Search Results - "Stacy, Hewson"

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood by Mercimek‐Mahmutoglu, Saadet, Patel, Jaina, Cordeiro, Dawn, Hewson, Stacy, Callen, David, Donner, Elizabeth J., Hahn, Cecil D., Kannu, Peter, Kobayashi, Jeff, Minassian, Berge A., Moharir, Mahendranath, Siriwardena, Komudi, Weiss, Shelly K., Weksberg, Rosanna, Snead, O. Carter

“…Summary Objective Epilepsy is a common neurologic disorder of childhood. To determine the genetic diagnostic yield in epileptic encephalopathy, we performed a…”
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Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review by Al Bandari, Maria, Nagy, Laura, Cruz, Vivian, Hewson, Stacy, Hossain, Alomgir, Inbar-Feigenberg, Michal

“…Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare genetic condition affecting the mitochondrial beta-oxidation of long-chain fatty acids…”
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A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy by Ni, Min, Afroze, Bushra, Xing, Chao, Pan, Chunxiao, Shao, Yanqiu, Cai, Ling, Cantarel, Brandi L., Pei, Jimin, Grishin, Nick V., Hewson, Stacy, Knight, Devon, Mahida, Sonal, Michel, Donnice, Tarnopolsky, Mark, Poduri, Annapurna, Rotenberg, Alexander, Sondheimer, Neal, DeBerardinis, Ralph J.

“…Purpose Neurodevelopmental disabilities are common and genetically heterogeneous. We identified a homozygous variant in the gene encoding UFM1-specific…”
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Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations by D'Amours, Guylaine, Clausen, Marc, Luca, Stephanie, Reble, Emma, Kodida, Rita, Assamad, Daniel, Bernier, Francois, Chad, Lauren, Costain, Gregory, Dhalla, Irfan, Faghfoury, Hanna, Friedman, Jan M, Hewson, Stacy, Jamieson, Trevor, Silver, Josh, Shuman, Cheryl, Osmond, Matthew, Carroll, June C, Jobling, Rebekah, Laberge, Anne-Marie, Aronson, Melyssa, Liston, Eriskay, Lerner-Ellis, Jordan, Marshall, Christian, Brudno, Michael, Pham, Quynh, Rudzicz, Frank, Cohn, Ronald, Mamdani, Muhammad, Smith, Maureen, Shastri-Estrada, Serena, Seto, Emily, Thorpe, Kevin, Ungar, Wendy, Hayeems, Robin Z, Bombard, Yvonne

“…IntroductionGenetic testing is used across medical disciplines leading to unprecedented demand for genetic services. This has resulted in excessive waitlists…”
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Targeted Inactivation of Npt2 in Mice Leads to Severe Renal Phosphate Wasting, Hypercalciuria, and Skeletal Abnormalities by Beck, Laurent, Karaplis, Andrew C., Amizuka, Norio, Hewson, A. Stacy, Ozawa, Hidehiro, Tenenhouse, Harriet S.

“…Npt2 encodes a renal-specific, brush-border membrane Na+-phosphate (Pi) cotransporter that is expressed in the proximal tubule where the bulk of filtered Piis…”
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Late-Onset Zellweger Spectrum Disorder Caused by PEX6 Mutations Mimicking X-Linked Adrenoleukodystrophy by Tran, Christel, MD, Hewson, Stacy, MSc, Steinberg, Steven J., PhD, Mercimek-Mahmutoglu, Saadet, MD, PhD

“…Abstract Background Zellweger spectrum disorder is an autosomal recessively inherited multisystem disorder caused by one of the 13 different PEX gene defects…”
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Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency by Sondheimer, Neal, Hewson, Stacy, Cameron, Jessie M., Somers, Gino R., Broadbent, Jane Dunning, Ziosi, Marcello, Quinzii, Catarina Maria, Naini, Ali B.

“…Coenzyme Q10 (CoQ10) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of…”
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ALU transposition induces familial hypertrophic cardiomyopathy by Nfonsam, Landry, Huang, Lijia, Carson, Nancy, McGowan‐Jordan, Jean, Beaulieu Bergeron, Melanie, Goobie, Sharan, Conacher, Susan, McCarty, David, Benson, Lee, Hewson, Stacy, Zahavich, Laura, Sinclair‐Bourque, Elizabeth, Smith, Amanda, Potter, Ryan, Ghani, Mahdi, Bronicki, Lucas, Jarinova, Olga

“…Background Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy (LVH) in the absence of predisposing cardiovascular conditions…”
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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test by Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R

“…Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard of care is often a time-consuming stepwise approach involving…”
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The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada by Roscher, Anne, Patel, Jaina, Hewson, Stacy, Nagy, Laura, Feigenbaum, Annette, Kronick, Jonathan, Raiman, Julian, Schulze, Andreas, Siriwardena, Komudi, Mercimek-Mahmutoglu, Saadet

“…Glycogen storage disease (GSD) types VI and IX are caused by phosphorylase system deficiencies. To evaluate the natural history and long-term treatment outcome…”
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Variable expressivity of a likely pathogenic variant in KCNQ2 in a three‐generation pedigree presenting with intellectual disability with childhood onset seizures by Hewson, Stacy, Puka, Klajdi, Mercimek‐Mahmutoglu, Saadet

“…KCNQ2 has been reported as a frequent cause of autosomal dominant benign familial neonatal seizures. De novo likely pathogenic variants in KCNQ2 have been…”
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Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing by Costain, Gregory, Jobling, Rebekah, Walker, Susan, Reuter, Miriam S, Snell, Meaghan, Bowdin, Sarah, Cohn, Ronald D, Dupuis, Lucie, Hewson, Stacy, Mercimek-Andrews, Saadet, Shuman, Cheryl, Sondheimer, Neal, Weksberg, Rosanna, Yoon, Grace, Meyn, M Stephen, Stavropoulos, Dimitri J, Scherer, Stephen W, Mendoza-Londono, Roberto, Marshall, Christian R

“…Whole-genome sequencing (WGS) as a first-tier diagnostic test could transform medical genetic assessments, but there are limited data regarding its clinical…”
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A multidisciplinary approach to the transition of adolescents with a lysosomal disorder from a pediatric to an adult health care centre by Hewson, Stacy, Mackrell, Margaret, Mecija, Michelle, Inbar-Feigenberg, Michal

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Bone marrow transplantation treatment for a 4 year old asymptomatic patient with metachromatic leukodystrophy (MLD) by Inbar-Feigenberg, Michal, Hewson, Stacy, Raiman, Julian

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Bone marrow transplantation treatment for a 4year old asymptomatic patient with metachromatic leukodystrophy (MLD) by Inbar-Feigenberg, Michal, Hewson, Stacy, Raiman, Julian

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A Cross-Sectional Study of Nemaline Myopathy by Amburgey, Kimberly, Acker, Meryl, Saeed, Samia, Amin, Reshma, Beggs, Alan H., Bönnemann, Carsten G., Brudno, Michael, Constantinescu, Andrei, Dastgir, Jahannaz, Diallo, Mamadou, Genetti, Casie A., Glueck, Michael, Hewson, Stacy, Hum, Courtney, Jain, Minal S., Lawlor, Michael W., Meyer, Oscar H., Nelson, Leslie, Sultanum, Nicole, Syed, Faiza, Tran, Tuyen, Wang, Ching H., Dowling, James J.

“…Nemaline myopathy (NM) is a rare neuromuscular condition with clinical and genetic heterogeneity. To establish disease natural history, we performed a…”
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Patient-facing digital tools for delivering genetic services: a systematic review by Whiwon, Lee, Salma, Shickh, Daniel, Assamad, Stephanie, Luca, Marc, Clausen, Cherith, Somerville, Abby, Tafler, Angela, Shaw, Robin, Hayeems, Yvonne, Bombard

“…This study systematically reviewed the literature on the impact of digital genetics tools on patient care and system efficiencies. MEDLINE and Embase were…”
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25 Genomic medicine in paediatric care for neurodevelopmental disorders: An assessment of practices, attitudes and education needs of Ontario paediatricians by Szuto, Anna, Dickson, Megan, Baribeau, Danielle, Carroll, June C, Carter, Melissa T, Chad, Lauren, Costain, Gregory, Hewson, Stacy, Peltekova, Iskra T

“…Abstract Background Non-geneticist healthcare professionals are increasingly responsible for delivering genetics-informed care to individuals and their…”
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Abdominal pain and mucosal hyperplasia of the gallbladder leading to a diagnosis of metachromatic leukodystrophy (MLD) by Hewson, Stacy, Taylor, Glenn, Raiman, Julian

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Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants by Allen, James P, Garber, Kathryn B, Perszyk, Riley, Khayat, Cara T, Kell, Steven A, Kaneko, Maki, Quindipan, Catherine, Saitta, Sulagna, Ladda, Roger L, Hewson, Stacy, Inbar-Feigenberg, Michal, Prasad, Chitra, Prasad, Asuri N, Olewiler, Leah, Mu, Weiyi, Rosenthal, Liana S, Scala, Marcello, Striano, Pasquale, Zara, Federico, McCullock, Tyler W, Jauss, Robin-Tobias, Lemke, Johannes R, MacLean, David M, Zhu, Cheng, Yuan, Hongjie, Myers, Scott J, Traynelis, Stephen F

“…Abstract GRID1 and GRID2 encode the enigmatic GluD1 and GluD2 proteins, which form tetrameric receptors that play important roles in synapse organization and…”
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