Unraveling the role of non-coding rare variants in epilepsy

por Girard, Alexandre, Moreau, Claudia, Michaud, Jacques L., Minassian, Berge, Cossette, Patrick, Girard, Simon L.
Publicado 2023

Homozygous deletion of Tenascin-R in a patient with intellectual disability

por Dufresne, David, Hamdan, Fadi F, Rosenfeld, Jill A, Torchia, Beth, Rosenblatt, Bernard, Michaud, Jacques L, Srour, Myriam
Publicado 2012

SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay

por D’Amours, Guylaine, Langlois, Mathieu, Mathonnet, Géraldine, Fetni, Raouf, Nizard, Sonia, Srour, Myriam, Tihy, Frédérique, S Phillips, Michael, L Michaud, Jacques, Lemyre, Emmanuelle
Publicado 2014

Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach

por Knoth, Inga Sophia, Lajnef, Tarek, Rigoulot, Simon, Lacourse, Karine, Vannasing, Phetsamone, Michaud, Jacques L., Jacquemont, Sébastien, Major, Philippe, Jerbi, Karim, Lippé, Sarah
Publicado 2018

Polygenic risk scores of several subtypes of epilepsies in a founder population

por Moreau, Claudia, Rébillard, Rose-Marie, Wolking, Stefan, Michaud, Jacques, Tremblay, Frédérique, Girard, Alexandre, Bouchard, Joanie, Minassian, Berge, Laprise, Catherine, Cossette, Patrick, Girard, Simon L.
Publicado 2020

Ectopic expression of Irx3 and Irx5 in the paraventricular nucleus of the hypothalamus contributes to defects in Sim1 haploinsufficiency

por Son, Joe Eun, Dou, Zhengchao, Wanggou, Siyi, Chan, Jade, Mo, Rong, Li, Xuejun, Huang, Xi, Kim, Kyoung-Han, Michaud, Jacques L., Hui, Chi-chung
Publicado 2021

Assessment of burden and segregation profiles of CNVs in patients with epilepsy

por Moreau, Claudia, Tremblay, Frédérique, Wolking, Stefan, Girard, Alexandre, Laprise, Catherine, Hamdan, Fadi F., Michaud, Jacques L., Minassian, Berge A., Cossette, Patrick, Girard, Simon L.
Publicado 2022

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

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

FHF1 (FGF12) epileptic encephalopathy

por Al-Mehmadi, Sameer, Splitt, Miranda, Ramesh, Venkateswaran, DeBrosse, Suzanne, Dessoffy, Kimberly, Xia, Fan, Yang, Yaping, Rosenfeld, Jill A., Cossette, Patrick, Michaud, Jacques L., Hamdan, Fadi F., Campeau, Philippe M., Minassian, Berge A.
Publicado 2016

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

por Gauthier, Julie, Ouled Amar Bencheikh, Bouchra, Hamdan, Fadi F, Harrison, Steven M, Baker, Linda A, Couture, Françoise, Thiffault, Isabelle, Ouazzani, Reda, Samuels, Mark E, Mitchell, Grant A, Rouleau, Guy A, Michaud, Jacques L, Soucy, Jean- François
Publicado 2015

Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function

por Berryer, Martin H., Chattopadhyaya, Bidisha, Xing, Paul, Riebe, Ilse, Bosoi, Ciprian, Sanon, Nathalie, Antoine-Bertrand, Judith, Lévesque, Maxime, Avoli, Massimo, Hamdan, Fadi F., Carmant, Lionel, Lamarche-Vane, Nathalie, Lacaille, Jean-Claude, Michaud, Jacques L., Di Cristo, Graziella
Publicado 2016

Mice Doubly-Deficient in Lysosomal Hexosaminidase A and Neuraminidase 4 Show Epileptic Crises and Rapid Neuronal Loss

por Seyrantepe, Volkan, Lema, Pablo, Caqueret, Aurore, Dridi, Larbi, Bel Hadj, Samar, Carpentier, Stephane, Boucher, Francine, Levade, Thierry, Carmant, Lionel, Gravel, Roy A., Hamel, Edith, Vachon, Pascal, Di Cristo, Graziella, Michaud, Jacques L., Morales, Carlos R., Pshezhetsky, Alexey V.
Publicado 2010

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation

por Tucker, Tracy, Montpetit, Alexandre, Chai, David, Chan, Susanna, Chénier, Sébastien, Coe, Bradley P, Delaney, Allen, Eydoux, Patrice, Lam, Wan L, Langlois, Sylvie, Lemyre, Emmanuelle, Marra, Marco, Qian, Hong, Rouleau, Guy A, Vincent, David, Michaud, Jacques L, Friedman, Jan M
Publicado 2011

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

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

por Samuels, Mark E, Majewski, Jacek, Alirezaie, Najmeh, Fernandez, Isabel, Casals, Ferran, Patey, Natalie, Decaluwe, Hélène, Gosselin, Isabelle, Haddad, Elie, Hodgkinson, Alan, Idaghdour, Youssef, Marchand, Valerie, Michaud, Jacques L, Rodrigue, Marc-André, Desjardins, Sylvie, Dubois, Stéphane, Le Deist, Francoise, Awadalla, Philip, Raymond, Vincent, Maranda, Bruno
Publicado 2013

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

por Kreienkamp, Hans-Jürgen, Wagner, Matias, Weigand, Heike, McConkie-Rossell, Allyn, McDonald, Marie, Keren, Boris, Mignot, Cyril, Gauthier, Julie, Soucy, Jean-François, Michaud, Jacques L., Dumas, Meghan, Smith, Rosemarie, Löbel, Ulrike, Hempel, Maja, Kubisch, Christian, Denecke, Jonas, Campeau, Philippe M., Bain, Jennifer M., Lessel, Davor
Publicado 2021

Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans

por Casals, Ferran, Hodgkinson, Alan, Hussin, Julie, Idaghdour, Youssef, Bruat, Vanessa, de Maillard, Thibault, Grenier, Jean-Cristophe, Gbeha, Elias, Hamdan, Fadi F., Girard, Simon, Spinella, Jean-François, Larivière, Mathieu, Saillour, Virginie, Healy, Jasmine, Fernández, Isabel, Sinnett, Daniel, Michaud, Jacques L., Rouleau, Guy A., Haddad, Elie, Le Deist, Françoise, Awadalla, Philip
Publicado 2013

3D Cohort Study: The Integrated Research Network in Perinatology of Quebec and Eastern Ontario

por Fraser, William D., Shapiro, Gabriel D., Audibert, François, Dubois, Lise, Pasquier, Jean‐Charles, Julien, Pierre, Bérard, Anick, Muckle, Gina, Trasler, Jacquetta, Tremblay, Richard E., Abenhaim, Haim, Welt, Michel, Bédard, Marie‐Josée, Bissonnette, François, Bujold, Emmanuel, Gagnon, Robert, Michaud, Jacques L., Girard, Isabelle, Moutquin, Jean‐Marie, Marc, Isabelle, Monnier, Patricia, Séguin, Jean R., Luo, Zhong‐Cheng
Publicado 2016