Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Stacey Hume"'
Autor:
Beatriz Carvalho Henriques, Avery Buchner, Xiuying Hu, Yabing Wang, Vasyl Yavorskyy, Keanna Wallace, Rachael Dong, Kristina Martens, Michael S. Carr, Bahareh Behroozi Asl, Joshua Hague, Sudhakar Sivapalan, Wolfgang Maier, Mojca Z. Dernovsek, Neven Henigsberg, Joanna Hauser, Daniel Souery, Annamaria Cattaneo, Ole Mors, Marcella Rietschel, Gerald Pfeffer, Stacey Hume, Katherine J. Aitchison
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Many antidepressants, atomoxetine, and several antipsychotics are metabolized by the cytochrome P450 enzymes CYP2D6 and CYP2C19, and guidelines for prescribers based on genetic variants exist. Although some laboratories offer such testing, t
Externí odkaz:
https://doaj.org/article/16d854a36fa943aab4f32e69d4f3a396
Autor:
Farshad Niri, Jessie Nicholls, Kelly Baptista Wyatt, Christine Walker, Tiffany Price, Rhonda Kelln, Stacey Hume, Jillian Parboosingh, Margaret Lilley, Hanna Kolski, Ross Ridsdale, Andrew Muranyi, Jean K. Mah, Dennis E. Bulman
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 3, p 42 (2023)
Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of the survival motor neuron 1 (SMN1) gene. Early diagnosis via newborn screening (NBS) and pre-symptomatic treatment are e
Externí odkaz:
https://doaj.org/article/97e95b2ed9bf43259e70a2f9d8551649
Autor:
Beatriz Carvalho Henriques, Avery Buchner, Xiuying Hu, Yabing Wang, Vasyl Yavorskyy, Keanna Wallace, Rachael Dong, Kristina Martens, Michael S. Carr, Bahareh Behroozi Asl, Joshua Hague, Sudhakar Sivapalan, Wolfgang Maier, Mojca Z. Dernovsek, Neven Henigsberg, Joanna Hauser, Daniel Souery, Annamaria Cattaneo, Ole Mors, Marcella Rietschel, Gerald Pfeffer, Stacey Hume, Katherine J. Aitchison
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/a556860718d54d89b0437b184050708a
Autor:
Andy De Souza, Vanessa Wolan, Angie Battochio, Susan Christian, Stacey Hume, Grace Johner, Margaret Lilley, Ross Ridsdale, Kareena Schnabl, Chi Tran, Jolene Yuen-Jung, Iveta Sosova
Publikováno v:
International Journal of Neonatal Screening, Vol 5, Iss 4, p 37 (2019)
Newborn screening (NBS) in Alberta is delivered by a number of government and health service entities who work together to provide newborn screening to infants born in Alberta, the Northwest Territories, and the Kitikmeot region of the Nunavut territ
Externí odkaz:
https://doaj.org/article/67bb314f8b9948b19a457c63e41d3757
Autor:
Michelle M. Axford, Ron Agatep, Marcos Clavier, Stacey Hume, Elizabeth Spriggs, Andrea K Vaags, George S. Charames, Harriet Feilotter, Nicholas A. Watkins, Amanda C. Smith, Tracy Tucker, Matthew S. Lebo, Vanessa Di Gioacchino, Jordan Lerner-Ellis, Ian Bosdet, Mohammad R. Akbari, William D. Foulkes, Chloe Mighton, Sean S. Young, Lorena Lazo de la Vega, Talia Silver, Ryan E. Lamont, Laura Semenuk, Robert Tomaszewski, Christian R. Marshall, Nancy Hamel, Justin Mayers, Henry K. Wong, Jillian S. Parboosingh, Marsha Speevak, Aly Karsan, George Chong, Sherryl Taylor
Publikováno v:
J Med Genet
BackgroundThis study aimed to identify and resolve discordant variant interpretations across clinical molecular genetic laboratories through the Canadian Open Genetics Repository (COGR), an online collaborative effort for variant sharing and interpre
Autor:
Roman J. McDonald, Hanen Alfuhaid, Marina Kerr, Aneal Khan, Dustin S. Hittel, Xing-Chang Wei, Suhaib Aman, Desmond Koo, Rebecca Sparkes, Maida Khan, Heather Barnes, Liam McDonald, Stacey Hume, Christopher Newell, Fadya Omar
Publikováno v:
Molecular Genetics and Metabolism. 131:66-82
Mitochondrial diseases, due to nuclear or mitochondrial genome mutations causing mitochondrial dysfunction, have a wide range of clinical features involving neurologic, muscular, cardiac, hepatic, visual, and auditory symptoms. Making a diagnosis of
Autor:
Kristina Martens, Vasyl Yavorskyy, Ole Mors, Joshua Hague, Wolfgang Maier, Daniel Souery, Neven Henigsberg, Gerald Pfeffer, Rachael Dong, Annamaria Cattaneo, Joanna Hauser, Marcella Rietschel, Keanna Wallace, Avery Buchner, Stacey Hume, Michael Carr, Yabing Wang, Bahareh Behroozi Asl, Mojca Z. Dernovsek, Sudhakar Sivapalan, Katherine J. Aitchison, Beatriz Carvalho Henriques, Xiuying Hu
Publikováno v:
Translational Psychiatry
Carvalho Henriques, B, Buchner, A, Hu, X, Wang, Y, Yavorskyy, V, Wallace, K, Dong, R, Martens, K, Carr, M S, Behroozi Asl, B, Hague, J, Sivapalan, S, Maier, W, Dernovsek, M Z, Henigsberg, N, Hauser, J, Souery, D, Cattaneo, A, Mors, O, Rietschel, M, Pfeffer, G, Hume, S & Aitchison, K J 2021, ' Methodology for clinical genotyping of CYP2D6 and CYP2C19 ', Translational Psychiatry, vol. 11, no. 1, 596 . https://doi.org/10.1038/s41398-021-01717-9
Translational Psychiatry, Vol 11, Iss 1, Pp 1-9 (2021)
Carvalho Henriques, B, Buchner, A, Hu, X, Wang, Y, Yavorskyy, V, Wallace, K, Dong, R, Martens, K, Carr, M S, Behroozi Asl, B, Hague, J, Sivapalan, S, Maier, W, Dernovsek, M Z, Henigsberg, N, Hauser, J, Souery, D, Cattaneo, A, Mors, O, Rietschel, M, Pfeffer, G, Hume, S & Aitchison, K J 2021, ' Methodology for clinical genotyping of CYP2D6 and CYP2C19 ', Translational Psychiatry, vol. 11, no. 1, 596 . https://doi.org/10.1038/s41398-021-01717-9
Translational Psychiatry, Vol 11, Iss 1, Pp 1-9 (2021)
Many antidepressants, atomoxetine, and several antipsychotics are metabolized by the cytochrome P450 enzymes CYP2D6 and CYP2C19, and guidelines for prescribers based on genetic variants exist. Although some laboratories offer such testing, there is n
Autor:
Stacey Hume, Dennis E Bulman, Mathew Diggle, Vincent Li, Robert Tomaszewski, Sherry Taylor, Rhonda Kelln, Graham Tipples, Kanti Pabbaraju, Christine Walker, Deena Hinshaw, Jamil N. Kanji, Matthew A. Croxen, Shelagh Haase, Nathan Zelyas
Publikováno v:
J Assoc Med Microbiol Infect Dis Can
The first case of coronavirus disease 2019 (COVID-19) in Alberta, Canada, was confirmed on March 5, 2020. Because the virus testing criteria had changed significantly over this time period, we wanted to ascertain whether previous cases of COVID-19 ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed8c572550049c6e2c94d7d07bf6de06
https://europepmc.org/articles/PMC9612433/
https://europepmc.org/articles/PMC9612433/
Autor:
Elizabeth McCready, Jillian S. Parboosingh, Marsha Speevak, Ron Agatep, Stacey Hume, Tracy Stockley, Sherryl Taylor, Tanya N. Nelson, Dimitri J. Stavropoulos, Harriet Feilotter
Publikováno v:
Journal of Medical Genetics
PurposeThe purpose of this document is to provide guidance for the use of next-generation sequencing (NGS, also known as massively parallel sequencing or MPS) in Canadian clinical genetic laboratories for detection of genetic variants in genomic DNA
Publikováno v:
Molecular Genetics and Metabolism. 125:332-337
Background Mitochondrial diseases are a clinically heterogeneous group of diseases caused by mutations in either nuclear or mitochondrial DNA (mtDNA). The diagnosis is challenging and has frequently required a tissue biopsy to obtain a sufficient qua