Expansion of phenotype and genotypic data in CRB2-related syndrome von Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathryn J, Krall, Max, Mehta, Lakshmi, Rodan, Lance H, Saller, Jr, Devereux N, Steele, Deanna, Stein, Deborah, Yatsenko, Svetlana A, Bernier, François P, Slavotinek, Anne M

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Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo von Blackwell, Danielle L, Fraser, Sherri D, Caluseriu, Oana, Vivori, Claudia, Tyndall, Amanda V, Lamont, Ryan E, Parboosingh, Jillian S, Innes, A Micheil, Bernier, François P, Childs, Sarah J

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Effects of prenatal exposure and co-exposure to metallic or metalloid elements on early infant neurodevelopmental outcomes in areas with small-scale gold mining activities in North... von Nyanza, Elias C., Bernier, Francois P., Martin, Jonathan W., Manyama, Mange, Hatfield, Jennifer, Dewey, Deborah

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Maternal exposure to arsenic and mercury and associated risk of adverse birth outcomes in small-scale gold mining communities in Northern Tanzania von Nyanza, Elias C., Dewey, Deborah, Manyama, Mange, Martin, Jonathan W., Hatfield, Jennifer, Bernier, Francois P.

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A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency von Buchert, Rebecca, Tawamie, Hasan, Smith, Christopher, Uebe, Steffen, Innes, A. Micheil, Al Hallak, Bassam, Ekici, Arif B., Sticht, Heinrich, Schwarze, Bernd, Lamont, Ryan E., Parboosingh, Jillian S., Bernier, Francois P., Abou Jamra, Rami

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Maternal exposure to arsenic and mercury in small-scale gold mining areas of Northern Tanzania von Nyanza, Elias C., Bernier, Francois P., Manyama, Mange, Hatfield, Jennifer, Martin, Jonathan W., Dewey, Deborah

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The changing prevalence of autism in three regions of Canada von Ouellette-Kuntz, Hélène, Coo, Helen, Lam, Miu, Breitenbach, Marlene M., Hennessey, Paula E., Jackman, Paulette D., Lewis, M. E. Suzanne, Dewey, Deborah, Bernier, François P., Chung, Amy M.

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Prevalence rates study of selected isolated non‐Mendelian congenital anomalies in the Hutterite population of Alberta, 1980–2016 von Lowry, R. Brian, Bedard, Tanya, Crawford, Susan, Grevers, Xin, Bernier, François P., Thomas, Mary Ann

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Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome von Bernier, Francois P., Caluseriu, Oana, Ng, Sarah, Schwartzentruber, Jeremy, Buckingham, Kati J., Innes, A. Micheil, Jabs, Ethylin Wang, Innis, Jeffrey W., Schuette, Jane L., Gorski, Jerome L., Byers, Peter H., Andelfinger, Gregor, Siu, Victoria, Lauzon, Julie, Fernandez, Bridget A., McMillin, Margaret, Scott, Richard H., Racher, Hilary, Majewski, Jacek, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Parboosingh, Jillian S.

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Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy von Aldinger, Kimberly A., Mosca, Stephen J., Tétreault, Martine, Dempsey, Jennifer C., Ishak, Gisele E., Hartley, Taila, Phelps, Ian G., Lamont, Ryan E., O’Day, Diana R., Basel, Donald, Gripp, Karen W., Baker, Laura, Stephan, Mark J., Bernier, Francois P., Boycott, Kym M., Majewski, Jacek, Parboosingh, Jillian S., Innes, A. Micheil, Doherty, Dan

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RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans von Shamseldin, Hanan, Alazami, Anas M., Manning, Melanie, Hashem, Amal, Caluseiu, Oana, Tabarki, Brahim, Esplin, Edward, Schelley, Susan, Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan, Majewski, Jacek, Bernier, Francois P., Alkuraya, Fowzan S.

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Fully Automatic Landmarking of Syndromic 3D Facial Surface Scans Using 2D Images von Bannister, Jordan J., Crites, Sebastian R., Aponte, J. David, Katz, David C., Wilms, Matthias, Klein, Ophir D., Bernier, Francois P. J., Spritz, Richard A., Hallgrimsson, Benedikt, Forkert, Nils D.

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FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project von Beaulieu, Chandree L., Majewski, Jacek, Schwartzentruber, Jeremy, Samuels, Mark E., Fernandez, Bridget A., Bernier, Francois P., Brudno, Michael, Knoppers, Bartha, Marcadier, Janet, Dyment, David, Adam, Shelin, Bulman, Dennis E., Jones, Steve J.M., Avard, Denise, Nguyen, Minh Thu, Rousseau, Francois, Marshall, Christian, Wintle, Richard F., Shen, Yaoqing, Scherer, Stephen W., Friedman, Jan M., Michaud, Jacques L., Boycott, Kym M.

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A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population von Lamont, Ryan E., Beaulieu, Chandree L., Bernier, Francois P., Sparkes, Rebecca, Innes, A. Micheil, Jackel‐Cram, Candice, Ober, Carole, Parboosingh, Jillian S., Lemire, Edmond G.

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Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery von Boycott, Kym M., Hartley, Taila, Kernohan, Kristin D., Dyment, David A., Howley, Heather, Innes, A. Micheil, Bernier, Francois P., Brudno, Michael

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The developmental-genetics of canalization von Hallgrimsson, Benedikt, Green, Rebecca M., Katz, David C., Fish, Jennifer L., Bernier, Francois P., Roseman, Charles C., Young, Nathan M., Cheverud, James M., Marcucio, Ralph S.

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(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada von Michaels-Igbokwe, Christine, McInnes, Brenda, MacDonald, Karen V., Currie, Gillian R., Omar, Fadya, Shewchuk, Brittany, Bernier, Francois P., Marshall, Deborah A.

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A Deep Invertible 3-D Facial Shape Model for Interpretable Genetic Syndrome Diagnosis von Bannister, Jordan J., Wilms, Matthias, Aponte, J. David, Katz, David C., Klein, Ophir D., Bernier, Francois P. J., Spritz, Richard A., Hallgrimsson, Benedikt, Forkert, Nils D.

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The value of diagnostic testing for parents of children with rare genetic diseases von Marshall, Deborah A., MacDonald, Karen V., Heidenreich, Sebastian, Hartley, Taila, Bernier, Francois P., Gillespie, Meredith K., McInnes, Brenda, Innes, A. Micheil, Armour, Christine M., Boycott, Kym M.

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An interactive atlas of three-dimensional syndromic facial morphology von Aponte, J. David, Bannister, Jordan J., Hoskens, Hanne, Matthews, Harold, Katsura, Kaitlin, Da Silva, Cassidy, Cruz, Tim, Pilz, Julie H.M., Spritz, Richard A., Forkert, Nils D., Claes, Peter, Bernier, Francois P., Klein, Ophir D., Katz, David C., Hallgrímsson, Benedikt

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