Expansion of phenotype and genotypic data in CRB2-related syndrome
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
Published in European journal of human genetics : EJHG (01.10.2016)
Published in European journal of human genetics : EJHG (01.10.2016)
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Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo
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
Published in G3 : genes - genomes - genetics (06.05.2022)
Published in G3 : genes - genomes - genetics (06.05.2022)
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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 Northern Tanzania
Nyanza, Elias C., Bernier, Francois P., Martin, Jonathan W., Manyama, Mange, Hatfield, Jennifer, Dewey, Deborah
Published in Environment international (01.04.2021)
Published in Environment international (01.04.2021)
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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
Nyanza, Elias C., Dewey, Deborah, Manyama, Mange, Martin, Jonathan W., Hatfield, Jennifer, Bernier, Francois P.
Published in Environment international (01.04.2020)
Published in Environment international (01.04.2020)
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A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency
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
Published in American journal of human genetics (06.11.2014)
Published in American journal of human genetics (06.11.2014)
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Journal Article
Prevalence rates study of selected isolated non‐Mendelian congenital anomalies in the Hutterite population of Alberta, 1980–2016
Lowry, R. Brian, Bedard, Tanya, Crawford, Susan, Grevers, Xin, Bernier, François P., Thomas, Mary Ann
Published in American journal of medical genetics. Part A (01.11.2020)
Published in American journal of medical genetics. Part A (01.11.2020)
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Journal Article
Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
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.
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
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Journal Article
The changing prevalence of autism in three regions of Canada
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.
Published in Journal of autism and developmental disorders (2014)
Published in Journal of autism and developmental disorders (2014)
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Journal Article
Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy
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
Published in American journal of human genetics (07.08.2014)
Published in American journal of human genetics (07.08.2014)
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Journal Article
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans
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.
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Journal Article
Fully Automatic Landmarking of Syndromic 3D Facial Surface Scans Using 2D Images
Bannister, Jordan J, Crites, Sebastian R, Aponte, J David, Katz, David C, Wilms, Matthias, Klein, Ophir D, Bernier, Francois P J, Spritz, Richard A, Hallgrímsson, Benedikt, Forkert, Nils D
Published in Sensors (Basel, Switzerland) (03.06.2020)
Published in Sensors (Basel, Switzerland) (03.06.2020)
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FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
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.
Published in American journal of human genetics (05.06.2014)
Published in American journal of human genetics (05.06.2014)
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Journal Article
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population
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.
Published in American journal of medical genetics. Part A (01.03.2017)
Published in American journal of medical genetics. Part A (01.03.2017)
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Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery
Boycott, Kym M., Hartley, Taila, Kernohan, Kristin D., Dyment, David A., Howley, Heather, Innes, A. Micheil, Bernier, Francois P., Brudno, Michael
Published in American journal of human genetics (03.11.2022)
Published in American journal of human genetics (03.11.2022)
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Journal Article
The hutterite variant of treacher collins syndrome: A 28-year-old story solved
Caluseriu, Oana, Lowry, Brian R., McLeod, Ross, Lamont, Ryan, Parboosingh, Jillian S., Bernier, Francois P., Innes, A. Micheil
Published in American journal of medical genetics. Part A (01.11.2013)
Published in American journal of medical genetics. Part A (01.11.2013)
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The developmental-genetics of canalization
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.
Published in Seminars in cell & developmental biology (01.04.2019)
Published in Seminars in cell & developmental biology (01.04.2019)
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(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada
Michaels-Igbokwe, Christine, McInnes, Brenda, MacDonald, Karen V., Currie, Gillian R., Omar, Fadya, Shewchuk, Brittany, Bernier, Francois P., Marshall, Deborah A.
Published in Genetics in medicine (01.02.2021)
Published in Genetics in medicine (01.02.2021)
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The value of diagnostic testing for parents of children with rare genetic diseases
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.
Published in Genetics in medicine (01.12.2019)
Published in Genetics in medicine (01.12.2019)
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An interactive atlas of three-dimensional syndromic facial morphology
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
Published in American journal of human genetics (04.01.2024)
Published in American journal of human genetics (04.01.2024)
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