P429: Epidemiological assessment of autosomal recessive founder mutations in the Canadian Mennonite population

Autor: Bradley Prince, Tisiana Low, Ronald Agatep, Beth Spriggs, Richard Leduc, Matthew Kraljevic, Ashish Marwaha, Lindsay Fithen, Tatiana Kalashnikova, Nicola Wright

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101323- (2024)

Externí odkaz: https://doaj.org/article/3cddd680a6f3419ca6d1d1c2489df289

Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene

Autor: Sherri Burnett, Ronald Agatep, Bernard N. Chodirker, Elizabeth Spriggs, Aizeddin A. Mhanni, Afia Hasnain

Publikováno v: Molecular Case Studies. 7:a006106

Nonimmune hydrops fetalis, the excessive accumulation of serous fluid in the subcutaneous tissues and serous cavities of the fetus, has many possible etiologies, providing a diagnostic challenge for the physician. Lysosomal storage diseases have been

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a8f6debc3ef7fac0daaaf1cd1acb651d
https://doi.org/10.1101/mcs.a006106

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

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

Yeast two-hybrid system: part B—screening procedure

Autor: Sharon L. Simon, Robert D. Kirkpatrick, R. Daniel Gietz, Ronald Agatep, Debra L. Parchaliuk

Publikováno v: Technical Tips Online. 4:30-34

▼The two-hybrid system (THS), first introduced by Fieldsand Song (Ref. 1), is a powerful technique for identifyingnew proteins involved in specific biological processes. It al-lows for the rapid isolation of the gene that codes for a pro-tein tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd7c9217c1eecb77b3f0ce515336f366
https://doi.org/10.1016/s1366-2120(08)70133-8

Yeast two-hybrid system: part A: screen preparation

Autor: Ronald Agatep, Debra L. Parchaliuk, R. Daniel Gietz, Robert D. Kirkpatrick, Sharon L. Simon

Publikováno v: Technical Tips Online. (1):6-15

▼The two-hybrid system (THS), first introduced by Fieldsand Song (1989) (Ref. 1), is a powerful technique for identi-fyingnew proteinsinvolved in specific biologicalprocesses.It allows for the rapid isolation of the gene that codes fora protein t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bb2ca89e3e126cdee8b119c0dd586b9