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Author

K. Boycott

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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.

National guidance to support secure, ethical, and effective genetic data sharing by Canadian clinical laboratories is developed and aims to align Canadian clinical laboratory data-sharing practices with international standards and improve diagnostic accuracy, equity, and innovation in genomic medicine.

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

It is argued that Canada needs to move toward a genomics-informed learning health system for rare disease (RD); one in which diagnosis, care, discovery, and patient outcomes are connected in a continuous cycle of learning.

K. Boycott, E. Price, M. Osmond et al. · 0 citations

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