Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Ron Agatep"'
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:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::820ad7d410afd16c605080d211454a64
https://doi.org/10.1136/jmedgenet-2019-106152
https://doi.org/10.1136/jmedgenet-2019-106152
Publikováno v:
Cancer Genetics. 244:7-8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd5cd6ef79186e450c45d10a5ccd0603
https://doi.org/10.1016/j.cancergen.2020.04.023
https://doi.org/10.1016/j.cancergen.2020.04.023
Autor:
Joanna Lazier, Julie Richer, Elaine Goh, Andrea Guerin, Ron Agatep, Karen Y Niederhoffer, Tanya N. Nelson, Sharan Goobie, Victoria Mok Siu
Publikováno v:
Paediatrics Publications
Choosing Wisely Canada aims to reduce patient harm by promoting discussion and awareness of unnecessary tests, procedures and treatments. Organised by Canadian physicians and the Canadian Medical Association,1 it is modelled after the American Choosi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67ae876df24557ef7ae73c9c86ca7855
https://ir.lib.uwo.ca/paedpub/288
https://ir.lib.uwo.ca/paedpub/288
Autor:
Matthew S. Lebo, Kathleen-Rose Zakoor, Kathy Chun, Marsha D. Speevak, John S. Waye, Elizabeth McCready, Jillian S. Parboosingh, Ryan E. Lamont, Harriet Feilotter, Ian Bosdet, Tracy Tucker, Sean Young, Aly Karsan, George S. Charames, Ronald Agatep, Elizabeth L. Spriggs, Caitlin Chisholm, Nasim Vasli, Hussein Daoud, Olga Jarinova, Robert Tomaszewski, Stacey Hume, Sherryl Taylor, Mohammad R. Akbari, Jordan Lerner-Ellis, Ron Agatep, Peter Ainsworth, Melyssa Aronson, Raveen Basran, Andre Blavier, Andrea Blumenthal, Kym Boycott, Michael Brudno, Kathleen Buckley, Jodi Campbell, Philippe M. Campeau, Melanie Care, Nancy Carson, Ronald Carter, George Charames, David Chitayat, George Chong, Edmond Chouinard, Kenneth J. Craddock, Rod Docking, Andrea Eisen, Hanna Faghfoury, Sandra Farrell, Bridget Fernandez, Marc Fiume, Cynthia Forster-Gibson, Jan Friedman, William Foulkes, Peter Goodhand, Jessica Gu, Robert Hegele, Spring Holter, Sheri Horsburgh, Lauren Hughes, Franny Jewett, Anne Junker, Sam Khalouei, Joan Knoll, Elena Kolomeitz, Bartha Knoppers, Ryan Lamont, Matthew Lebo, Georges Maire, Christian Marshall, Grant Mitchell, Michael J Moorhouse, Chantal Morel, Tanya Nelson, Abdul Noor, Brian O'Connor, Darren O'Rielly, Francis Ouellette, Jillian Parboosingh, Hilary Racher, Peter Ray, Heidi Rehm, Christie Riddell, Jean-Baptiste Riviere, David S. Rosenblatt, Guy Rouleau, Andrea Ruchon, Peter Sabatini, Bekim Sadikovic, Kara Semotiuk, Stephen W. Scherer, Cheryl Shuman, Josh Silver, Katherine Siminovitch, Lesley Solomon-Izsak, Jean-Francois Soucy, Marsha Speevak, James Stavropoulos, Lincoln Stein, Rhonda Tannenbaum, Deborah Terespolsky, Richard F. Wintle, Beatrix Wong, Nora Wong, Marina Wang, Nicholas Watkins, Shana White, Michael O. Woods, Philip Wyatt
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(3)
PurposeThe purpose of this study was to develop a national program for Canadian diagnostic laboratories to compare DNA-variant interpretations and resolve discordant-variant classifications using the BRCA1 and BRCA2 genes as a case study.MethodsBRCA1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b3af47c756c82663a6bb46ec7bc8250
https://pubmed.ncbi.nlm.nih.gov/28726806
https://pubmed.ncbi.nlm.nih.gov/28726806
Publikováno v:
Genetics in Medicine. 14:883-886
This study reports on the phenotype of cystic fibrosis patients identified to be carriers of the p.Ser489X (p.Ser489*; c.1466CA) cystic fibrosis transmembrane conductance regulator (CFTR) mutation, a variant rarely described in the cystic fibrosis li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6abdad75474a6a4fe63ea94e633a3516
https://doi.org/10.1038/gim.2012.57
https://doi.org/10.1038/gim.2012.57
Publikováno v:
American Journal of Medical Genetics Part A. 164:2682-2684
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba3b732b7ab3a59af0202a6d78576c73
https://doi.org/10.1002/ajmg.a.36682
https://doi.org/10.1002/ajmg.a.36682
Autor:
Stephen W. Scherer, Luzhang Gao, Aihau Hao, Sharon Chiappa, Wieslaw T. Dura, Theodora Stavrou, Ling Liu, Anja Lowrance, Michael D. Taylor, Corey Raffel, Ron Agatep, Jeremy A. Squire, Chi-chung Hui, Todd G. Mainprize, Brandon J. Wainwright, Alisa M. Goldstein, David Hogg, James T. Rutka, Xiaoyun Zhang
Publikováno v:
Nature Genetics. 31:306-310
The sonic hedgehog (SHH) signaling pathway directs the embryonic development of diverse organisms and is disrupted in a variety of malignancies. Pathway activation is triggered by binding of hedgehog proteins to the multipass Patched-1 (PTCH) recepto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d70ac05189647c2ff71b8c53b130135f
https://doi.org/10.1038/ng916
https://doi.org/10.1038/ng916
Autor:
Michael Sgro, Yigal Dror, Mary Shago, Sharan Goobie, Katherina Walz, Cesar P. Canales, David Chitayat, Phillip Ruiz, Grace Yoon, Irene C. Perez, Ron Agatep, Roberto Mendoza-Londono, Elaine Suk Ying Goh
Publikováno v:
American journal of medical genetics. Part A. (7)
Potocki-Lupski syndrome is a genomic disorder caused by duplication of 17p11.2. It is characterized by failure to thrive, intellectual disability, hypotonia, and behavioral difficulties. Structural renal anomalies have been observed in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e94e454fe0a0825430179e10820e561a
https://pubmed.ncbi.nlm.nih.gov/22639462
https://pubmed.ncbi.nlm.nih.gov/22639462
Autor:
N Metheny, M Ter-Minassian, Donato Calista, Alisa M. Goldstein, Ron Agatep, R Steighner, William S. Modi, S Tsang, David W. Hogg, David J. Munroe, Maria Teresa Landi, B Staats, Michael Dean
Publikováno v:
Scopus-Elsevier
Cutaneous malignant melanoma (CMM) is a potentially fatal form of skin cancer, whose incidence and mortality are increasing in the Western world.1,2 Approximately 3–12% of cutaneous malignant melanoma develops in families with multiple cases of mel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6071fffd6e130e1c39f08a78790a631c
https://europepmc.org/articles/PMC1735833/
https://europepmc.org/articles/PMC1735833/