Rare deleterious variants in GRHL3 are associated with human spina bifida von Lemay, Philippe, Marco, Patrizia, Emond, Alexandre, Spiegelman, Dan, Dionne‐Laporte, Alexandre, Laurent, Sandra, Merello, Elisa, Accogli, Andrea, Rouleau, Guy A, Capra, Valeria, Kibar, Zoha

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Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes von Liao, Calwing, Laporte, Alexandre D., Spiegelman, Dan, Akçimen, Fulya, Joober, Ridha, Dion, Patrick A., Rouleau, Guy A.

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Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy von Kahle, Kristopher T, Merner, Nancy D, Friedel, Perrine, Silayeva, Liliya, Liang, Bo, Khanna, Arjun, Shang, Yuze, Lachance-Touchette, Pamela, Bourassa, Cynthia, Levert, Annie, Dion, Patrick A, Walcott, Brian, Spiegelman, Dan, Dionne-Laporte, Alexandre, Hodgkinson, Alan, Awadalla, Philip, Nikbakht, Hamid, Majewski, Jacek, Cossette, Patrick, Deeb, Tarek Z, Moss, Stephen J, Medina, Igor, Rouleau, Guy A

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SMPD1 mutations, activity, and α‐synuclein accumulation in Parkinson's disease von Alcalay, Roy N., Mallett, Victoria, Vanderperre, Benoît, Tavassoly, Omid, Dauvilliers, Yves, Wu, Richard Y.J., Ruskey, Jennifer A., Leblond, Claire S., Ambalavanan, Amirthagowri, Laurent, Sandra B., Spiegelman, Dan, Dionne‐Laporte, Alexandre, Liong, Christopher, Levy, Oren A., Fahn, Stanley, Waters, Cheryl, Kuo, Sheng‐Han, Chung, Wendy K., Ford, Blair, Marder, Karen S., Kang, Un Jung, Hassin‐Baer, Sharon, Greenbaum, Lior, Trempe, Jean‐Francois, Wolf, Pavlina, Oliva, Petra, Zhang, Xiaokui Kate, Clark, Lorraine N., Langlois, Melanie, Dion, Patrick A., Fon, Edward A., Dupre, Nicolas, Rouleau, Guy A., Gan‐Or, Ziv

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Exome sequencing of sporadic childhood‐onset schizophrenia suggests the contribution of X‐linked genes in males von 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.

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Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort von Callaghan, Daniel Benjamin, Rogic, Sanja, Tan, Powell Patrick Cheng, Calli, Kristina, Qiao, Ying, Baldwin, Robert, Jacobson, Matthew, Belmadani, Manuel, Holmes, Nathan, Yu, Chang, Li, Yanchen, Li, Yingrui, Kurtzke, Franz‐Edward, Kuzeljevic, Boris, Yu, An Yi, Hudson, Melissa, Mcaughton, Amy J.M., Xu, Yuchen, Dionne‐Laporte, Alexandre, Girard, Simon, Liang, Ping, Separovic, Evica Rajcan, Liu, Xudong, Rouleau, Guy, Pavlidis, Paul, Lewis, M.E. Suzanne

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Draft genome sequence of the rubber tree Hevea brasiliensis von Rahman, Ahmad Yamin Abdul, Usharraj, Abhilash O, Misra, Biswapriya B, Thottathil, Gincy P, Jayasekaran, Kandakumar, Feng, Yun, Hou, Shaobin, Ong, Su Yean, Ng, Fui Ling, Lee, Ling Sze, Tan, Hock Siew, Sakaff, Muhd Khairul Luqman Muhd, Teh, Beng Soon, Khoo, Bee Feong, Badai, Siti Suriawati, Aziz, Nurohaida Ab, Yuryev, Anton, Knudsen, Bjarne, Dionne-Laporte, Alexandre, Mchunu, Nokuthula P, Yu, Qingyi, Langston, Brennick J, Freitas, Tracey Allen K, Young, Aaron G, Chen, Rui, Wang, Lei, Najimudin, Nazalan, Saito, Jennifer A, Alam, Maqsudul

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Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor von Liao, Calwing, Sarayloo, Faezeh, Rochefort, Daniel, Houle, Gabrielle, Akçimen, Fulya, He, Qin, Laporte, Alexandre D., Spiegelman, Dan, Poewe, Werner, Berg, Daniela, Müller, Stefanie, Hopfner, Franziska, Deuschl, Günther, Kuhlenbäeumer, Gregor, Rajput, Alex, Dion, Patrick A., Rouleau, Guy A.

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De novo mutations in moderate or severe intellectual disability von Hamdan, Fadi F, Srour, Myriam, Capo-Chichi, Jose-Mario, Daoud, Hussein, Nassif, Christina, Patry, Lysanne, Massicotte, Christine, Ambalavanan, Amirthagowri, Spiegelman, Dan, Diallo, Ousmane, Henrion, Edouard, Dionne-Laporte, Alexandre, Fougerat, Anne, Pshezhetsky, Alexey V, Venkateswaran, Sunita, Rouleau, Guy A, Michaud, Jacques L

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Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor von Liao, Calwing, Sarayloo, Faezeh, Vuokila, Veikko, Rochefort, Daniel, Akçimen, Fulya, Diamond, Simone, Houle, Gabrielle, Laporte, Alexandre D., Spiegelman, Dan, He, Qin, Catoire, Hélène, Dion, Patrick A., Rouleau, Guy A.

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SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia von Leveille, Etienne, Estiar, Mehrdad A, Krohn, Lynne, Spiegelman, Dan, Dionne-Laporte, Alexandre, Dupré, Nicolas, Trempe, Jean François, Rouleau, Guy A, Gan-Or, Ziv

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Copy-number variants in the contactin-5 gene are a potential risk factor for autism spectrum disorder von Schmilovich, Zoe, Huguet, Guillaume, He, Qin, Musa-Johnson, Amélie, Douard, Elise, Loum, Mor Absa, Liao, Calwing, Ross, Jay P., Dionne-Laporte, Alexandre, Spiegelman, Dan, Jean-Louis, Martineau, Saci, Zohra, Hayward, Caroline, Banaschewski, Tobias, Bokde, Arun, Desrivieres, Sylvane, Lemaitre, Herve, Schumann, Gunter, Xiong, Lan, Dion, Patrick A., Jacquemont, Sébastien, Chaumette, Boris, Rouleau, Guy A.

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Investigating the association and causal relationship between restless legs syndrome and essential tremor von Liao, Calwing, Houle, Gabrielle, He, Qin, Laporte, Alexandre D., Girard, Simon L., Dion, Patrick A., Rouleau, Guy A.

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SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients von Gama, Maria Thereza Drumond, Houle, Gabrielle, Noreau, Anne, Dionne-Laporte, Alexandre, Dion, Patrick A., Rouleau, Guy A., Barsottini, Orlando G.P., Pedroso, José Luiz

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RIC3 variants are not associated with Parkinson’s disease in French-Canadians and French von Ross, Jay P, Dupré, Nicolas, Dauvilliers, Yves, Strong, Stephanie, Dionne-Laporte, Alexandre, Dion, Patrick A, Rouleau, Guy A, Gan-Or, Ziv

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Whole exome sequencing identifies novel predisposing genes in neural tube defects von Lemay, Philippe, De Marco, Patrizia, Traverso, Monica, Merello, Elisa, Dionne‐Laporte, Alexandre, Spiegelman, Dan, Henrion, Édouard, Diallo, Ousmane, Audibert, François, Michaud, Jacques L., Cama, Armando, Rouleau, Guy A., Kibar, Zoha, Capra, Valeria

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Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia von Gan-Or, Ziv, Bouslam, Naima, Birouk, Nazha, Lissouba, Alexandra, Chambers, Daniel B., Vérièpe, Julie, Androschuk, Alaura, Laurent, Sandra B., Rochefort, Daniel, Spiegelman, Dan, Dionne-Laporte, Alexandre, Szuto, Anna, Liao, Meijiang, Figlewicz, Denise A., Bouhouche, Ahmed, Benomar, Ali, Yahyaoui, Mohamed, Ouazzani, Reda, Yoon, Grace, Dupré, Nicolas, Suchowersky, Oksana, Bolduc, Francois V., Parker, J. Alex, Dion, Patrick A., Drapeau, Pierre, Rouleau, Guy A., Ouled Amar Bencheikh, Bouchra

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Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia von Boukhris, Amir, Schule, Rebecca, Loureiro, José L., Lourenço, Charles Marques, Mundwiller, Emeline, Gonzalez, Michael A., Charles, Perrine, Gauthier, Julie, Rekik, Imen, Acosta Lebrigio, Rafael F., Gaussen, Marion, Speziani, Fiorella, Ferbert, Andreas, Feki, Imed, Caballero-Oteyza, Andrés, Dionne-Laporte, Alexandre, Amri, Mohamed, Noreau, Anne, Forlani, Sylvie, Cruz, Vitor T., Mochel, Fanny, Coutinho, Paula, Dion, Patrick, Mhiri, Chokri, Schols, Ludger, Pouget, Jean, Darios, Frédéric, Rouleau, Guy A., Marques, Wilson, Brice, Alexis, Durr, Alexandra, Zuchner, Stephan, Stevanin, Giovanni

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Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report von Lyahyai, Jaber, Ouled Amar Bencheikh, Bouchra, Elalaoui, Siham C, Mansouri, Maria, Boualla, Lamia, DIonne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A, Cossette, Patrick, Rouleau, Guy A, Sefiani, Abdelaziz

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Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia von Coutelier, Marie, Goizet, Cyril, Durr, Alexandra, Habarou, Florence, Morais, Sara, Dionne-Laporte, Alexandre, Tao, Feifei, Konop, Juliette, Stoll, Marion, Charles, Perrine, Jacoupy, Maxime, Matusiak, Raphaël, Alonso, Isabel, Tallaksen, Chantal, Mairey, Mathilde, Kennerson, Marina, Gaussen, Marion, Schule, Rebecca, Janin, Maxime, Morice-Picard, Fanny, Durand, Christelle M, Depienne, Christel, Calvas, Patrick, Coutinho, Paula, Saudubray, Jean-Marie, Rouleau, Guy, Brice, Alexis, Nicholson, Garth, Darios, Frédéric, Loureiro, José L, Zuchner, Stephan, Ottolenghi, Chris, Mochel, Fanny, Stevanin, Giovanni

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