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Author

K. Boycott

3 papers indexed here

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Review Open access Sep 2026

Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical Geneticists.

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. · 0 citations
Case report Aug 2026

Adult-Onset CTC1-Related Disorder With Kidney Disease, Subcutaneous Dystrophic Calcifications and Telomere Length Conservation.

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. · 0 citations
Open access Jul 2026

Data infrastructure is the foundation of a learning health ecosystem: A Canadian challenge for rare genetic diseases

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. · 0 citations

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