Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma von Deml, Brett, Reis, Linda M, Lemyre, Emmanuelle, Clark, Robin D, Kariminejad, Ariana, Semina, Elena V

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Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples von Huguet, Guillaume, Schramm, Catherine, Douard, Elise, Jiang, Lai, Labbe, Aurélie, Tihy, Frédérique, Mathonnet, Géraldine, Nizard, Sonia, Lemyre, Emmanuelle, Mathieu, Alexandre, Poline, Jean-Baptiste, Loth, Eva, Toro, Roberto, Schumann, Gunter, Conrod, Patricia, Pausova, Zdenka, Greenwood, Celia, Paus, Tomas, Bourgeron, Thomas, Jacquemont, Sébastien

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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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P822: Navigating genetic risk: Mapping variant's probability of occurring de novo and inferring their effect sizes on neurodevelopmental symptoms von England, Jade, Huguet, Guillaume, Jizi, Khadijé, Poulain, Cécile, Douard, Élise, Saci, Zohra, Maftei, Catalina, Lemyre, Emmanuelle, Jacquemont, Sébastien

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NUP98‐BPTF gene fusion identified in primary refractory acute megakaryoblastic leukemia of infancy von Roussy, Mathieu, Bilodeau, Mélanie, Jouan, Loubna, Tibout, Pauline, Laramée, Louise, Lemyre, Emmanuelle, Léveillé, France, Tihy, Frédérique, Cardin, Sophie, Sauvageau, Camille, Couture, Françoise, Louis, Isabelle, Choblet, Aurélien, Patey, Natalie, Gendron, Patrick, Duval, Michel, Teira, Pierre, Hébert, Josée, Wilhelm, Brian T., Choi, John K., Gruber, Tanja A., Bittencourt, Henrique, Cellot, Sonia

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Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes von Tucker, Tracy, Zahir, Farah R, Griffith, Malachi, Delaney, Allen, Chai, David, Tsang, Erica, Lemyre, Emmanuelle, Dobrzeniecka, Sylvia, Marra, Marco, Eydoux, Patrice, Langlois, Sylvie, Hamdan, Fadi F, Michaud, Jacques L, Friedman, Jan M

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Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay von Mucha, Bettina E., Banka, Siddharth, Ajeawung, Norbert Fonya, Molidperee, Sirinart, Chen, Gary G., Koenig, Mary Kay, Adejumo, Rhamat B., Till, Marianne, Harbord, Michael, Perrier, Renee, Lemyre, Emmanuelle, Boucher, Renee-Myriam, Skotko, Brian G., Waxler, Jessica L., Thomas, Mary Ann, Hodge, Jennelle C., Gecz, Jozef, Nicholl, Jillian, McGregor, Lesley, Linden, Tobias, Sisodiya, Sanjay M., Sanlaville, Damien, Cheung, Sau W., Ernst, Carl, Campeau, Philippe M.

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P332: A homozygous POU3F2 polyproline tract expansion is associated with severe psychomotor delay, developmental and epileptic encephalopathy, and ichthyosis von Tremblay-Laganière, Camille, Ehresmann, Sophie, Levtova, Alina, Gauthier, Julie, Fu, He, McEvilly, Robert, Rosenfeld, Michael, Simard-Tremblay, Elisabeth, DeBie, Isabelle, Soucy, Jean-Francois, Michaud, Jacques, Lemyre, Emmanuelle, Campeau, Philippe

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Correlation of intercentromeric distance, mosaicism, and sexual phenotype: Molecular localization of breakpoints in isodicentric Y chromosomes von Bergeron, Mélanie Beaulieu, Brochu, Pierre, Lemyre, Emmanuelle, Lemieux, Nicole

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Successful desensitization in a type VI mucopolysaccharidosis patient with probable IgE-mediated allergy to galsulfase [Naglazyme] von Bégin, Philippe, MD, MSc, FRCPC, Chapdelaine, Hugo, MD, FRCPC, Lemyre, Emmanuelle, MD, FRCPC, Paradis, Louis, MD, FRCPC, FAAAAI, Des Roches, Anne, MD, FRCPC, FAAAAI

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Familial deletion 18p syndrome: case report von Maranda, Bruno, Lemieux, Nicole, Lemyre, Emmanuelle

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

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Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder von Li, Sing-Chung, Chen, Chiao-Ming, Goldstein, Jennifer L., Wu, Jer-Yuarn, Lemyre, Emmanuelle, Burrow, Thomas Andrew, Kang, Peter B., Chen, Yuan-Tsong, Bali, Deeksha S.

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Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX von Miranda, Valancy, Sabeh, Pascale, Seiltgens, Cristian, Molidperee, Sirinart, Janelle, Chantal, Lemyre, Emmanuelle, Campeau, Philippe M

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Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease von Hitz, Marc-Phillip, Lemieux-Perreault, Louis-Philippe, Marshall, Christian, Feroz-Zada, Yassamin, Davies, Robbie, Yang, Shi Wei, Lionel, Anath Christopher, D'Amours, Guylaine, Lemyre, Emmanuelle, Cullum, Rebecca, Bigras, Jean-Luc, Thibeault, Maryse, Chetaille, Philippe, Montpetit, Alexandre, Khairy, Paul, Overduin, Bert, Klaassen, Sabine, Hoodless, Pamela, Awadalla, Philip, Hussin, Julie, Idaghdour, Youssef, Nemer, Mona, Stewart, Alexandre F. R., Boerkoel, Cornelius, Scherer, Stephen W., Richter, Andrea, Dubé, Marie-Pierre, Andelfinger, Gregor

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Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization von Friedman, Jm, Adam, Shelin, Arbour, Laura, Armstrong, Linlea, Baross, Agnes, Birch, Patricia, Boerkoel, Cornelius, Chan, Susanna, Chai, David, Delaney, Allen D, Flibotte, Stephane, Gibson, William T, Langlois, Sylvie, Lemyre, Emmanuelle, Li, H Irene, MacLeod, Patrick, Mathers, Joan, Michaud, Jacques L, McGillivray, Barbara C, Patel, Millan S, Qian, Hong, Rouleau, Guy A, Van Allen, Margot I, Yong, Siu-Li, Zahir, Farah R, Eydoux, Patrice, Marra, Marco A

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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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Bi‐allelic variants in MYH3 cause recessively‐inherited arthrogryposis von Morali, Burcin, Miranda, Valancy, Raelson, John, Grimard, Guy, Glavas, Peter, Audibert, François, Dumont, Nicolas A., Barone, Julia, Bamshad, Michael, Lemyre, Emmanuelle, Campeau, Philippe M.

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Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions von Bardai, Ghalib, Lemyre, Emmanuelle, Moffatt, Pierre, Palomo, Telma, Glorieux, Francis H., Tung, Joanna, Ward, Leanne, Rauch, Frank

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Iron-Refractory Iron Deficiency Anemia May Not Lead to Neurocognitive Dysfunction: A Case Report von Arsenault, Valérie, Mailloux, Chantal, Bonnefoy, Arnaud, Lemyre, Emmanuelle, Pastore, Yves

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