Caitlin Chisholm

Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines

Caitlin Chisholm, Hussein Daoud, Mahdi Ghani et al. · Genetics in Medicine · 2017 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Matthew S. Lebo, Kathleen-Rose Zakoor, Kathy Chun et al. · Genetics in Medicine · 2017 · 31 citations · Full text

Life Sciences, Genetics, Oncology +11

Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario

Robin Z. Hayeems, Christian R. Marshall, Meredith Gillespie et al. · CMAJ Open · 2022 · 14 citations · Full text

Medicine, Genetics, Molecular Medicine +17

Congenital tremor and myopathy secondary to novel MYBPC1 variant

Heather Leduc‐Pessah, Ian C. P. Smith, Kristin D. Kernohan et al. · Journal of the Neurological Sciences · 2024 · 13 citations

Medicine, Genetics, Neurology +14

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Taila Hartley, Élisabeth Soubry, Meryl Acker et al. · Clinical Genetics · 2022 · 11 citations

Life Sciences, Genetics, Molecular Genetics +17