International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases by Kym M Boycott, Lilian PL Lau, Christine M Cutillo, Christopher P Austin

Get full text

Consent Codes: Upholding Standard Data Use Conditions. by Stephanie O M Dyke, Anthony A Philippakis, Jordi Rambla De Argila, Dina N Paltoo, Erin S Luetkemeier, Bartha M Knoppers, Anthony J Brookes, J Dylan Spalding, Mark Thompson, Marco Roos, Kym M Boycott, Michael Brudno, Matthew Hurles, Heidi L Rehm, Andreas Matern, Marc Fiume, Stephen T Sherry

Get full text

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium by Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott

Get full text

TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist by Christian R Marshall, Sonya Elango, Salma Shickh, Raymond H Kim, Kym M Boycott, Wendy J Ungar, Jasmin Bhawra, Viji Venkataramanan, Robin Z Hayeems, Gregory Costain, Caitlin Chisholm, Taila Hartley, Roberto Mendoza-Londono, Martin Somerville, Oana Caluseriu, Stacy Hewson, Kaitlin J Stanley, Meredith K Gillespie, Natalie del Signore, Gordon McSheffrey, Sarah L Sawyer, Alexandre White-Brown, Stephanie Telesca

Get full text

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort by Jamie C. Stark, Neta Pipko, Yijing Liang, Anna Szuto, Chung Ting Tsoi, Megan A. Dickson, Kyoko E. Yuki, Huayun Hou, Sydney Scholten, Kenzie Pulsifer, Meryl Acker, Meredith Laver, Harsha Murthy, Olivia M. Moran, Emily Bonnell, Nicole Liang, Jashanpreet Sidhu, Lucie Dupuis, Mohammad M. Ghahramani Seno, Care4Rare Canada Consortium, Marisa Chard, Rebekah K. Jobling, Jessie Cameron, Rose Chami, Michal Inbar-Feigenberg, Michael D. Wilson, David A. Chitayat, Kym M. Boycott, Lianna Kyriakopoulou, Roberto Mendoza-Londono, Christian R. Marshall, James J. Dowling, Gregory Costain, Ashish R. Deshwar

Get full text