SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function von FASSIO, Anna, PATRY, Lysanne, CORRADI, Anna, BALDELLI, Pietro, LAPOINTE, Line, ST-ONGE, Judith, MELOCHE, Caroline, MOTTRON, Laurent, VALTORTA, Flavia, KHOA NGUYEN, Dang, ROULEAU, Guy A, BENFENATI, Fabio, CONGIA, Sonia, COSSETTE, Patrick, ONOFRI, Franco, PITON, Amelie, GAUTHIER, Julie, POZZI, Davide, MESSA, Mirko, DEFRANCHI, Enrico, FADDA, Manuela

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Early Nutritional Intervention to Promote Healthy Eating Habits in Pediatric Oncology: A Feasibility Study von Bélanger, Véronique, Delorme, Josianne, Napartuk, Mélanie, Bouchard, Isabelle, Meloche, Caroline, Curnier, Daniel, Sultan, Serge, Laverdière, Caroline, Sinnett, Daniel, Marcil, Valérie

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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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Abnormal HDL lipid and protein composition following pediatric cancer treatment: an associative study von Bélanger, Véronique, Morel, Sophia, Napartuk, Mélanie, Bouchard, Isabelle, Meloche, Caroline, Curnier, Daniel, Sultan, Serge, Laverdière, Caroline, Sinnett, Daniel, Marcil, Valérie

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Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001 von Tran, Thai Hoa, Langlois, Sylvie, Meloche, Caroline, Caron, Maxime, Saint-Onge, Pascal, Rouette, Alexandre, Bataille, Alain R., Jimenez-Cortes, Camille, Sontag, Thomas, Bittencourt, Henrique, Laverdière, Caroline, Lavallée, Vincent-Philippe, Leclerc, Jean-Marie, Cole, Peter D., Gennarini, Lisa M., Kahn, Justine M., Kelly, Kara M., Michon, Bruno, Santiago, Raoul, Stevenson, Kristen E., Welch, Jennifer J.G., Schroeder, Kaitlin M., Koch, Victoria, Cellot, Sonia, Silverman, Lewis B., Sinnett, Daniel

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Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord von Montpetit, Alexandre, Côté, Stéphanie, Brustein, Edna, Drouin, Christian A, Lapointe, Line, Boudreau, Michèle, Meloche, Caroline, Drouin, Régen, Hudson, Thomas J, Drapeau, Pierre, Cossette, Patrick

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Improvement of Diet after an Early Nutritional Intervention in Pediatric Oncology von Napartuk, Mélanie, Bélanger, Véronique, Bouchard, Isabelle, Meloche, Caroline, Curnier, Daniel, Sultan, Serge, Laverdière, Caroline, Sinnett, Daniel, Marcil, Valérie

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Needs, Barriers and Facilitators of Adolescents Participating in a Lifestyle Promotion Program in Oncology: Stakeholders, Adolescents and Parents’ Perspective von Kerba, Johanne, Demers, Catherine, Bélanger, Véronique, Napartuk, Mélanie, Bouchard, Isabelle, Meloche, Caroline, Morel, Sophia, Prud’homme, Nicolas, Gélinas, Isabelle, Higgins, Johanne, Curnier, Daniel, Sultan, Serge, Laverdière, Caroline, Sinnett, Daniel, Marcil, Valérie

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Human copy number variants are enriched in regions of low mappability von Monlong, Jean, Cossette, Patrick, Meloche, Caroline, Rouleau, Guy, Girard, Simon L, Bourque, Guillaume

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies von Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Hollingsworth, Georgie, FitzPatrick, David R., Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E., Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Õunap, Katrin, Wojcik, Monica H., Albert, Dara V.F., Venkateswaran, Sunita, Ware, Tyson, Liu, Yu-Chi, Mohammad, Shekeeb S., Bizargity, Peyman, Bacino, Carlos A., Leuzzi, Vincenzo, Martinelli, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Blumkin, Lubov, Wierenga, Klaas J., Purcarin, Gabriela, O’Byrne, James J., Stockler, Sylvia, Lehman, Anna, Keren, Boris, Nougues, Marie-Christine, Mignot, Cyril, Auvin, Stéphane, Nava, Caroline, Hiatt, Susan M., Bebin, Martina, Shao, Yunru, Scaglia, Fernando, Frye, Richard E., Jarjour, Imad T., Jacques, Stéphanie, Boucher, Renee-Myriam, Riou, Emilie, Srour, Myriam, Carmant, Lionel, Lortie, Anne, Major, Philippe, Diadori, Paola, Dubeau, François, D’Anjou, Guy, Bourque, Guillaume, Berkovic, Samuel F., Sadleir, Lynette G., Campeau, Philippe M., Kibar, Zoha, Lafrenière, Ronald G., Girard, Simon L., Mercimek-Mahmutoglu, Saadet, Boelman, Cyrus, Rouleau, Guy A., Scheffer, Ingrid E., Mefford, Heather C., Andrade, Danielle M., Rossignol, Elsa, Minassian, Berge A., Michaud, Jacques L.

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Expanding the Clinical Phenotype Associated With ELOVL4 Mutation: Study of a Large French-Canadian Family With Autosomal Dominant Spinocerebellar Ataxia and Erythrokeratodermia von Cadieux-Dion, Maxime, Turcotte-Gauthier, Maude, Noreau, Anne, Martin, Caroline, Meloche, Caroline, Gravel, Micheline, Drouin, Christian Allen, Rouleau, Guy A, Nguyen, Dang Khoa, Cossette, Patrick

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Abstract B59: Cardiometabolic complications after pediatric cancer: Associations with chemotherapeutic agents and body-mass-index fluctuations von Belanger, Veronique, Warin, Alexandre, Tonova, Elitsa, Bouchard, Isabelle, Meloche, Caroline, Curnier, Daniel, Sultan, Serge, Laverdiere, Caroline, Sinnett, Daniel, Marcil, Valerie

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Abstract A57: Feasibility of physical activity in children with cancer: A multidisciplinary program in the context of the VIE study von Caru, Maxime, Duhamel, Gabrielle, Marcil, Valérie, Sultan, Serge, Meloche, Caroline, Bouchard, Isabelle, Drouin, Simon, Bertout, Laurence, Laverdière, Caroline, Sinnett, Daniel, Curnier, Daniel

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Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy von Lachance-Touchette, Pamela, Brown, Patricia, Meloche, Caroline, Kinirons, Peter, Lapointe, Line, Lacasse, Hélène, Lortie, Anne, Carmant, Lionel, Bedford, Fiona, Bowie, Derek, Cossette, Patrick

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Novel α1 and γ2 GABA A receptor subunit mutations in families with idiopathic generalized epilepsy von Lachance‐Touchette, Pamela, Brown, Patricia, Meloche, Caroline, Kinirons, Peter, Lapointe, Line, Lacasse, Hélène, Lortie, Anne, Carmant, Lionel, Bedford, Fiona, Bowie, Derek, Cossette, Patrick

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The VIE study: feasibility of a physical activity intervention in a multidisciplinary program in children with cancer von Caru, Maxime, Duhamel, Gabrielle, Marcil, Valérie, Sultan, Serge, Meloche, Caroline, Bouchard, Isabelle, Drouin, Simon, Bertout, Laurence, Laverdiere, Caroline, Sinnett, Daniel, Curnier, Daniel

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Variable continental distribution of polymorphisms in the coding regions of DNA-repair genes von Mathonnet, Géraldine, Labuda, Damian, Meloche, Caroline, Wambach, Tina, Krajinovic, Maja, Sinnett, Daniel

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Novel alpha 1 and gamma 2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy von Lachance-Touchette, Pamela, Brown, Patricia, Meloche, Caroline, Kinirons, Peter, Lapointe, Line, Lacasse, Helene, Lortie, Anne, Carmant, Lionel, Bedford, Fiona, Bowie, Derek, Cossette, Patrick

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Disruption of AP1S1, Causing a Novel Neurocutaneous Syndrome, Perturbs Development of the Skin and Spinal Cord: e1000296 von Montpetit, Alexandre, Côté, Stéphanie, Brustein, Edna, Drouin, Christian A, Lapointe, Line, Boudreau, Michèle, Meloche, Caroline, Drouin, Régen, Hudson, Thomas J, Drapeau, Pierre, Cossette, Patrick

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Chemo-genomic interrogation of CEBPA mutated AML reveals recurrent CSF3R mutations and subgroup sensitivity to JAK inhibitors von Lavallée, Vincent-Philippe, Krosl, Jana, Lemieux, Sébastien, Boucher, Geneviève, Gendron, Patrick, Pabst, Caroline, Boivin, Isabel, Marinier, Anne, Guidos, Cynthia J., Meloche, Sylvain, Hébert, Josée, Sauvageau, Guy

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