Publications by authors named "Grace U Ediae"

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ThinkRare: A search algorithm to identify patients with undiagnosed rare genetic disease in an electronic medical record.
Grace U Ediae, Alexandre White-Brown, Caitlin Chisholm, Ivan Terekhov, Jon Seymour

Genet Med· November 2025

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Pathogenic variant in the X-linked ARR3 gene associated with variable early-onset myopia.
Grace Uwaila Ediae, Caitlin Chisholm, Gabrielle Lemire, Fred Campbell, Kym M Boycott

Am J Med Genet A· February 2024

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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Taila Hartley, Deborah Marshall, Meryl Acker, Katharine Fooks, Meredith K Gillespie, Grace U Ediae

Genet Med· February 2024

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The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Grace Uwaila Ediae, Gabrielle Lemire, Caitlin Chisholm, Taila Hartley, Alison Eaton

Am J Med Genet A· February 2023

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Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
Gabrielle Lemire, Bixia Zheng, Grace U Ediae, Ruobing Zou, Priya T Bhola

Am J Med Genet A· October 2021

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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, Grace U Ediae

Genet Med· August 2020

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Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada.
David A Dyment, Asuri N Prasad, Kym M Boycott, Grace U Ediae, Taila Hartley

Can J Neurol Sci· January 2020

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