Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Stacy, Hewson"'
Autor:
Trevor Jamieson, Kevin Thorpe, Francois Bernier, Melyssa Aronson, Marc Clausen, Rita Kodida, Emma Reble, June C Carroll, Jordan Lerner-Ellis, Yvonne Bombard, Matthew Osmond, Muhammad Mamdani, Ronald Cohn, Emily Seto, Hanna Faghfoury, Josh Silver, Maureen Smith, Lauren Chad, Jan M Friedman, Robin Z Hayeems, Michael Brudno, Gregory Costain, Quynh Pham, Anne-Marie Laberge, Christian Marshall, Cheryl Shuman, Rebekah Jobling, Irfan Dhalla, Serena Shastri-Estrada, Daniel Assamad, Stephanie Luca, Stacy Hewson, Eriskay Liston, Frank Rudzicz, Wendy Ungar, Guylaine D'Amours
Publikováno v:
BMJ Open, Vol 14, Iss 9 (2024)
Introduction Genetic testing is used across medical disciplines leading to unprecedented demand for genetic services. This has resulted in excessive waitlists and unsustainable pressure on the standard model of genetic healthcare. Alternative models
Externí odkaz:
https://doaj.org/article/8affa2793f8c4b6b9384324d8a29b5cd
Autor:
Maria Al Bandari, Laura Nagy, Vivian Cruz, Stacy Hewson, Alomgir Hossain, Michal Inbar-Feigenberg
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 2, p 29 (2024)
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare genetic condition affecting the mitochondrial beta-oxidation of long-chain fatty acids. This study reports on the clinical outcomes of patients diagnosed by newborn screening with VL
Externí odkaz:
https://doaj.org/article/1a262141ea4b4bc3a477e5045742b25c
Autor:
Landry Nfonsam, Lijia Huang, Nancy Carson, Jean McGowan‐Jordan, Melanie Beaulieu Bergeron, Sharan Goobie, Susan Conacher, David McCarty, Lee Benson, Stacy Hewson, Laura Zahavich, Elizabeth Sinclair‐Bourque, Amanda Smith, Ryan Potter, Mahdi Ghani, Lucas Bronicki, Olga Jarinova
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Abstract Background Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy (LVH) in the absence of predisposing cardiovascular conditions. Pathogenic variants in at least 16 cardiac sarcomeric genes have been implicated in
Externí odkaz:
https://doaj.org/article/7ffcffe8d1414239a7dc0d9166a761cd
Autor:
Tran, Christel, Patel, Jaina, Stacy, Hewson, Mamak, Eva G., Faghfoury, Hanna, Raiman, Julian, Clarke, Joe T.R., Blaser, Susan, Mercimek-Mahmutoglu, Saadet
Publikováno v:
In European Journal of Paediatric Neurology July 2017 21(4):600-609
Autor:
Neal Sondheimer, Stacy Hewson, Jessie M. Cameron, Gino R. Somers, Jane Dunning Broadbent, Marcello Ziosi, Catarina Maria Quinzii, Ali B. Naini
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 23-27 (2017)
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 oxidative phosphorylation. Defects in CoQ10 synthesis are usually associated with the impaired
Externí odkaz:
https://doaj.org/article/753e2cc8a6654c369b7d2bc8b9a8c4b8
Autor:
Megan A. Dickson, Laura Zahavich, Janet Rush, Stacy Hewson, David Chitayat, Brian W. McCrindle, Nita Chahal
Publikováno v:
CJC Pediatric and Congenital Heart Disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e2b5809c3fef2859656b8e3a7ecbedcd
https://doi.org/10.1016/j.cjcpc.2023.05.006
https://doi.org/10.1016/j.cjcpc.2023.05.006
Autor:
Rachel Youjin Oh, Ashish R. Deshwar, Ashish Marwaha, Nesrin Sabha, Michael Tropak, Huayun Hou, Kyoko E. Yuki, Michael D. Wilson, Patrick Rump, Roelineke Lunsing, Noha Elserafy, Clara W.T. Chung, Stacy Hewson, Tanja Klein-Rodewald, Julia Calzada-Wack, Adrián Sanz-Moreno, Markus Kraiger, Susan Marschall, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabe de Angelis, James Dowling, Andreas Schulze
Publikováno v:
Genetics in Medicine, 24(11), 2399-2407. Nature Publishing Group
Purpose: RABGAP1 is a GTPase-activating protein implicated in a variety of cellular and molecular processes, including mitosis, cell migration, vesicular trafficking, and mTOR signaling. There are no known Mendelian diseases caused by variants in RAB
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4006eadaa5c88a463f9e36bd8a9187cc
https://research.rug.nl/en/publications/3c1f6599-bd56-4fb8-8ccc-d7740838bfa8
https://research.rug.nl/en/publications/3c1f6599-bd56-4fb8-8ccc-d7740838bfa8
Autor:
Tuyen Tran, Andrei Constantinescu, Minal Jain, Courtney Hum, Nicole Sultanum, James J. Dowling, Casie A. Genetti, Carsten G. Bönnemann, Oscar H. Meyer, Mamadou Diallo, Jahannaz Dastgir, Michael W. Lawlor, Meryl Acker, Michael Brudno, Alan H. Beggs, Leslie Nelson, Michael Glueck, Kimberly Amburgey, Faiza Syed, Samia Saeed, Stacy Hewson, C.H. Wang, Reshma Amin
Publikováno v:
Neurology
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveNemaline myopathy (NM) is a rare neuromuscular condition with clinical and genetic heterogeneity. To establish disease natural history, we performed a cross-sectional study of NM, complemented by longitudinal assessment and exploration of pi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98e6ceea243b67338c04a07c5ef0ed1b
https://doi.org/10.1212/wnl.0000000000011458
https://doi.org/10.1212/wnl.0000000000011458
Autor:
Zhuo, Shao, Ikuo, Masuho, Anupreet, Tumber, Jason T, Maynes, Erika, Tavares, Asim, Ali, Stacy, Hewson, Andreas, Schulze, Peter, Kannu, Kirill A, Martemyanov, Ajoy, Vincent
Publikováno v:
Genes
Identifying multiple ultra-rare genetic syndromes with overlapping phenotypes is a diagnostic conundrum in clinical genetics. This study investigated the pathogenicity of a homozygous missense variant in GNB5 (GNB5L; NM_016194.4: c.920T > G (p. Leu30
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5b832aa0a971aa24616b4b49c266ad9e
https://pubmed.ncbi.nlm.nih.gov/34573334
https://pubmed.ncbi.nlm.nih.gov/34573334
Autor:
Robin Z. Hayeems, Stephanie Luca, Wendy J. Ungar, Viji Venkataramanan, Kate Tsiplova, Naazish S. Bashir, Gregory Costain, Cara Inglese, Vanda McNiven, Nada Quercia, Andrea Shugar, Grace Yoon, Cheryl Cytrynbaum, Lucie Dupuis, Zhuo Shao, Stacy Hewson, Cheryl Shuman, Ritu Aul, Eriskay Liston, Riyana Babul-Hirji, Alexandra Bushby, Eleanor Pullenayegum, Lauren Chad, M. Stephen Meyn
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(2)
Demonstrating the clinical utility of genetic testing is fundamental to clinical adoption and reimbursement, but standardized definitions and measurement strategies for this construct do not exist. The Clinician-reported Genetic testing Utility InDEx
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::668944ca85d1d8bd70aa756eb4496537
https://pubmed.ncbi.nlm.nih.gov/34906486
https://pubmed.ncbi.nlm.nih.gov/34906486