Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability von 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.

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

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De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment von 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.

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Mutations in the calcium-related gene IL1RAPL1 are associated with autism von 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.

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Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors von Cruceanu, C, Schmouth, J-F, Torres-Platas, S G, Lopez, J P, Ambalavanan, A, Darcq, E, Gross, F, Breton, B, Spiegelman, D, Rochefort, D, Hince, P, Petite, J M, Gauthier, J, Lafrenière, R G, Dion, P A, Greenwood, C M, Kieffer, B L, Alda, M, Turecki, G, Rouleau, G A

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Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia von Tarabeux, J, Kebir, O, Gauthier, J, Hamdan, F F, Xiong, L, Piton, A, Spiegelman, D, Henrion, É, Millet, B, Fathalli, F, Joober, R, Rapoport, J L, DeLisi, L E, Fombonne, É, Mottron, L, Forget-Dubois, N, Boivin, M, Michaud, J L, Drapeau, P, Lafrenière, R G, Rouleau, G A, Krebs, M-O

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

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A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura von 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

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Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia von Piton, A, Gauthier, J, Hamdan, F F, Lafrenière, R G, Yang, Y, Henrion, E, Laurent, S, Noreau, A, Thibodeau, P, Karemera, L, Spiegelman, D, Kuku, F, Duguay, J, Destroismaisons, L, Jolivet, P, Côté, M, Lachapelle, K, Diallo, O, Raymond, A, Marineau, C, Champagne, N, Xiong, L, Gaspar, C, Rivière, J-B, Tarabeux, J, Cossette, P, Krebs, M-O, Rapoport, J L, Addington, A, DeLisi, L E, Mottron, L, Joober, R, Fombonne, E, Drapeau, P, Rouleau, G A

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Novel de novo SHANK3 mutation in autistic patients von 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.

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia von 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.

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De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia von 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

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A population genetic approach to mapping neurological disorder genes using deep resequencing von 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

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A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome von Brown, Carolyn J, Ballabio, Andrea, Rupert, James L, Lafreniere, Ronald G, Grompe, Markus, Tonlorenzi, Rossana, Willard, Huntington F

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Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation von 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

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The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus von Brown, Carolyn J., Hendrich, Brian D., Rupert, Jim L., Lafrenière, Ronald G., Xing, Yigong, Lawrence, Jeanne, Willard, Huntington F.

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Migraine: Role of the TRESK two-pore potassium channel von Lafrenière, Ronald G., Rouleau, Guy A.

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De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy von 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.

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WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio) von Bercier, Valérie, Brustein, Edna, Liao, Meijiang, Dion, Patrick A, Lafrenière, Ronald G, Rouleau, Guy A, Drapeau, Pierre

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Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts von Awadalla, Philip, Gauthier, Julie, Myers, Rachel A., Casals, Ferran, Hamdan, Fadi F., Griffing, Alexander R., Côté, Mélanie, Henrion, Edouard, Spiegelman, Dan, Tarabeux, Julien, Piton, Amélie, Yang, Yan, Boyko, Adam, Bustamante, Carlos, Xiong, Lan, Rapoport, Judith L., Addington, Anjené M., DeLisi, J. Lynn E., Krebs, Marie-Odile, Joober, Ridha, Millet, Bruno, Fombonne, Éric, Mottron, Laurent, Zilversmit, Martine, Keebler, Jon, Daoud, Hussein, Marineau, Claude, Roy-Gagnon, Marie-Hélène, Dubé, Marie-Pierre, Eyre-Walker, Adam, Drapeau, Pierre, Stone, Eric A., Lafrenière, Ronald G., Rouleau, Guy A.

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