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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Unraveling the role of non-coding rare variants in epilepsy von Girard, Alexandre, Moreau, Claudia, Michaud, Jacques L, Minassian, Berge, Cossette, Patrick, Girard, Simon L

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The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists von Boycott, Kym, Hartley, Taila, Adam, Shelin, Bernier, Francois, Chong, Karen, Fernandez, Bridget A, Friedman, Jan M, Geraghty, Michael T, Hume, Stacey, Knoppers, Bartha M, Laberge, Anne-Marie, Majewski, Jacek, Mendoza-Londono, Roberto, Meyn, M Stephen, Michaud, Jacques L, Nelson, Tanya N, Richer, Julie, Sadikovic, Bekim, Skidmore, David L, Stockley, Tracy, Taylor, Sherry, van Karnebeek, Clara, Zawati, Ma'n H, Lauzon, Julie, Armour, Christine M

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Recessive mutations in >VPS13D cause childhood onset movement disorders von Gauthier, Julie, Meijer, Inge A., Lessel, Davor, Mencacci, Niccolò E., Krainc, Dimitri, Hempel, Maja, Tsiakas, Konstantinos, Prokisch, Holger, Rossignol, Elsa, Helm, Margaret H., Rodan, Lance H., Karamchandani, Jason, Carecchio, Miryam, Lubbe, Steven J., Telegrafi, Aida, Henderson, Lindsay B., Lorenzo, Kerry, Wallace, Stephanie E., Glass, Ian A., Hamdan, Fadi F., Michaud, Jacques L., Rouleau, Guy A., Campeau, Philippe M.

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SHANK1 Deletions in Males with Autism Spectrum Disorder von Sato, Daisuke, Lionel, Anath C., Leblond, Claire S., Prasad, Aparna, Pinto, Dalila, Walker, Susan, O'Connor, Irene, Russell, Carolyn, Drmic, Irene E., Hamdan, Fadi F., Michaud, Jacques L., Endris, Volker, Roeth, Ralph, Delorme, Richard, Huguet, Guillaume, Leboyer, Marion, Rastam, Maria, Gillberg, Christopher, Lathrop, Mark, Stavropoulos, Dimitri J., Anagnostou, Evdokia, Weksberg, Rosanna, Fombonne, Eric, Zwaigenbaum, Lonnie, Fernandez, Bridget A., Roberts, Wendy, Rappold, Gudrun A., Marshall, Christian R., Bourgeron, Thomas, Szatmari, Peter, Scherer, Stephen W.

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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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Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population von Srour, Myriam, Schwartzentruber, Jeremy, Hamdan, Fadi F., Ospina, Luis H., Patry, Lysanne, Labuda, Damian, Massicotte, Christine, Dobrzeniecka, Sylvia, Capo-Chichi, José-Mario, Papillon-Cavanagh, Simon, Samuels, Mark E., Boycott, Kym M., Shevell, Michael I., Laframboise, Rachel, Désilets, Valérie, Maranda, Bruno, Rouleau, Guy A., Majewski, Jacek, Michaud, Jacques L.

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

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Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis von Boissel, Sarah, Fallet-Bianco, Catherine, Chitayat, David, Kremer, Valérie, Nassif, Christina, Rypens, Françoise, Delrue, Marie-Ange, Dal Soglio, Dorothée, Oligny, Luc L., Patey, Natalie, Flori, Elisabeth, Cloutier, Mireille, Dyment, David, Campeau, Philippe, Karalis, Aspasia, Nizard, Sonia, Fraser, William D., Audibert, François, Lemyre, Emmanuelle, Rouleau, Guy A., Hamdan, Fadi F., Kibar, Zoha, Michaud, Jacques L.

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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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Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia von Srour, Myriam, Chitayat, David, Caron, Véronique, Chassaing, Nicolas, Bitoun, Pierre, Patry, Lysanne, Cordier, Marie-Pierre, Capo-Chichi, José-Mario, Francannet, Christine, Calvas, Patrick, Ragge, Nicola, Dobrzeniecka, Sylvia, Hamdan, Fadi F., Rouleau, Guy A., Tremblay, André, Michaud, Jacques L.

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De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism von Hamdan, Fadi F, Daoud, Hussein, Piton, Amélie, Gauthier, Julie, Dobrzeniecka, Sylvia, Krebs, Marie-Odile, Joober, Ridha, Lacaille, Jean-Claude, Nadeau, Amélie, Milunsky, Jeff M, Wang, Zhenyuan, Carmant, Lionel, Mottron, Laurent, Beauchamp, Miriam H, Rouleau, Guy A, Michaud, Jacques L

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Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus von Crow, Yanick J, Hayward, Bruce E, Parmar, Rekha, Robins, Peter, Leitch, Andrea, Ali, Manir, Black, Deborah N, van Bokhoven, Hans, Brunner, Han G, Hamel, Ben C, Corry, Peter C, Cowan, Frances M, Frints, Suzanne G, Klepper, Joerg, Livingston, John H, Lynch, Sally Ann, Massey, Roger F, Meritet, Jean François, Michaud, Jacques L, Ponsot, Gerard, Voit, Thomas, Lebon, Pierre, Bonthron, David T, Jackson, Andrew P, Barnes, Deborah E, Lindahl, Tomas

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Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome von Guernsey, Duane L, Matsuoka, Makoto, Jiang, Haiyan, Evans, Susan, Macgillivray, Christine, Nightingale, Mathew, Perry, Scott, Ferguson, Meghan, LeBlanc, Marissa, Paquette, Jean, Patry, Lysanne, Rideout, Andrea L, Thomas, Aidan, Orr, Andrew, McMaster, Chris R, Michaud, Jacques L, Deal, Cheri, Langlois, Sylvie, Superneau, Duane W, Parkash, Sandhya, Ludman, Mark, Skidmore, David L, Samuels, Mark E

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Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4 von Guernsey, Duane L., Jiang, Haiyan, Hussin, Julie, Arnold, Marc, Bouyakdan, Khalil, Perry, Scott, Babineau-Sturk, Tina, Beis, Jill, Dumas, Nadine, Evans, Susan C., Ferguson, Meghan, Matsuoka, Makoto, Macgillivray, Christine, Nightingale, Mathew, Patry, Lysanne, Rideout, Andrea L., Thomas, Aidan, Orr, Andrew, Hoffmann, Ingrid, Michaud, Jacques L., Awadalla, Philip, Meek, David C., Ludman, Mark, Samuels, Mark E.

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Loss-of-function de novo mutations play an important role in severe human neural tube defects von 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

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Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus von DOMBRET, Carlos, NGUYEN, Tuan, SCHAKMAN, Olivier, MICHAUD, Jacques L, HARDIN-POUZET, Hélène, BERTRAND, Mathieu J. M, DE BACKER, Olivier

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Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans von Casals, Ferran, Hodgkinson, Alan, Hussin, Julie, Idaghdour, Youssef, Bruat, Vanessa, de Maillard, Thibault, Grenier, Jean-Christophe, 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

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Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness von Perrault, Isabelle, Hamdan, Fadi F., Rio, Marlène, Capo-Chichi, José-Mario, Boddaert, Nathalie, Décarie, Jean-Claude, Maranda, Bruno, Nabbout, Rima, Sylvain, Michel, Lortie, Anne, Roux, Philippe P., Rossignol, Elsa, Gérard, Xavier, Barcia, Giulia, Berquin, Patrick, Munnich, Arnold, Rouleau, Guy A., Kaplan, Josseline, Rozet, Jean-Michel, Michaud, Jacques L.

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