Novel de novo SHANK3 mutation in autistic patients
Gauthier, Julie, Spiegelman, Dan, Piton, Amélie, Lafrenière, Ronald G., Laurent, Sandra, St-Onge, Judith, Lapointe, Line, Hamdan, Fadi F., Cossette, Patrick, Mottron, Laurent, Fombonne, Éric, Joober, Ridha, Marineau, Claude, Drapeau, Pierre, Rouleau, Guy A.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.04.2009)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.04.2009)
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Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
Hamdan, Fadi F., Gauthier, Julie, Araki, Yoichi, Lin, Da-Ting, Yoshizawa, Yuhki, Higashi, Kyohei, Park, A-Reum, Spiegelman, Dan, Dobrzeniecka, Sylvia, Piton, Amélie, Tomitori, Hideyuki, Daoud, Hussein, Massicotte, Christine, Henrion, Edouard, Diallo, Ousmane, Shekarabi, Masoud, Marineau, Claude, Shevell, Michael, Maranda, Bruno, Mitchell, Grant, Nadeau, Amélie, D'Anjou, Guy, Vanasse, Michel, Srour, Myriam, Lafrenière, Ronald G., Drapeau, Pierre, Lacaille, Jean Claude, Kim, Eunjoon, Lee, Jae-Ran, Igarashi, Kazuei, Huganir, Richard L., Rouleau, Guy A., Michaud, Jacques L.
Published in American journal of human genetics (11.03.2011)
Published in American journal of human genetics (11.03.2011)
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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
Gauthier, Julie, Siddiqui, Tabrez J., Huashan, Peng, Yokomaku, Daisaku, Hamdan, Fadi F., Champagne, Nathalie, Lapointe, Mathieu, Spiegelman, Dan, Noreau, Anne, Lafrenière, Ronald G., Fathalli, Ferid, Joober, Ridha, Krebs, Marie-Odile, DeLisi, Lynn E., Mottron, Laurent, Fombonne, Éric, Michaud, Jacques L., Drapeau, Pierre, Carbonetto, Salvatore, Craig, Ann Marie, Rouleau, Guy A.
Published in Human genetics (01.10.2011)
Published in Human genetics (01.10.2011)
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A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura
Cader, M Zameel, Rouleau, Guy A, Lafrenière, Ronald G, Poulin, Jean-François, Andres-Enguix, Isabelle, Simoneau, Maryse, Gupta, Namrata, Boisvert, Karine, Lafrenière, François, McLaughlan, Shannon, Dubé, Marie-Pierre, Marcinkiewicz, Martin M, Ramagopalan, Sreeram, Ansorge, Olaf, Brais, Bernard, Sequeiros, Jorge, Pereira-Monteiro, Jose Maria, Griffiths, Lyn R, Tucker, Stephen J, Ebers, George
Published in Nature medicine (01.10.2010)
Published in Nature medicine (01.10.2010)
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De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment
Hamdan, Fadi F., Daoud, Hussein, Rochefort, Daniel, Piton, Amélie, Gauthier, Julie, Langlois, Mathieu, Foomani, Gila, Dobrzeniecka, Sylvia, Krebs, Marie-Odile, Joober, Ridha, Lafrenière, Ronald G., Lacaille, Jean-Claude, Mottron, Laurent, Drapeau, Pierre, Beauchamp, Miriam H., Phillips, Michael S., Fombonne, Eric, Rouleau, Guy A., Michaud, Jacques L.
Published in American journal of human genetics (12.11.2010)
Published in American journal of human genetics (12.11.2010)
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Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation
Hamdan, Fadi F, Gauthier, Julie, Spiegelman, Dan, Noreau, Anne, Yang, Yan, Pellerin, Stéphanie, Dobrzeniecka, Sylvia, Côté, Mélanie, Perreau-Linck, Elizabeth, Carmant, Lionel, D'Anjou, Guy, Fombonne, Éric, Addington, Anjene M, Rapoport, Judith L, Delisi, Lynn E, Krebs, Marie-Odile, Mouaffak, Faycal, Joober, Ridha, Mottron, Laurent, Drapeau, Pierre, Marineau, Claude, Lafrenière, Ronald G, Lacaille, Jean Claude, Rouleau, Guy A, Michaud, Jacques L
Published in The New England journal of medicine (05.02.2009)
Published in The New England journal of medicine (05.02.2009)
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A population genetic approach to mapping neurological disorder genes using deep resequencing
Myers, Rachel A, Casals, Ferran, Gauthier, Julie, Hamdan, Fadi F, Keebler, Jon, Boyko, Adam R, Bustamante, Carlos D, Piton, Amelie M, Spiegelman, Dan, Henrion, Edouard, Zilversmit, Martine, Hussin, Julie, Quinlan, Jacklyn, Yang, Yan, Lafrenière, Ronald G, Griffing, Alexander R, Stone, Eric A, Rouleau, Guy A, Awadalla, Philip
Published in PLoS genetics (01.02.2011)
Published in PLoS genetics (01.02.2011)
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Migraine: Role of the TRESK two-pore potassium channel
Lafrenière, Ronald G., Rouleau, Guy A.
Published in The international journal of biochemistry & cell biology (01.11.2011)
Published in The international journal of biochemistry & cell biology (01.11.2011)
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De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy
Hamdan, Fadi F., Piton, Amélie, Gauthier, Julie, Lortie, Anne, Dubeau, François, Dobrzeniecka, Sylvia, Spiegelman, Dan, Noreau, Anne, Pellerin, Stéphanie, Côté, Mélanie, Henrion, Edouard, Fombonne, Éric, Mottron, Laurent, Marineau, Claude, Drapeau, Pierre, Lafrenière, Ronald G., Lacaille, Jean Claude, Rouleau, Guy A., Michaud, Jacques L.
Published in Annals of neurology (01.06.2009)
Published in Annals of neurology (01.06.2009)
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Mutations in the calcium-related gene IL1RAPL1 are associated with autism
Piton, Amélie, Michaud, Jacques L., Peng, Huashan, Aradhya, Swaroop, Gauthier, Julie, Mottron, Laurent, Champagne, Nathalie, Lafrenière, Ronald G., Hamdan, Fadi F., Joober, Ridha, Fombonne, Eric, Marineau, Claude, Cossette, Patrick, Dubé, Marie-Pierre, Haghighi, Pejmun, Drapeau, Pierre, Barker, Philip A., Carbonetto, Salvatore, Rouleau, Guy A.
Published in Human molecular genetics (15.12.2008)
Published in Human molecular genetics (15.12.2008)
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Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder
Cruceanu, Cristiana, Ambalavanan, Amirthagowri, Spiegelman, Dan, Gauthier, Julie, Lafrenière, Ronald G, Dion, Patrick A, Alda, Martin, Turecki, Gustavo, Rouleau, Guy A
Published in Genome (01.10.2013)
Published in Genome (01.10.2013)
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Identification of Novel Genes Involved in Migraine
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Conference Proceeding
WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio)
Bercier, Valérie, Brustein, Edna, Liao, Meijiang, Dion, Patrick A, Lafrenière, Ronald G, Rouleau, Guy A, Drapeau, Pierre
Published in PLoS genetics (01.01.2013)
Published in PLoS genetics (01.01.2013)
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Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II
Shekarabi, Masoud, Girard, Nathalie, Rivière, Jean-Baptiste, Dion, Patrick, Houle, Martin, Toulouse, André, Lafrenière, Ronald G, Vercauteren, Freya, Hince, Pascale, Laganiere, Janet, Rochefort, Daniel, Faivre, Laurence, Samuels, Mark, Rouleau, Guy A
Published in The Journal of clinical investigation (01.07.2008)
Published in The Journal of clinical investigation (01.07.2008)
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Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
Cochius, Jeffrey I, Rouleau, Guy A, Lafreniére, Ronald G, Chrétien, Nathalie, Cossio, Otto Hernandez, Pouliot, Marc A, Andermann, Eva, Farrell, Kevin, Pranzatelli, Michael R, Patry, George, Söderfeldt, Birgitta, Hale, Bradford R, Rochefort, Daniel L, Rommens, Johanna M, Federico, Antonio, Andermann, Frederick, Nousiainen, Unto, Janszky, József, Kmiec, Tomasz, Kälviäinen, Reetta, Sørensen, Troels, Uldall, Peter
Published in Nature genetics (01.03.1997)
Published in Nature genetics (01.03.1997)
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MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels
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.
Published in Human molecular genetics (15.03.2009)
Published in Human molecular genetics (15.03.2009)
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Functional analysis of missense variants in the TRESK (KCNK18) K+ channel
Andres-Enguix, Isabelle, Shang, Lijun, Stansfeld, Phillip J., Morahan, Julia M., Sansom, Mark S. P., Lafrenière, Ronald G., Roy, Bishakha, Griffiths, Lyn R., Rouleau, Guy A., Ebers, George C., Cader, Zameel M., Tucker, Stephen J.
Published in Scientific reports (27.01.2012)
Published in Scientific reports (27.01.2012)
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De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia
Tarabeux, Julien, Champagne, Nathalie, Brustein, Edna, Hamdan, Fadi F, Gauthier, Julie, Lapointe, Mathieu, Maios, Claudia, Piton, Amélie, Spiegelman, Dan, Henrion, Édouard, Millet, Bruno, Rapoport, Judith L, DeLisi, Lynn E, Joober, Ridha, Fathalli, Ferid, Fombonne, Éric, Mottron, Laurent, Forget-Dubois, Nadine, Boivin, Michel, Michaud, Jacques L, Lafrenière, Ronald G, Drapeau, Pierre, Krebs, Marie-Odile, Rouleau, Guy A
Published in Biological psychiatry (1969) (01.10.2010)
Published in Biological psychiatry (1969) (01.10.2010)
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Genetic control of high density lipoprotein-cholesterol in AcB/BcA recombinant congenic strains of mice
Wiltshire, Sean A, Diez, Eduardo, Miao, Qianqian, Dubé, Marie-Pierre, Gagné, Mireille, Paquette, Olivier, Lafrenière, Ronald G, Ndao, Momar, Castellani, Lawrence W, Skamene, Emil, Vidal, Silvia M, Fortin, Anny
Published in Physiological genomics (01.09.2012)
Published in Physiological genomics (01.09.2012)
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A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family
Rivière, Jean-Baptiste, Verlaan, Dominique J., Shekarabi, Masoud, Lafrenière, Ronald G., Bénard, Mélanie, Der Kaloustian, Vazken M., Shbaklo, Zuhayr, Rouleau, Guy A.
Published in Annals of neurology (01.10.2004)
Published in Annals of neurology (01.10.2004)
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