Anterolateral thigh flap fascia lata suspension in oral floor reconstruction von Zhang, Wan Jing, Ebrahimi, Ardalan, Kernohan, Michael D., Clark, Jonathan R.

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Magnetic resonance imaging: is a single scan ever enough for the diagnosis of acoustic neuroma? von Kernohan, M D, Blackmore, K J, Johnson, I J M, Zammit-Maempel, I

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Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8 von Boycott, Kym M., Beaulieu, Chandree L., Kernohan, Kristin D., Gebril, Ola H., Mhanni, Aziz, Chudley, Albert E., Redl, David, Qin, Wen, Hampson, Sarah, Küry, Sébastien, Tetreault, Martine, Puffenberger, Erik G., Scott, James N., Bezieau, Stéphane, Reis, André, Uebe, Steffen, Schumacher, Johannes, Hegele, Robert A., McLeod, D. Ross, Gálvez-Peralta, Marina, Majewski, Jacek, Ramaekers, Vincent T., Nebert, Daniel W., Innes, A. Micheil, Parboosingh, Jillian S., Abou Jamra, Rami

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ATRX promotes gene expression by facilitating transcriptional elongation through guanine-rich coding regions von Levy, Michael A, Kernohan, Kristin D, Jiang, Yan, Bérubé, Nathalie 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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Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada von Osmond, Matthew, Hartley, Taila, Dyment, David A., Kernohan, Kristin D., Brudno, Michael, Buske, Orion J., Innes, A. Micheil, Boycott, Kym M., Boycott, Kym, Brudno, Michael, Bernier, Francois, van Karnebeek, Clara, Dyment, David, Kernohan, Kristin, Innes, Micheil, Lamont, Ryan, Parboosingh, Jillian, Marshall, Deborah, Marshall, Christian, Mendoza, Roberto, Dowling, James, Hayeems, Robin, Knoppers, Bartha, Lehman, Anna, Mostafavi, Sara

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IRF2BPL‐Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent wi... von Venkateswaran, Sunita, Michaud, Jean, Ito, Yoko, Geraghty, Michael, Lewis, Evan C., Ellezam, Benjamin, Boycott, Kym M., Dyment, David A., Kernohan, Kristin D.

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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature von Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St‐Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.

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Interval brain imaging for adults with cerebral glioma von Thompson, Gerard, Lawrie, Theresa A, Kernohan, Ashleigh, Jenkinson, Michael D, Lawrie, Theresa A

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Intraoperative imaging technology to maximise extent of resection for glioma: a network meta‐analysis von Fountain, Daniel M, Fountain, Daniel M, Bryant, Andrew, Barone, Damiano Giuseppe, Waqar, Mueez, Hart, Michael G, Bulbeck, Helen, Kernohan, Ashleigh, Watts, Colin, Jenkinson, Michael D

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The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability von Huang, Yan, Lemire, Gabrielle, Briere, Lauren C., Liu, Fang, Wessels, Marja W., Wang, Xueqi, Osmond, Matthew, Kanca, Oguz, Lu, Shenzhao, High, Frances A., Walker, Melissa A., Rodan, Lance H., Wangler, Michael F., Yamamoto, Shinya, Kernohan, Kristin D., Sweetser, David A., Boycott, Kym M., Bellen, Hugo J.

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Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disabi... von Kernohan, Kristin D, Tétreault, Martine, Liwak-Muir, Urszula, Geraghty, Michael T, Qin, Wen, Venkateswaran, Sunita, Davila, Jorge, Holcik, Martin, Majewski, Jacek, Richer, Julie, Boycott, Kym M

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The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability von Huang, Yan, Lemire, Gabrielle, Briere, Lauren C., Liu, Fang, Wessels, Marja W., Wang, Xueqi, Osmond, Matthew, Kanca, Oguz, Lu, Shenzhao, High, Frances A., Walker, Melissa A., Rodan, Lance H., Wangler, Michael F., Yamamoto, Shinya, Kernohan, Kristin D., Sweetser, David A., Boycott, Kym M., Bellen, Hugo J.

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Integrated omics analyses clarifies ATRX copy number variant of uncertain significance von Marshall, Aren E, Liang, Yijing, Couse, Madeline, McConkey, Haley, Sadikovic, Bekim, Boycott, Kym M, Dyment, David A, Kernohan, Kristin D

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p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy von Kernohan, Kristin D., McBride, Arran, Hartley, Taila, Rojas, Samantha K., Dyment, David A., Boycott, Kym M., Dyack, Sarah

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Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year von Kernohan, Kristin D., McMillan, Hugh J., Yeh, Ed, Lacaria, Melanie, Kowalski, Michael, Campbell, Craig, Dowling, James J., Gonorazky, Hernan, Marcadier, Janet, Tarnopolsky, Mark A., Vajsar, Jiri, Mackenzie, Alex, Chakraborty, Pranesh

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Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery von Driver, Hannah G., Hartley, Taila, Price, E. Magda, Turinsky, Andrei L., Buske, Orion J., Osmond, Matthew, Ramani, Arun K., Kirby, Emily, Kernohan, Kristin D., Couse, Madeline, Elrick, Hillary, Lu, Kevin, Mashouri, Pouria, Mohan, Aarthi, So, Delvin, Klamann, Conor, Le, Hannah G. B. H., Herscovich, Andrea, Marshall, Christian R., Statia, Andrew, Canada Consortium, Care4Rare, Knoppers, Bartha M., Brudno, Michael, Boycott, Kym M.

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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia von 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

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Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit von Kernohan, Kristin D., Hartley, Taila, Naumenko, Sergey, Armour, Christine M., Graham, Gail E., Nikkel, Sarah M., Lines, Matthew, Geraghty, Michael T., Richer, Julie, Mears, Wendy, Boycott, Kym M., Dyment, David A.

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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospectiv... von Hartley, Taila, Marshall, Deborah, Acker, Meryl, Fooks, Katharine, Gillespie, Meredith K., Price, E. Magda, Graham, Ian D., White-Brown, Alexandre, MacKay, Layla, Macdonald, Stella K., Brady, Lauren, Hui, Angela Y., Andrews, Joseph D., Chowdhury, Ashfia, Wall, Erika, Soubry, Élisabeth, Ediae, Grace U., Rojas, Samantha, Assamad, Daniel, Dyment, David, Tarnopolsky, Mark, Sawyer, Sarah L., Chisholm, Caitlin, Lemire, Gabrielle, Amburgey, Kimberly, Lazier, Joanna, Mendoza-Londono, Roberto, Dowling, James J., Balci, Tugce B., Armour, Christine M., Bhola, Priya T., Costain, Gregory, Dupuis, Lucie, Carter, Melissa, Badalato, Lauren, Richer, Julie, Boswell-Patterson, Christie, Kannu, Peter, Cordeiro, Dawn, Warman-Chardon, Jodi, Graham, Gail, Siu, Victoria Mok, Cytrynbaum, Cheryl, Rusnak, Alison, Aul, Ritu B., Yoon, Grace, Gonorazky, Hernan, McNiven, Vanda, Mercimek-Andrews, Saadet, Guerin, Andrea, Deshwar, Ashish R., Marwaha, Ashish, Weksberg, Rosanna, Karp, Natalya, Campbell, Maggie, Al-Qattan, Sarah, Shuen, Andrew Y., Inbar-Feigenberg, Michal, Cohn, Ronald, Szuto, Anna, Inglese, Cara, Poirier, Myriam, Chad, Lauren, Potter, Beth, Boycott, Kym M., Hayeems, Robin, Boycott, Kym, Brudno, Michael, Bernier, Francois, van Karnebeek, Clara, Dyment, David, Kernohan, Kristin, Innes, Micheil, Lamont, Ryan, Parboosingh, Jillian, Marshall, Deborah, Marshall, Christian, Mendoza, Roberto, Dowling, James, Hayeems, Robin, Knoppers, Bartha, Lehman, Anna, Mostafavi, Sara

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