Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Caitlin Chisholm"'
Autor:
Wendy Ungar, Vercancy Wu, Christian Marshall, Jackie Hwang, Robin Hayeems, Kate Tsiplova, Meredith Gillespie, Anna Szuto, Caitlin Chisholm, Dimitri Stavropoulos, Viji Venkataramanan, Bowen Xiao, Sheena Li, Gregory Costain, Melanie Beaulieu Bergeron, Sarah Sawyer, Lynette Lau, Lijia Huang, Roberto Mendoza-Londono, Brian Smith, Edward Higginbotham, Martin Somerville, Kym Boycott
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101365- (2024)
Externí odkaz:
https://doaj.org/article/3031b497e1034a96a0e6104670aa93a3
Autor:
Meredith Gillespie, Robin Hayeems, Christian Marshall, Anna Szuto, Caitlin Chisholm, James Stavropoulos, Lijia Huang, Lynette Lau, Wilson Sung, Melanie Beaulieu Bergeron, Ted Higginbotham, Meredith Curtis, Venuja Sriretnakumar, Hassan Zaidi, Emma Hitchcock, Audrey Schaffer, Taila Hartley, Sarah Sawyer, Wendy Ungar, Gregory Costain, Roberto Mendoza-Londono, Anna Pan, Jennifer Keating, Diana Matviychuk, Tamara Braid, Niri Carroll, Martin Somerville, Kym Boycott
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101439- (2024)
Externí odkaz:
https://doaj.org/article/7cb72d80762545fcbb743ddaf0ea7845
Autor:
E. Magda Price, Meredith Gillespie, Caitlin Chisholm, Ruben Attali, Talia Silver, Anna Szuto, GSO Study Team, Jacques Michaud, Dennis Bulman, Jordan Lerner-Ellis, Ma'n Zawati, Vincent Ferretti, Francois Bernier, Christian Marshall, Kym Boycott
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101503- (2024)
Externí odkaz:
https://doaj.org/article/7e166202565e4e5c86c3da802ba741db
Autor:
Meredith Gillespie, Robin Hayeems, Christian Marshall, Anna Szuto, Caitlin Chisholm, Wendy Ungar, James Stavropoulos, Lijia Huang, Viji Venkataramanan, Lynette Lau, Wilson Sung, Melanie Beaulieu Bergeron, Ted Higginbotham, Meredith Curtis, Venuja Sriretnakumar, Hassan Zaidi, Emma Hitchcock, Audrey Schaffer, Sarah Sawyer, Gregory Costain, Roberto Mendoza-Londono, Martin Somerville, Kym Boycott, Taila Hartley
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101522- (2024)
Externí odkaz:
https://doaj.org/article/32770ac66d274cc6a8cb19dd804ef9aa
Autor:
Lynette Lau, Edward Higginbotham, Wilson Sung, Venuja Sriretnakumar, Meredith Curtis, Caitlin Chisholm, Meredith Gillespie, Anna Pan, Sean Kim, Sean Simko, E. Magda Price, Marianne Eliou, Anna Szuto, Michelle Axford, Martin Somerville, Kym Boycott, Jean McGowan-Jordan, Melaine Beaulieu Bergeron, James Stavropoulos, Lijia Huang, Christian Marshall
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101548- (2024)
Externí odkaz:
https://doaj.org/article/8fc9fec7563e4535ace9bbc1d04d8659
Autor:
Katharine Fooks, Lydia Vermeer, Elise Poole, Stephanie Luca, Riyana Babul-Hirji, Lauren Chad, David Chitayat, Michael Mackley, Marci Schwartz, Wendy Ungar, Robin Hayeems, Secondary Findings Study Team, Joyce Yan, Abigail Hansen, Viji Venkataramanan, Daniel Assamad, Christian Marshall, Meredith Gillespie, Anna Szuto, Caitlin Chisholm, James Stavropoulos, Lijia Huang, Olga Jarinova, Lynette Lau, Whiwon Lee, Lauren Badalato, Tugce Balci, Cara Inglese, Virginie Beausejour Ladouceur, Chantal Morel, Julie Richer, Mark Tarnopolsky, Anita Villani, Laura Zahavich, Olivia Moran, Sarah Sawyer, Roberto Mendoza-Londono, Martin Somerville, Kym Boycott
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101780- (2024)
Externí odkaz:
https://doaj.org/article/4be333aebe834f04a4f559f70ae040d3
Autor:
Abigail Hansen, Stephanie Luca, Olivia Moran, Riyana Babul-Hirji, Joyce Yan, Katharine Fooks, Viji Venkataramanan, Wendy Ungar, Robin Hayeems, Secondary Findings Study Team, Elise Poole, Daniel Assamad, Pooja Banglorewala, Lydia Vermeer, Christian Marshall, Meredith Gillespie, Anna Szuto, Caitlin Chisholm, James Stavropoulos, Lijia Huang, Olga Jarinova, Lynette Lau, Whiwon Lee, Lauren Badalato, Tugce Balci, Lauren Chad, Cara Inglese, Virginie Ladouceur, Michael Mackley, Chantal Morel, Julie Richer, Mark Tarnopolsky, Anita Villani, Laura Zahavich, Sarah Sawyer, Roberto Mendoza-Londono, Martin Somerville, Kym Boycott
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101787- (2024)
Externí odkaz:
https://doaj.org/article/123c565b5d7a40e586b504ab2397ef25
Autor:
Grace Uwaila, Ediae, Gabrielle, Lemire, Caitlin, Chisholm, Taila, Hartley, Alison, Eaton, Matthew, Osmond, Samantha K, Rojas, Lijia, Huang, Meredith, Gillespie, Sarah L, Sawyer, Kym M, Boycott
Publikováno v:
American Journal of Medical Genetics Part A. 191:338-347
The introduction of clinical exome sequencing (ES) has provided a unique opportunity to decrease the diagnostic odyssey for patients living with a rare genetic disease (RGD). ES has been shown to provide a diagnosis in 29%-57% of patients with a susp
Autor:
Taila, Hartley, Élisabeth, Soubry, Meryl, Acker, Matthew, Osmond, Madeline, Couse, Meredith K, Gillespie, Yoko, Ito, Aren E, Marshall, Gabrielle, Lemire, Lijia, Huang, Caitlin, Chisholm, Alison J, Eaton, E Magda, Price, James J, Dowling, Arun K, Ramani, Roberto, Mendoza-Londono, Gregory, Costain, Michelle M, Axford, Anna, Szuto, Vanda, McNiven, Nadirah, Damseh, Rebekah, Jobling, Leanne, de Kock, Bahareh A, Mojarad, Ted, Young, Zhuo, Shao, Robin Z, Hayeems, Ian D, Graham, Mark, Tarnopolsky, Lauren, Brady, Christine M, Armour, Michael, Geraghty, Julie, Richer, Sarah, Sawyer, Matthew, Lines, Saadet, Mercimek-Andrews, Melissa T, Carter, Gail, Graham, Peter, Kannu, Joanna, Lazier, Chumei, Li, Ritu B, Aul, Tugce B, Balci, Nomazulu, Dlamini, Lauren, Badalato, Andrea, Guerin, Jagdeep, Walia, David, Chitayat, Ronald, Cohn, Hanna, Faghfoury, Cynthia, Forster-Gibson, Hernan, Gonorazky, Eyal, Grunebaum, Michal, Inbar-Feigenberg, Natalya, Karp, Chantal, Morel, Alison, Rusnak, Neal, Sondheimer, Jodi, Warman-Chardon, Priya T, Bhola, Danielle K, Bourque, Inara J, Chacon, Lauren, Chad, Pranesh, Chakraborty, Karen, Chong, Asif, Doja, Elaine Suk-Ying, Goh, Maha, Saleh, Beth K, Potter, Christian R, Marshall, David A, Dyment, Kristin, Kernohan, Kym M, Boycott
Publikováno v:
Clinical geneticsREFERENCES.
We examined the utility of clinical and research processes in the reanalysis of publicly-funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we recruited 287 families with suspected rare genetic diseases tested
Autor:
Robin Z. Hayeems, Christian R. Marshall, Meredith K. Gillespie, Anna Szuto, Caitlin Chisholm, Dimitri J. Stavropoulos, Viji Venkataramanan, Kate Tsiplova, Sarah Sawyer, E. Magda Price, Lynette Lau, Reem Khan, Whiwon Lee, Lijia Huang, Olga Jarinova, Wendy J. Ungar, Roberto Mendoza-Londono, Martin J. Somerville, Kym M. Boycott
Publikováno v:
CMAJ open. 10(2)
Genome-wide sequencing has emerged as a promising strategy for the timely diagnosis of rare diseases, but it is not yet available as a clinical test performed in Canadian diagnostic laboratories. We describe the protocol for evaluating a 2-year pilot