Grace Uwaila Ediae

ThinkRare: A search algorithm to identify patients with undiagnosed rare genetic disease in an electronic medical record

Grace Uwaila Ediae, Alexandre M. White‐Brown, Caitlin Chisholm, Ivan Terekhov et autres

PURPOSE: Undiagnosed rare genetic diseases (RGD) can go unrecognized by health care providers, delaying appropriate genetic testing. This proof-of-concept study aimed to address this barrier through the development of a rule-based search algorithm called "ThinkRare." METHODS: The algorithm used structured electronic medical …

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P269: Penetrance and phenotypic findings of cardiovascular variants identified from biobank, secondary, and unanticipated findings in an adult clinical cohort

Eugene Wong, Grace Uwaila Ediae, Jessica Wang

As diagnostic genetic tests are more widespread, both secondary and unanticipated findings are being increasingly identified. Similarly, research biobanks are becoming more prevalent, with one goal being to return actionable genetic findings. In December 2023, UCLA Health launched the ATLAS Genetic Screening …

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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 Anne Marshall, Meryl Acker, Katharine Fooks et autres

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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 et autres

The patient raw exome datasets supporting this study haven been deposited in Genomics4RD, Canada's rare disease genomic data repository, and are available through controlled access by contacting the platform (https://www.genomics4rd.ca/).

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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 et autres

The introduction of clinical exome sequencing (ES) has provided a unique opportunity to decrease the diagnostic odyssey for patients living with a rare genetic disease (RGD). ES has been shown to provide a diagnosis in 29%-57% of patients with a suspected RGD, …

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Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia

Gabrielle Lemire, Bixia Zheng, Grace Uwaila Ediae, Ruobing Zou et autres

Abstract WNT9B plays a key role in the development of the mammalian urogenital system. It is essential for the induction of mesonephric and metanephric tubules, the regulation of renal tubule morphogenesis, and the regulation of renal progenitor cell expansion and differentiation. To …

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Utility of incorporating clinical information in variant interpretation for the Fibrillin-1 gene

Leichelle A. Little, Grace Uwaila Ediae, Landry E. Nfonsam, Mahdi Ghani et autres

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

Li Xin Zhang, Gabrielle Lemire, Claudia G. Gonzaga-Jauregui, Sirinart Molidperee et autres

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Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada

David Alexandre Dyment, Asuri Narayan Prasad, Kym M. Boycott, Grace Uwaila Ediae et autres

BACKGROUND: Epilepsy is a common neurological condition that shows a marked genetic predisposition. The advent of next-generation sequencing (NGS) has transformed clinical genetic testing by allowing the rapid screen for causative variants in multiple genes. There are currently no NGS-based multigene panel …

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