Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases von Uguen, Kevin, Michaud, Jacques L, Génin, Emmanuelle

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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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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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A framework for an evidence-based gene list relevant to autism spectrum disorder von Schaaf, Christian P., Betancur, Catalina, Yuen, Ryan K. C., Parr, Jeremy R., Skuse, David H., Gallagher, Louise, Bernier, Raphael A., Buchanan, Janet A., Buxbaum, Joseph D., Chen, Chun-An, Dies, Kira A., Elsabbagh, Mayada, Firth, Helen V., Frazier, Thomas, Hoang, Ny, Howe, Jennifer, Marshall, Christian R., Michaud, Jacques L., Rennie, Olivia, Szatmari, Peter, Chung, Wendy K., Bolton, Patrick F., Cook, Edwin H., Scherer, Stephen W., Vorstman, Jacob A. S.

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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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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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Overstressed response to EIF2S3 variants in MEHMO syndrome von Michaud, Jacques L.

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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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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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The genetic landscape of infantile spasms von Michaud, Jacques L, Lachance, Mathieu, Hamdan, Fadi F, Carmant, Lionel, Lortie, Anne, Diadori, Paola, Major, Philippe, Meijer, Inge A, Lemyre, Emmanuelle, Cossette, Patrick, Mefford, Heather C, Rouleau, Guy A, Rossignol, Elsa

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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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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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Sensory processing dysregulations as reliable translational biomarkers in SYNGAP1 haploinsufficiency von Carreño-Muñoz, Maria Isabel, Chattopadhyaya, Bidisha, Agbogba, Kristian, Côté, Valérie, Wang, Siyan, Lévesque, Maxime, Avoli, Massimo, Michaud, Jacques L, Lippé, Sarah, Di Cristo, Graziella

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

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