Bibliotecas PUC-SP - Busca Integrada

P740: DMD or not DMD? Clinical genome sequencing in the interpretation of complex copy number gains

door Edward Higginbotham, Lynette Lau, Bhooma Thiruvahindrapuram, Jeffrey MacDonald, Wilson Sung, Olivia Moran, Afia Hasnain, Dimitri Stavropoulos, Melanie Beaulieu Bergeron, Kym Boycott, Vanda McNiven, Kathy Chun
Gepubliceerd in Genetics in Medicine Open (2024-01-01)

P642: Development and deployment of clinical genome sequencing using a cloud-based platform

door 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
Gepubliceerd in Genetics in Medicine Open (2024-01-01)

O05: A micro-costing and cost-effectiveness analysis of genome sequencing vs exome sequencing in pediatric rare diseases

door 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
Gepubliceerd in Genetics in Medicine Open (2024-01-01)

P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study

door Nicole Si Yan Liang, Gregory Costain, Alissa D'Gama, Amy McTague, Katherine Howell, Vann Chau, Sarah Mulhern, Annapurna Poduri, Ingrid Scheffer, Beth Sheidley, Meredith Curtis, Edward Higginbotham, Tayyaba Khan, Lyndsey McRae, Kimberly Wiltrout, Robin Hayeems, Puneet Jain, Sebastian Lunke, Christian Marshall, Lyn Chitty, Shira Rockowitz, Zornitza Stark, Susan White
Gepubliceerd in Genetics in Medicine Open (2024-01-01)