Next-generation sequencing has transformed diagnosis, prognosis, and treatment across rare disease, cancer, immunology, and infectious disease. As variant interpretation may evolve with emerging evidence, sharing genetic data is essential to improve diagnostic accuracy and advance genomic medicine. However, practical g...
J. Lerner-Ellis, Y. Fisher, Ma'n H. Zawati et al.· American Journal of Human Ge...· 0 citations
This case represents the second confirmed adult-onset CTC1-related disorder and the longest survival to date and suggests that subcutaneous calcifications and progressive renal and multi-organ disease may represent later-onset manifestations of the condition.
Élisabeth C Soubry, J. K. Postma, Meredith K. Gillespie et al.· American Journal of Medical...· 0 citations
With sustained investment and a national vision, Canada has the potential to create a more integrated and effective system for managing rare diseases. In the first article in this series, we argued that Canada needs to move toward a genomics-informed learning health system for rare disease (RD); one in which diagno...
K. Boycott, E. Price, M. Osmond et al.· Open Access Government· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.