Stacy Hewson

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 30 publications

TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist.

TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist.

Journal: BMJ open

Published: August 10, 2025

Interests and Experiences of Young Adults with Muscular Dystrophy in Receiving Genetic Information.

Interests and Experiences of Young Adults with Muscular Dystrophy in Receiving Genetic Information.

Journal: Journal of child neurology

Published: April 17, 2025

Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program.

Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: April 13, 2025

Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.

Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.

Journal: BMJ open

Published: September 04, 2024

Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review.

Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review.

Journal: International journal of neonatal screening

Published: January 05, 2024

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 20, 2023

Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.

Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.

Journal: Human molecular genetics

Published: June 19, 2023

Exploring Barriers and Facilitators to Indirect Cascade Screening for Familial Hypercholesteraemia in a Paediatric/Parent Population.

Exploring Barriers and Facilitators to Indirect Cascade Screening for Familial Hypercholesteraemia in a Paediatric/Parent Population.

Journal: CJC pediatric and congenital heart disease

Published: April 25, 2023

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 21, 2022

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 06, 2022

Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.

Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.

Journal: Genes

Published: July 06, 2021

The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.

The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 05, 2021

Showing 1-12 of 30

Last Updated: 09/26/2026