Rare-disease genetics in the era of next-generation sequencing: discovery to translation
Boycott, Kym M., Vanstone, Megan R., Bulman, Dennis E., MacKenzie, Alex E.
Published in Nature reviews. Genetics (01.10.2013)
Published in Nature reviews. Genetics (01.10.2013)
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Journal Article
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Boycott, Kym M., Rath, Ana, Chong, Jessica X., Hartley, Taila, Alkuraya, Fowzan S., Baynam, Gareth, Brookes, Anthony J., Brudno, Michael, Carracedo, Angel, den Dunnen, Johan T., Dyke, Stephanie O.M., Estivill, Xavier, Goldblatt, Jack, Gonthier, Catherine, Groft, Stephen C., Gut, Ivo, Hamosh, Ada, Hieter, Philip, Höhn, Sophie, Hurles, Matthew E., Kaufmann, Petra, Knoppers, Bartha M., Krischer, Jeffrey P., Macek, Milan, Matthijs, Gert, Olry, Annie, Parker, Samantha, Paschall, Justin, Philippakis, Anthony A., Rehm, Heidi L., Robinson, Peter N., Sham, Pak-Chung, Stefanov, Rumen, Taruscio, Domenica, Unni, Divya, Vanstone, Megan R., Zhang, Feng, Brunner, Han, Bamshad, Michael J., Lochmüller, Hanns
Published in American journal of human genetics (04.05.2017)
Published in American journal of human genetics (04.05.2017)
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Journal Article
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy
Vanstone, Jason R, Smith, Amanda M, McBride, Skye, Naas, Turaya, Holcik, Martin, Antoun, Ghadi, Harper, Mary-Ellen, Michaud, Jean, Sell, Erick, Chakraborty, Pranesh, Tetreault, Martine, Majewski, Jacek, Baird, Stephen, Boycott, Kym M, Dyment, David A, MacKenzie, Alex, Lines, Matthew A
Published in European journal of human genetics : EJHG (01.07.2016)
Published in European journal of human genetics : EJHG (01.07.2016)
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Journal Article
Mutations in PIK3R1 Cause SHORT Syndrome
Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M., Innes, A. Micheil
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases
Choquet, Karine, Tétreault, Martine, Yang, Sharon, La Piana, Roberta, Dicaire, Marie-Josée, Vanstone, Megan R, Mathieu, Jean, Bouchard, Jean-Pierre, Rioux, Marie-France, Rouleau, Guy A, Boycott, Kym M, Majewski, Jacek, Brais, Bernard
Published in European journal of human genetics : EJHG (01.07.2016)
Published in European journal of human genetics : EJHG (01.07.2016)
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Journal Article
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
Zambonin, Jessica L, Bellomo, Allison, Ben-Pazi, Hilla, Everman, David B, Frazer, Lee M, Geraghty, Michael T, Harper, Amy D, Jones, Julie R, Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R, Gibbons, Melissa, Collins, Abigail, Fogel, Brent L, Dudding-Byth, Tracy, Boycott, Kym M
Published in Orphanet journal of rare diseases (28.06.2017)
Published in Orphanet journal of rare diseases (28.06.2017)
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Journal Article
Rapporteur overview summary of the 2nd on-line MIMA international conference concerning high temperature plant: materials, inspection, monitoring & assessment
Allen, DJ, Asvergren, K, Holdsworth, SR, Huysmans, S, Lockyer, S, Robertson, D, Shibli, A, Skelton, RP, Tonti, A, Vanstone, R, Yagi, K
Published in Materials at high temperatures (04.03.2023)
Published in Materials at high temperatures (04.03.2023)
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Journal Article
Identification of genes for childhood heritable diseases
Boycott, Kym M, Dyment, David A, Sawyer, Sarah L, Vanstone, Megan R, Beaulieu, Chandree L
Published in Annual review of medicine (01.01.2014)
Published in Annual review of medicine (01.01.2014)
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Journal Article
The viral prescription pad - a mixed methods study to determine the need for and utility of an educational tool for antimicrobial stewardship in primary health care
Lee, Christine, Jafari, Maryam, Brownbridge, Regan, Phillips, Casey, Vanstone, Jason R
Published in BMC family practice (22.02.2020)
Published in BMC family practice (22.02.2020)
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Journal Article
Development, implementation and impact of an immunoglobulin stewardship programme in Saskatchewan, Canada
Sarker, Kinsuk, Vanstone, Jason R., Adigun, Oluwaferanmi, Boutilier, Brad, Comeau, Jessica, Degelman, Michelle L., Gottselig, Paul, Berry, Warren E., Milne, Ardyth, Van Vliet, Paula, Harding, Sheila Rutledge
Published in Vox sanguinis (01.04.2024)
Published in Vox sanguinis (01.04.2024)
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Journal Article
Recovery of motor function in ambulatory hand trauma using chloroprocaine 2
Abdelhadi, A., Vanstone, R., Oldman, M.
Published in British journal of anaesthesia : BJA (01.09.2021)
Published in British journal of anaesthesia : BJA (01.09.2021)
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Journal Article
Development of a Patient-Oriented Intervention to Support Patient-Provider Conversations about Unnecessary Lower Back Pain Imaging
Madani Larijani, Maryam, Dumba, Cindy, Thiessen, Heather, Palen, Angie, Carr, Tracey, Vanstone, Jason R, Fourney, Daryl R, Hartness, Collin, Parker, Robert, Groot, Gary
Published in International journal of environmental research and public health (09.03.2021)
Published in International journal of environmental research and public health (09.03.2021)
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Journal Article
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
Huang, Lijia, Vanstone, Megan R., Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B., Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P., Goel, Himanshu, Gregersen, Pernille A., Gripp, Karen W., Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H., Hudson, Cindy, Hunter, Alasdair G.W., Johnson, John, Joss, Shelagh K., Kimball, Amy, Kini, Usha, Kline, Antonie D., Lauzon, Julie, Lildballe, Dorte L., López-González, Vanesa, Martinezmoles, Johanna, Meldrum, Cliff, Mirzaa, Ghayda M., Morel, Chantal F., Morton, Jenny E.V., Pyle, Louise C., Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E., Schönewolf-Greulich, Bitten, Shears, Deborah J., Silver, Josh, Smith, Amanda C., Temple, I. Karen, van de Kamp, Jiddeke M., van Dijk, Fleur S., Vandersteen, Anthony M., White, Sue M., Zackai, Elaine H., Zou, Ruobing, Consortium, Care4Rare Canada, Bulman, Dennis E., Boycott, Kym M., Lines, Matthew A.
Published in Human mutation (01.02.2016)
Published in Human mutation (01.02.2016)
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Journal Article
Identification of Staphylococci by Polymerase Chain Reaction Directly from a Positive Blood Culture and Effect on Patient Care
Wade-Cummings, Molly, Mailman, Jonathan F, Degelman, Michelle L, Phillips, Casey, Vanstone, Jason R
Published in Canadian journal of hospital pharmacy (01.01.2021)
Published in Canadian journal of hospital pharmacy (01.01.2021)
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Journal Article
Neuropathologic Features of Pontocerebellar Hypoplasia Type 6
Joseph, Jeffrey T, Innes, A Micheil, Smith, Amanda C, Vanstone, Megan R, Schwartzentruber, Jeremy A, Bulman, Dennis E, Majewski, Jacek, Daza, Ray A, Hevner, Robert F, Michaud, Jean, Boycott, Kym M
Published in Journal of neuropathology and experimental neurology (01.11.2014)
Published in Journal of neuropathology and experimental neurology (01.11.2014)
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Journal Article
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy
Dyment, D.A., Sell, E., Vanstone, M.R., Smith, A.C., Garandeau, D., Garcia, V., Carpentier, S., Le Trionnaire, E., Sabourdy, F., Beaulieu, C.L., Schwartzentruber, J.A., McMillan, H.J., Majewski, J., Bulman, D.E., Levade, T., Boycott, K.M.
Published in Clinical genetics (01.12.2014)
Published in Clinical genetics (01.12.2014)
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Journal Article
Forcing of hydroclimatic variability in the northwestern Great Plains since AD 1406
Lapp, Suzan L., St. Jacques, Jeannine-Marie, Sauchyn, David J., Vanstone, Jessica R.
Published in Quaternary international (15.10.2013)
Published in Quaternary international (15.10.2013)
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Journal Article
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion
Antoun, Ghadi, McBride, Skye, Vanstone, Jason R., Naas, Turaya, Michaud, Jean, Redpath, Stephanie, McMillan, Hugh J., Brophy, Jason, Daoud, Hussein, Chakraborty, Pranesh, Dyment, David, Holcik, Martin, Harper, Mary-Ellen, Lines, Matthew A.
Published in JIMD Reports, Volume 27 (01.01.2016)
Published in JIMD Reports, Volume 27 (01.01.2016)
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Book Chapter
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