Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Andrea K. Vaags"'
Autor:
Daria Grafodatskaya, Darren D O’Rielly, Karine Bedard, Darci T Butcher, Christopher J Howlett, Alice Lytwyn, Elizabeth McCready, Jillian Parboosingh, Elizabeth L Spriggs, Andrea K Vaags, Tracy L Stockley
Publikováno v:
Journal of Medical Genetics. 59:727-736
The purpose of this document is to provide pre-analytical, analytical and post-analytical considerations and recommendations to Canadian clinical laboratories developing, validating and offering next-generation sequencing (NGS)-based BRCA1 and BRCA2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4effa5eb308ccc261e3ac0cc59cb6a5c
https://doi.org/10.1136/jmedgenet-2021-108238
https://doi.org/10.1136/jmedgenet-2021-108238
Autor:
Kathleen Anne Bell, Raymond Kim, Melyssa Aronson, Brittany Gillies, Arif Ali Awan, Kathy Chun, Jennifer Hart, Rachel Healey, Linda Kim, Goran Klaric, Karen Panabaker, Peter J B Sabatini, Bekim Sadikovic, Shamini Selvarajah, Amanda C Smith, Tracy L Stockley, Andrea K Vaags, Andrea Eisen, Aaron Pollett, Harriet Feilotter
Publikováno v:
Journal of medical genetics.
BackgroundGenetic testing for hereditary cancer susceptibility has advanced over time due to the discovery of new risk genes, improved technology and decreased cost. In the province of Ontario, testing eligibility criteria were initially developed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8184f8bbffd7499315a996a0936db0c3
https://pubmed.ncbi.nlm.nih.gov/36564171
https://pubmed.ncbi.nlm.nih.gov/36564171
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e79c0e1de128d207d5bd72db07f48359
https://doi.org/10.1136/jmedgenet-2021-107738
https://doi.org/10.1136/jmedgenet-2021-107738
Autor:
Barry D. Kyle, Vilte E. Barakauskas, Michelle L. Parker, Benjamin Jung, Shamini Selvarajah, Marsha Speevak, Mari L. DeMarco, Tanya N. Nelson, Mathew P. Estey, Brian M. Gilfix, Terence A. Agbor, Andrea K. Vaags, Andre Mattman, Sharon Xuehui Chen
Publikováno v:
Clinical Biochemistry. 81:27-33
Laboratory confirmation of alpha-1-antitrypsin (A1AT) deficiency may be achieved by multiple methods. Here, we compare the relative comprehensiveness and efficiency of pathogenic variant (PV) detection of four different protocols utilized at differen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd242a3786bc1d3f29486a1fc04131a6
https://doi.org/10.1016/j.clinbiochem.2020.05.001
https://doi.org/10.1016/j.clinbiochem.2020.05.001
Autor:
Daria, Grafodatskaya, Darren D, O'Rielly, Karine, Bedard, Darci T, Butcher, Christopher J, Howlett, Alice, Lytwyn, Elizabeth, McCready, Jillian, Parboosingh, Elizabeth L, Spriggs, Andrea K, Vaags, Tracy L, Stockley
Publikováno v:
Journal of medical genetics. 59(8)
The purpose of this document is to provide pre-analytical, analytical and post-analytical considerations and recommendations to Canadian clinical laboratories developing, validating and offering next-generation sequencing (NGS)-based
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::003c88c9c30562d130efda6f7910b20f
https://pubmed.ncbi.nlm.nih.gov/35393334
https://pubmed.ncbi.nlm.nih.gov/35393334
Autor:
Wenda L. Greer, Normand Blais, Danh Tran-Thanh, Rami Nassabein, Tracy Stockley, Tara Spence, Martin Butcher, R. Walton, Stephanie Santos, Xiao Zhang, Doug Demetrick, Shamini Selvarajah, Bryan Lo, Bekim Sadikovic, Marsha Speevak, Sophie Plante, Andrea K. Vaags, Elizabeth McCready, Darren Hamelinck, Tong Zhang, Daria Grafodatskaya, Philippe Joubert, Harriet Feilotter, Xiaoduan Weng
Publikováno v:
JTO Clinical and Research Reports, Vol 2, Iss 8, Pp 100212-(2021)
Paediatrics Publications
Paediatrics Publications
Introduction Genotyping circulating tumor DNA (ctDNA) is a promising noninvasive clinical tool to identify the EGFR T790M resistance mutation in patients with advanced NSCLC with resistance to EGFR inhibitors. To facilitate standardization and clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a822a1f06d5c0b5f9e1183019fb983b
http://www.sciencedirect.com/science/article/pii/S2666364321000710
http://www.sciencedirect.com/science/article/pii/S2666364321000710
Autor:
Konstantin Krutikov, Yanzhen Zheng, Alden Chesney, Xiaoyong Huang, Andrea K Vaags, Valentina Evdokimova, Margaret R Hough, Edwin Chen
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e89649 (2014)
The noncluster homeobox gene HOX11/TLX1 (TLX1) is detected at the breakpoint of the t(10;14)(q24;q11) chromosome translocation in patients with T cell acute lymphoblastic leukemia (T-ALL). This translocation results in the inappropriate expression of
Externí odkaz:
https://doaj.org/article/d4093994f8354e139ac437ecf8a0a81d
Publikováno v:
Gynecologic Oncology. 162:S197-S198
Objectives: Recommendation for referral of patients with upper Mullerian tract High Grade Serous Carcinoma (HGSC) for genetic counseling and germline BRCA1/2 mutation testing has existed for over a decade. In Nov 2018, tumor (somatic) BRCA1/2 mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e8a145f537c35df7f4acb7cf386910f
https://doi.org/10.1016/s0090-8258(21)01025-8
https://doi.org/10.1016/s0090-8258(21)01025-8
Autor:
Normand Blais, Tracy Stockley, Philippe Joubert, Harriet Feilotter, D. Demetrick, Danh Tran-Thanh, Elizabeth McCready, S. Selvarajah, R. Walton, Marsha Speevak, Bryan Lo, W. Greer, Bekim Sadikovic, Daria Grafodatskaya, Sophie Plante, Andrea K Vaags
Publikováno v:
Journal of Thoracic Oncology. 16:S206-S207
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::026346b2947ee5f29d531c1e04079af2
https://doi.org/10.1016/j.jtho.2021.01.108
https://doi.org/10.1016/j.jtho.2021.01.108
Autor:
Lisa J. Strug, Hannele Koillinen, Caroline Mackie Ogilvie, David A. Collier, Vincenzo Leuzzi, Zeynep Tümer, Joo Wook Ahn, Laura Addis, Deb K. Pal, Andrea K. Vaags, Hilary Coon, Richard Dobson, bruno lenne, Stephen W. Scherer, Pauline Chaste, Dalila Pinto, Scott Wilson, Christian R. Marshall, Jeremy R. Parr, Sarah Curran, Abhishek Dixit, Joris Andrieux, Kristina Aubell
Publikováno v:
Human Mutation. 36:842-850
Copy-number variations (CNVs) are important in the aetiology of neurodevelopmental disorders and show broad phenotypic manifestations. We compared the presence of small CNVs disrupting the ELP4-PAX6 locus in 4,092 UK individuals with a range of neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a269f14a31d9017992f1afcaa6ddcd30
https://doi.org/10.1002/humu.22816
https://doi.org/10.1002/humu.22816