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Exome sequencing of sporadic childhood‐onset schizophrenia suggests the contribution of X‐linked genes in males
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.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.09.2019)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.09.2019)
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Journal Article
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort
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
Published in Clinical genetics (01.09.2019)
Published in Clinical genetics (01.09.2019)
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Journal Article
Whole exome sequencing identifies novel predisposing genes in neural tube defects
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
Published in Molecular genetics & genomic medicine (01.01.2019)
Published in Molecular genetics & genomic medicine (01.01.2019)
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Journal Article
Triple A syndrome presenting as complicated hereditary spastic paraplegia
Leveille, Etienne, Gonorazky, Hernan D., Rioux, Marie‐France, Hazrati, Lili‐Naz, Ruskey, Jennifer A., Carnevale, Amanda, Spiegelman, Dan, Dionne‐Laporte, Alexandre, Rouleau, Guy A., Yoon, Grace, Gan‐Or, Ziv
Published in Molecular genetics & genomic medicine (01.11.2018)
Published in Molecular genetics & genomic medicine (01.11.2018)
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Journal Article
Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing
Walcott, Brian P, Winkler, Ethan A, Zhou, Sirui, Birk, Harjus, Guo, Diana, Koch, Matthew J, Stapleton, Christopher J, Spiegelman, Dan, Dionne-Laporte, Alexandre, Dion, Patrick A, Kahle, Kristopher T, Rouleau, Guy A, Lawton, Michael T
Published in Human genome variation (08.03.2018)
Published in Human genome variation (08.03.2018)
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Journal Article
De Novo Mutations in Moderate or Severe Intellectual Disability
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.
Published in PLoS genetics (01.10.2014)
Published in PLoS genetics (01.10.2014)
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Journal Article
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy
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
Published in EMBO reports (01.07.2014)
Published in EMBO reports (01.07.2014)
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Journal Article
SMPD1 mutations, activity, and α‐synuclein accumulation in Parkinson's disease
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
Published in Movement disorders (01.04.2019)
Published in Movement disorders (01.04.2019)
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Journal Article
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia
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
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Journal Article
Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
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
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
Rare deleterious variants in GRHL3 are associated with human spina bifida
Lemay, Philippe, Marco, Patrizia, Emond, Alexandre, Spiegelman, Dan, Dionne‐Laporte, Alexandre, Laurent, Sandra, Merello, Elisa, Accogli, Andrea, Rouleau, Guy A, Capra, Valeria, Kibar, Zoha
Published in Human mutation (01.06.2017)
Published in Human mutation (01.06.2017)
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Journal Article
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
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
Published in Brain (London, England : 1878) (01.08.2015)
Published in Brain (London, England : 1878) (01.08.2015)
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Journal Article
Draft genome sequence of the rubber tree Hevea brasiliensis
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
Published in BMC genomics (02.02.2013)
Published in BMC genomics (02.02.2013)
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Journal Article
Global characterization of copy number variants in epilepsy patients from whole genome sequencing
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
Published in PLoS genetics (12.04.2018)
Published in PLoS genetics (12.04.2018)
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Journal Article
De novo variants in sporadic cases of childhood onset schizophrenia
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
Published in European journal of human genetics : EJHG (01.06.2016)
Published in European journal of human genetics : EJHG (01.06.2016)
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Journal Article
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
Srour, Myriam, Hamdan, Fadi F., McKnight, Dianalee, Davis, Erica, Mandel, Hanna, Schwartzentruber, Jeremy, Martin, Brissa, Patry, Lysanne, Nassif, Christina, Dionne-Laporte, Alexandre, Ospina, Luis H., Lemyre, Emmanuelle, Massicotte, Christine, Laframboise, Rachel, Maranda, Bruno, Labuda, Damian, Décarie, Jean-Claude, Rypens, Françoise, Goldsher, Dorith, Fallet-Bianco, Catherine, Soucy, Jean-François, Laberge, Anne-Marie, Maftei, Catalina, Boycott, Kym, Brais, Bernard, Boucher, Renée-Myriam, Rouleau, Guy A., Katsanis, Nicholas, Majewski, Jacek, Elpeleg, Orly, Kukolich, Mary K., Shalev, Stavit, Michaud, Jacques L.
Published in American journal of human genetics (05.11.2015)
Published in American journal of human genetics (05.11.2015)
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Journal Article
Loss-of-function de novo mutations play an important role in severe human neural tube defects
Lemay, Philippe, Guyot, Marie-Claude, Tremblay, Élizabeth, Dionne-Laporte, Alexandre, Spiegelman, Dan, Henrion, Édouard, Diallo, Ousmane, De Marco, Patrizia, Merello, Elisa, Massicotte, Christine, Désilets, Valérie, Michaud, Jacques L, Rouleau, Guy A, Capra, Valeria, Kibar, Zoha
Published in Journal of medical genetics (01.07.2015)
Published in Journal of medical genetics (01.07.2015)
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Journal Article
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis
Leblond, Claire S., Gan-Or, Ziv, Spiegelman, Dan, Laurent, Sandra B., Szuto, Anna, Hodgkinson, Alan, Dionne-Laporte, Alexandre, Provencher, Pierre, de Carvalho, Mamede, Orrù, Sandro, Brunet, Denis, Bouchard, Jean-Pierre, Awadalla, Philip, Dupré, Nicolas, Dion, Patrick A., Rouleau, Guy A.
Published in Neurobiology of aging (01.01.2016)
Published in Neurobiology of aging (01.01.2016)
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Journal Article
Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression
Sarayloo, Faezeh, Dionne-Laporte, Alexandre, Catoire, Helene, Rochefort, Daniel, Houle, Gabrielle, Ross, Jay P., Akçimen, Fulya, Barros Oliveira, Rachel De, Turecki, Gustavo, Dion, Patrick A., Rouleau, Guy A.
Published in PloS one (14.11.2019)
Published in PloS one (14.11.2019)
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Journal Article
SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia
Leveille, Etienne, Estiar, Mehrdad A., Krohn, Lynne, Spiegelman, Dan, Dionne-Laporte, Alexandre, Dupré, Nicolas, Trempe, Jean François, Rouleau, Guy A., Gan-Or, Ziv
Published in Journal of human genetics (01.11.2019)
Published in Journal of human genetics (01.11.2019)
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Journal Article