle, Nalls, Mike A., Girard, Simon L., Dion, Patrick A., Blauwendraat, Cornelis, Singleton, Andrew B., Rouleau, Guy A., Pastor, Pau
Publié dans Parkinsonism Relat Disord (2019)

Mutation Burden of Rare Variants in Schizophrenia Candidate Genes

par 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.
Publié dans PLoS One (2015)

De novo variants in sporadic cases of childhood onset schizophrenia

par 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
Publié dans Eur J Hum Genet (2016)

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

par 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.
Publié 2009

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

par 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.
Publié dans PLoS One (2016)

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

par 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.
Publié dans Neurol Genet (2017)

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

par 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
Publié dans PLoS Genet (2018)

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

par 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.
Publié dans Hum Mol Genet (2015)

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

par Merner, Nancy D., Girard, Simon L., Catoire, Hélène, Bourassa, Cynthia V., Belzil, Véronique V., Rivière, Jean-Baptiste, Hince, Pascale, Levert, Annie, Dionne-Laporte, Alexandre, Spiegelman, Dan, Noreau, Anne, Diab, Sabrina, Szuto, Anna, Fournier, Hélène, Raelson, John, Belouchi, Majid, Panisset, Michel, Cossette, Patrick, Dupré, Nicolas, Bernard, Geneviève, Chouinard, Sylvain, Dion, Patrick A., Rouleau, Guy A.
Publié 2012

The role of the melanoma gene MC1R in Parkinson disease and REM sleep Behavior Disorder

par Gan-Or, Ziv, Mohsin, Noreen, Girard, Simon L., Montplaisir, Jacques Y., Ambalavanan, Amirthagowri, Strong, Stephanie, Mallett, Victoria, Laurent, Sandra B., Bourassa, Cynthia V., Boivin, Michel, Langlois, Melanie, Arnulf, Isabelle, Högl, Birgit, Frauscher, Birgit, Monaca, Christelle, Desautels, Alex, Gagnon, Jean-François, Postuma, Ronald B., Dion, Patrick A., Dauvilliers, Yves, Dupre, Nicolas, Alcalay, Roy N., Rouleau, Guy A.
Publié dans Neurobiol Aging (2016)

Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy

par Wolking, Stefan, Moreau, Claudia, McCormack, Mark, Krause, Roland, Krenn, Martin, Berkovic, Samuel, Cavalleri, Gianpiero L., Delanty, Norman, Depondt, Chantal, Johnson, Michael R., Koeleman, Bobby P. C., Kunz, Wolfram S., Lerche, Holger, Marson, Anthony G., O’Brien, Terence J., Petrovski, Slave, Sander, Josemir W., Sills, Graeme J., Striano, Pasquale, Zara, Federico, Zimprich, Fritz, Sisodiya, Sanjay M., Girard, Simon L., Cossette, Patrick
Publié dans Ann Clin Transl Neurol (2021)

Functional variants of POC5 identified in patients with idiopathic scoliosis

par 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, Liao, Meijiang, Lamy, Raphaelle, Lesca, Gaetan, Menassa, Rita, Marcaillou, Charles, Letexier, Melanie, Sanlaville, Damien, Berard, Jerome, Rouleau, Guy A., Clerget-Darpoux, Françoise, Drapeau, Pierre, Moldovan, Florina, Edery, Patrick
Publié dans J Clin Invest (2015)

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

par 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.
Publié dans Brain (2016)

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

par Hamdan, Fadi F., Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Schneider, Amy, Hollingsworth, Georgie, FitzPatrick, David R., Donaldson, Alan, Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E., Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Chung, Wendy K., Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Õunap, Katrin, Wojcik, Monica H., Albert, Dara V.F., Venkateswaran, Sunita, Ware, Tyson, Jones, Dean, Liu, Yu-Chi, Mohammad, Shekeeb S., Bizargity, Peyman, Bacino, Carlos A., Leuzzi, Vincenzo, Martinelli, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Blumkin, Lubov, Wierenga, Klaas J., Purcarin, Gabriela, O’Byrne, James J., Stockler, Sylvia, Lehman, Anna, Keren, Boris, Nougues, Marie-Christine, Mignot, Cyril, Auvin, Stéphane, Nava, Caroline, Hiatt, Susan M., Bebin, Martina, Shao, Yunru, Scaglia, Fernando, Lalani, Seema R., Frye, Richard E., Jarjour, Imad T., Jacques, Stéphanie, Boucher, Renee-Myriam, Riou, Emilie, Srour, Myriam, Carmant, Lionel, Lortie, Anne, Major, Philippe, Diadori, Paola, Dubeau, François, D’Anjou, Guy, Bourque, Guillaume, Berkovic, Samuel F., Sadleir, Lynette G., Campeau, Philippe M., Kibar, Zoha, Lafrenière, Ronald G., Girard, Simon L., Mercimek-Mahmutoglu, Saadet, Boelman, Cyrus, Rouleau, Guy A., Scheffer, Ingrid E., Mefford, Heather C., Andrade, Danielle M., Rossignol, Elsa, Minassian, Berge A., Michaud, Jacques L.
Publié dans Am J Hum Genet (2017)

Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture

par Davis, Lea K., Yu, Dongmei, Keenan, Clare L., Gamazon, Eric R., Konkashbaev, Anuar I., Derks, Eske M., Neale, Benjamin M., Yang, Jian, Lee, S. Hong, Evans, Patrick, Barr, Cathy L., Bellodi, Laura, Benarroch, Fortu, Berrio, Gabriel Bedoya, Bienvenu, Oscar J., Bloch, Michael H., Blom, Rianne M., Bruun, Ruth D., Budman, Cathy L., Camarena, Beatriz, Campbell, Desmond, Cappi, Carolina, Cardona Silgado, Julio C., Cath, Danielle C., Cavallini, Maria C., Chavira, Denise A., Chouinard, Sylvain, Conti, David V., Cook, Edwin H., Coric, Vladimir, Cullen, Bernadette A., Deforce, Dieter, Delorme, Richard, Dion, Yves, Edlund, Christopher K., Egberts, Karin, Falkai, Peter, Fernandez, Thomas V., Gallagher, Patience J., Garrido, Helena, Geller, Daniel, Girard, Simon L., Grabe, Hans J., Grados, Marco A., Greenberg, Benjamin D., Gross-Tsur, Varda, Haddad, Stephen, Heiman, Gary A., Hemmings, Sian M. J., Hounie, Ana G., Illmann, Cornelia, Jankovic, Joseph, Jenike, Michael A., Kennedy, James L., King, Robert A., Kremeyer, Barbara, Kurlan, Roger, Lanzagorta, Nuria, Leboyer, Marion, Leckman, James F., Lennertz, Leonhard, Liu, Chunyu, Lochner, Christine, Lowe, Thomas L., Macciardi, Fabio, McCracken, James T., McGrath, Lauren M., Mesa Restrepo, Sandra C., Moessner, Rainald, Morgan, Jubel, Muller, Heike, Murphy, Dennis L., Naarden, Allan L., Ochoa, William Cornejo, Ophoff, Roel A., Osiecki, Lisa, Pakstis, Andrew J., Pato, Michele T., Pato, Carlos N., Piacentini, John, Pittenger, Christopher, Pollak, Yehuda, Rauch, Scott L., Renner, Tobias J., Reus, Victor I., Richter, Margaret A., Riddle, Mark A., Robertson, Mary M., Romero, Roxana, Rosàrio, Maria C., Rosenberg, David, Rouleau, Guy A., Ruhrmann, Stephan, Ruiz-Linares, Andres, Sampaio, Aline S., Samuels, Jack, Sandor, Paul, Sheppard, Brooke, Singer, Harvey S., Smit, Jan H., Stein, Dan J., Strengman, E., Tischfield, Jay A., Valencia Duarte, Ana V., Vallada, Homero, Van Nieuwerburgh, Filip, Veenstra-VanderWeele, Jeremy, Walitza, Susanne, Wang, Ying, Wendland, Jens R., Westenberg, Herman G. M., Shugart, Yin Yao, Miguel, Euripedes C., McMahon, William, Wagner, Michael, Nicolini, Humberto, Posthuma, Danielle, Hanna, Gregory L., Heutink, Peter, Denys, Damiaan, Arnold, Paul D., Oostra, Ben A., Nestadt, Gerald, Freimer, Nelson B., Pauls, David L., Wray, Naomi R., Stewart, S. Evelyn, Mathews, Carol A., Knowles, James A., Cox, Nancy J., Scharf, Jeremiah M.
Publié 2013

Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette Syndrome and Obsessive-Compulsive Disorder

par Yu, Dongmei, Mathews, Carol A., Scharf, Jeremiah M., Neale, Benjamin M., Davis, Lea K., Gamazon, Eric R., Derks, Eske M., Evans, Patrick, Edlund, Christopher K., Crane, Jacquelyn, Fagerness, Jesen A., Osiecki, Lisa, Gallagher, Patience, Gerber, Gloria, Haddad, Stephen, Illmann, Cornelia, McGrath, Lauren M., Mayerfeld, Catherine, Arepalli, Sampath, Barlassina, Cristina, Barr, Cathy L., Bellodi, Laura, Benarroch, Fortu, Berrió, Gabriel Bedoya, Bienvenu, O. Joseph, Black, Donald, Bloch, Michael H., Brentani, Helena, Bruun, Ruth D., Budman, Cathy L., Camarena, Beatriz, Campbell, Desmond D., Cappi, Carolina, Cardona Silgado, Julio C., Cavallini, Maria C., Chavira, Denise A., Chouinard, Sylvain, Cook, Edwin H., Cookson, M. R., Coric, Vladimir, Cullen, Bernadette, Cusi, Daniele, Delorme, Richard, Denys, Damiaan, Dion, Yves, Eapen, Valsama, Egberts, Karin, Falkai, Peter, Fernandez, Thomas, Fournier, Eduardo, Garrido, Helena, Geller, Daniel, Gilbert, Donald, Girard, Simon L., Grabe, Hans J., Grados, Marco A., Greenberg, Benjamin D., Gross-Tsur, Varda, Grünblatt, Edna, Hardy, John, Heiman, Gary A., Hemmings, Sian M.J., Herrera, Luis D., Hezel, Dianne M., Hoekstra, Pieter J., Jankovic, Joseph, Kennedy, James L., King, Robert A., Konkashbaev, Anuar I., Kremeyer, Barbara, Kurlan, Roger, Lanzagorta, Nuria, Leboyer, Marion, Leckman, James F., Lennertz, Leonhard, Liu, Chunyu, Lochner, Christine, Lowe, Thomas L., Lupoli, Sara, Macciardi, Fabio, Maier, Wolfgang, Manunta, Paolo, Marconi, Maurizio, McCracken, James T., Mesa Restrepo, Sandra C., Moessner, Rainald, Moorjani, Priya, Morgan, Jubel, Muller, Heike, Murphy, Dennis L., Naarden, Allan L., Ochoa, William Cornejo, Ophoff, Roel A., Pakstis, Andrew J., Pato, Michele T., Pato, Carlos N., Piacentini, John, Pittenger, Christopher, Pollak, Yehuda, Rauch, Scott L., Renner, Tobias, Reus, Victor I., Richter, Margaret A., Riddle, Mark A., Robertson, Mary M., Romero, Roxana, Rosário, Maria C., Rosenberg, David, Ruhrmann, Stephan, Sabatti, Chiara, Salvi, Erika, Sampaio, Aline S., Samuels, Jack, Sandor, Paul, Service, Susan K., Sheppard, Brooke, Singer, Harvey S., Smit, Jan H., Stein, Dan J., Strengman, Eric, Tischfield, Jay A., Turiel, Maurizio, Valencia Duarte, Ana V., Vallada, Homero, Veenstra-VanderWeele, Jeremy, Walitza, Susanne, Walkup, John, Wang, Ying, Weale, Mike, Weiss, Robert, Wendland, Jens R., Westenberg, Herman G.M., Yao, Yin, Hounie, Ana G., Miguel, Euripedes C., Nicolini, Humberto, Wagner, Michael, Ruiz-Linares, Andres, Cath, Danielle C., McMahon, William, Posthuma, Danielle, Oostra, Ben A., Nestadt, Gerald, Rouleau, Guy A., Purcell, Shaun, Jenike, Michael A., Heutink, Peter, Hanna, Gregory L., Conti, David V., Arnold, Paul D., Freimer, Nelson, Stewart, S. Evelyn, Knowles, James A., Cox, Nancy J., Pauls, David L.
Publié dans Am J Psychiatry (2014)