De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome by Sleven, Hannah, Welsh, Seth J., Yu, Jing, Churchill, Mair E.A., Wright, Caroline F., Henderson, Alex, Horvath, Rita, Rankin, Julia, Vogt, Julie, Magee, Alex, McConnell, Vivienne, Green, Andrew, King, Mary D., Cox, Helen, Armstrong, Linlea, Lehman, Anna, Nelson, Tanya N., Williams, Jonathan, Clouston, Penny, Hagman, James, Németh, Andrea H.

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Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy by Demos, Michelle, Guella, Ilaria, DeGuzman, Conrado, McKenzie, Marna B, Buerki, Sarah E, Evans, Daniel M, Toyota, Eric B, Boelman, Cyrus, Huh, Linda L, Datta, Anita, Michoulas, Aspasia, Selby, Kathryn, Bjornson, Bruce H, Horvath, Gabriella, Lopez-Rangel, Elena, van Karnebeek, Clara D M, Salvarinova, Ramona, Slade, Erin, Eydoux, Patrice, Adam, Shelin, Van Allen, Margot I, Nelson, Tanya N, Bolbocean, Corneliu, Connolly, Mary B, Farrer, Matthew J

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Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia by Sinclair, Graham, McMahon, Vanessa, Schellenberg, Amy, Nelson, Tanya N, Chilvers, Mark, Vallance, Hilary

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The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results by Bombard, Yvonne, Brothers, Kyle B., Fitzgerald-Butt, Sara, Garrison, Nanibaa’ A., Jamal, Leila, James, Cynthia A., Jarvik, Gail P., McCormick, Jennifer B., Nelson, Tanya N., Ormond, Kelly E., Rehm, Heidi L., Richer, Julie, Souzeau, Emmanuelle, Vassy, Jason L., Wagner, Jennifer K., Levy, Howard P.

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A study on the incidence and prevalence of 5q spinal muscular atrophy in Canada using multiple data sources by Price, Tiffany R, Hodgkinson, Victoria, Westbury, Grace, Korngut, Lawrence, Innes, A Micheil, Marshall, Christian R, Nelson, Tanya N, Huang, Lijia, Parboosingh, Jillian, Mah, Jean K

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The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome by Chen, Chun-An, Crutcher, Emeline, Gill, Harinder, Nelson, Tanya N, Robak, Laurie A, Jongmans, Marjolijn C.J, Pfundt, Rolph, Prasad, Chitra, Berard, Roberta A, Fannemel, Madeleine, Frengen, Eirik, Misceo, Doriana, Ramsey, Keri, Yang, Yaping, Schaaf, Christian P, Wang, Xia, CAUSES, Study, C4RCD, Research Group

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Is the diagnostic rate for the common subtypes of A1AT deficiency consistent across two Canadian Provinces? by Estey, Mathew P., Tahooni, Tania, Nelson, Tanya N., Parker, Michelle L., Agbor, Terence A., Yang, Hui-Min, Jen, Rachel, Barakauskas, Vilte E., Lam, Grace Y., Matthews, Allison, Mattman, Andre

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NullCanada: A novel α1-antitrypsin allele with in cis variants Glu366Lys and Ile100Asn by Chen, Sharon, DeMarco, Mari L., Estey, Mathew P., Kyle, Barry, Parker, Michelle L., Agbor, Terence A., Kawada, Patricia, Speevak, Marsha, Nelson, Tanya N., Mattman, Andre

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Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison by Mattman, Andre, Gilfix, Brian M., Chen, Sharon Xuehui, DeMarco, Mari L., Kyle, Barry D., Parker, Michelle L., Agbor, Terence A., Jung, Benjamin, Selvarajah, Shamini, Barakauskas, Vilte E., Vaags, Andrea K., Estey, Mathew P., Nelson, Tanya N., Speevak, Marsha D.

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An Infant With Epilepsy and Recurrent Hemiplegia Due to Compound Heterozygous Variants in ATP1A2 by Wilbur, Colin, Buerki, Sarah E, Guella, Ilaria, Toyota, Eric, Evans, Daniel M, Mckenzie, Marna B, Datta, Anita, Michoulas, Aspasia, Adam, Shelin, Van Allen, Margot, Nelson, Tanya N, Farrer, Matthew J, Connolly, Mary B, Demos, Michelle

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Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, Canada by Cook, Courtney B., Dragojlovic, Nick, Siemens, Angela, Adam, Shelin, du Souich, Christèle, van Karnebeek, Clara, Lehman, Anna, Nelson, Tanya N., Friedman, Jan, Lynd, Larry D., Elliott, Alison M.

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Renpenning syndrome in a female by Cho, Raymond Y., Peñaherrera, Maria S., Du Souich, Christele, Huang, Lijia, Mwenifumbo, Jill, Nelson, Tanya N., Elliott, Alison M., Adam, Shelin, Eydoux, Patrice, Yang, Gui X., Chijiwa, Chieko, Van Allen, Margot I., Friedman, Jan M., Robinson, Wendy P., Lehman, Anna

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A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction by Demos, Michelle K., Macri, Vincenzo, Farrell, Kevin, Nelson, Tanya N., Chapman, Kristine, Accili, Eric, Armstrong, Linlea

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Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study by Elliott, Alison M., Adam, Shelin, du Souich, Christèle, Lehman, Anna, Nelson, Tanya N., van Karnebeek, Clara, Alderman, Emily, Armstrong, Linlea, Aubertin, Gudrun, Blood, Katherine, Boelman, Cyrus, Boerkoel, Cornelius, Bretherick, Karla, Brown, Lindsay, Chijiwa, Chieko, Clarke, Lorne, Couse, Madeline, Creighton, Susan, Watts-Dickens, Abby, Gibson, William T., Gill, Harinder, Tarailo-Graovac, Maja, Hamilton, Sara, Heran, Harindar, Horvath, Gabriella, Huang, Lijia, Hulait, Gurdip K., Koehn, David, Lee, Hyun Kyung, Lewis, Suzanne, Lopez, Elena, Louie, Kristal, Niederhoffer, Karen, Matthews, Allison, Meagher, Kirsten, Peng, Junran J., Patel, Millan S., Race, Simone, Richmond, Phillip, Rupps, Rosemarie, Salvarinova, Ramona, Seath, Kimberly, Selby, Kathryn, Steinraths, Michelle, Stockler, Sylvia, Tang, Kaoru, Tyson, Christine, van Allen, Margot, Wasserman, Wyeth, Mwenifumbo, Jill, Friedman, Jan M.

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A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources by Price, Tiffany R., Hodgkinson, Victoria, Westbury, Grace, Korngut, Lawrence, Innes, Micheil A., Marshall, Christian R., Nelson, Tanya N., Huang, Lijia, Parboosingh, Jillian, Mah, Jean K.

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The Genomic Consultation Service: A clinical service designed to improve patient selection for genome‐wide sequencing in British Columbia by Elliott, Alison M., Souich, Christèle, Adam, Shelin, Dragojlovic, Nick, Karnebeek, Clara, Nelson, Tanya N., Lehman, Anna, Lynd, Larry D., Friedman, Jan M.

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Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome by McLarren, Keith W., Severson, Tesa M., du Souich, Christèle, Stockton, David W., Kratz, Lisa E., Cunningham, David, Hendson, Glenda, Morin, Ryan D., Wu, Diane, Paul, Jessica E., An, Jianghong, Nelson, Tanya N., Chou, Athena, DeBarber, Andrea E., Merkens, Louise S., Michaud, Jacques L., Waters, Paula J., Yin, Jingyi, McGillivray, Barbara, Demos, Michelle, Rouleau, Guy A., Grzeschik, Karl-Heinz, Smith, Raffaella, Tarpey, Patrick S., Shears, Debbie, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Arbour, Laura, Hurlburt, Jane, Van Allen, Margot I., Herman, Gail E., Zhao, Yongjun, Moore, Richard, Kelley, Richard I., Jones, Steven J.M., Steiner, Robert D., Raymond, F. Lucy, Marra, Marco A., Boerkoel, Cornelius F.

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De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy by Guella, Ilaria, Huh, Linda, McKenzie, Marna B, Toyota, Eric B, Bebin, E Martina, Thompson, Michelle L, Cooper, Gregory M, Evans, Daniel M, Buerki, Sarah E, Adam, Shelin, Van Allen, Margot I, Nelson, Tanya N, Connolly, Mary B, Farrer, Matthew J, Demos, Michelle

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Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus by du Souich, Christèle, Chou, Athena, Yin, Jingyi, Oh, Tracey, Nelson, Tanya N., Hurlburt, Jane, Arbour, Laura, Friedlander, Robin, McGillivray, Barbara C., Tyshchenko, Nataliya, Rump, Andreas, Poskitt, Kenneth J., Demos, Michelle K., Van Allen, Margot I., Boerkoel, Cornelius F.

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders by Faundes, Víctor, Demos, Michelle K., Goldman, Amy, Lehman, Anna, McKee, Shane, Morton, Jenny, Rankin, Julia, Temple, I. Karen, Adam, Shelin, van Karnebeek, Clara, Aitken, Stuart, Alvi, Mohsan, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Mason, Laura E., Tivey, Adrian R., Ahmed, Munaza, Balasubramanian, Meena, Barnicoat, Angela, Bitner-Glindzicz, Maria, Bourdon, Louise, Bradley, Lisa, Burn, John, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Crow, Yanick, Dabir, Tabib, Davidson, Rosemarie, de Vries, Dylan, Deshpande, Charu, Dixit, Abhijit, Dobbie, Angus, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Flinter, Frances, Foulds, Nicola, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Greene, Philip, Gribble, Susan, Holder, Muriel, Hollingsworth, Georgina, Ingram, Stuart, Jenkins, Lucy, Joss, Shelagh, Kerr, Bronwyn, Kini, Usha, Kraus, Alison, Lachlan, Katherine, Marks, Karen, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, Middleton, Anna, Mohammed, Shehla, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Samant, Shalaka, Selby, Ann, Sequeira, Cheryl, Shears, Debbie, Smith, Audrey, Smith, Kath, Splitt, Miranda, Squires, Miranda, Tomkins, Susan, Treacy, Becky, Tysoe, Carolyn, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Whiteford, Margo, Wilcox, Sarah, Wilkinson, Emily, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R.

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