Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum

por Noreau, Anne, Beauchemin, Philippe, Dionne-Laporte, Alexandre, Dion, Patrick A, Rouleau, Guy A, Dupré, Nicolas
Publicado 2014

Screening of novel restless legs syndrome–associated genes in French-Canadian families

por Akçimen, Fulya, Spiegelman, Dan, Dionne-Laporte, Alexandre, Gan-Or, Ziv, Dion, Patrick A., Rouleau, Guy A.
Publicado 2018

Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia

por Sardaar, Sameer, Qi, Bill, Dionne-Laporte, Alexandre, Rouleau, Guy. A., Rabbany, Reihaneh, Trakadis, Yannis J.
Publicado 2020

Syngap1 Disruption Induced by Recombination between Inverted loxP Sites Is Associated with Hippocampal Interneuron Dysfunction

por Khlaifia, Abdessattar, Jadhav, Vidya, Danik, Marc, Badra, Théo, Berryer, Martin H., Dionne-Laporte, Alexandre, Chattopadhyaya, Bidisha, Di Cristo, Graziella, Lacaille, Jean-Claude, Michaud, Jacques L.
Publicado 2023

Kaufman Oculo-cerebro-facial Syndrome in a child with small and absent terminal phalanges and absent nails

por Kariminejad, Ariana, Ajeawung, Norbert Fonya, Bozorgmehr, Bita, Dionne-Laporte, Alexandre, Molidperee, Sirinart, Najafi, Kimia, Gibbs, Richard A, Lee, Brendan H, Hennekam, Raoul C, Campeau, Philippe M
Publicado 2016

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia

por Chaumette, Boris, Ferrafiat, Vladimir, Ambalavanan, Amirthagowri, Goldenberg, Alice, Dionne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A., Gerardin, Priscille, Laurent, Claudine, Cohen, David, Rapoport, Judith, Rouleau, Guy A.
Publicado 2018

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

por Lyahyai, Jaber, Oulad 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
Publicado 2018

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

por Lyahyai, Jaber, Bencheikh, Bouchra Ouled Amar, Elalaoui, Siham C., Mansouri, Maria, Boualla, Lamia, DIonne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A., Cossette, Patrick, Rouleau, Guy A., Sefiani, Abdelaziz
Publicado 2018

Triple A syndrome presenting as complicated hereditary spastic paraplegia

por 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
Publicado 2018

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression

por 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.
Publicado 2019

Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population

por Zhou, Sirui, Xiong, Lan, Xie, Pingxing, Ambalavanan, Amirthagowri, Bourassa, Cynthia V., Dionne-Laporte, Alexandre, Spiegelman, Dan, Turcotte Gauthier, Maude, Henrion, Edouard, Diallo, Ousmane, Dion, Patrick A., Rouleau, Guy A.
Publicado 2015

Whole exome sequencing identifies novel predisposing genes in neural tube defects

por 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
Publicado 2018

Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing

por 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
Publicado 2018

De novo variants in sporadic cases of childhood onset schizophrenia

por 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
Publicado 2016

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

por Zhou, Sirui, Gan-Or, Ziv, Ambalavanan, Amirthagowri, Lai, Dongbing, Xie, Pingxing, Bourassa, Cynthia V., Strong, Stephanie, Ross, Jay P., Dionne-Laporte, Alexandre, Spiegelman, Dan, Dupré, Nicolas, Foroud, Tatiana M, Xiong, Lan, Dion, Patrick A., Rouleau, Guy A.
Publicado 2018

Epistasis analysis links immune cascades and cerebral amyloidosis

por Benedet, Andréa L., Labbe, Aurélie, Lemay, Philippe, Zimmer, Eduardo R., Pascoal, Tharick A., Leuzy, Antoine, Mathotaarachchi, Sulantha, Mohades, Sara, Shin, Monica, Dionne-Laporte, Alexandre, Beaudry, Thomas, Picard, Cynthia, Gauthier, Serge, Poirier, Judes, Rouleau, Guy, Rosa-Neto, Pedro
Publicado 2015

De Novo Mutations in Moderate or Severe Intellectual Disability

por 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.
Publicado 2014

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

por 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
Publicado 2018

Draft genome sequence of the rubber tree Hevea brasiliensis

por 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
Publicado 2013