Kym M. Boycott

Ottawa, ON, Canada

Last Updated: 09/26/2026

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Found 265 publications

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

Journal: Clinical genetics

Published: May 12, 2026

Adult-Onset CTC1-Related Disorder With Kidney Disease, Subcutaneous Dystrophic Calcifications and Telomere Length Conservation.

Adult-Onset CTC1-Related Disorder With Kidney Disease, Subcutaneous Dystrophic Calcifications and Telomere Length Conservation.

Journal: American journal of medical genetics. Part A

Published: May 04, 2026

Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study.

Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study.

Journal: BMJ open

Published: March 27, 2026

Language in rare disease: a call for systemic and empathetic action.

Language in rare disease: a call for systemic and empathetic action.

Journal: Lancet (London, England)

Published: February 09, 2026

The Patient-reported Genetic testing Utility InDEx (P-GUIDE): A novel measure of personal utility.

The Patient-reported Genetic testing Utility InDEx (P-GUIDE): A novel measure of personal utility.

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

Published: December 16, 2025

Clinical utility of exome sequencing: Post-exome testing decision changes in the management of children with suspected rare genetic disease.

Clinical utility of exome sequencing: Post-exome testing decision changes in the management of children with suspected rare genetic disease.

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

Published: October 30, 2025

Clinical Utility of Exome Sequencing: Post-Exome Testing Decision Changes in the Management of Children with Suspected Rare Genetic Disease.

Clinical Utility of Exome Sequencing: Post-Exome Testing Decision Changes in the Management of Children with Suspected Rare Genetic Disease.

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

Published: October 30, 2025

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia.

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: September 24, 2025

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

Response to Krutish et al.

Response to Krutish et al.

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

Published: August 07, 2025

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

Journal: Journal of neurology

Published: August 05, 2025

Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing.

Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing.

Journal: Journal of genetic counseling

Published: July 11, 2025

Showing 1-12 of 265

Last Updated: 09/26/2026