Chris Kay

950 West 28th Avenue
Vancouver, BC, Canada

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 29 publications

Clinical implications of loss of interruption variants for diagnosis, genetic counselling, and clinical trials in Huntington's disease.

Clinical implications of loss of interruption variants for diagnosis, genetic counselling, and clinical trials in Huntington's disease.

Journal: Journal of Huntington's disease

Published: May 27, 2026

Sequence Variants in Small CAG Repeat Expansions of the HTT Gene and Disease Onset and Progression in Huntington Disease.

Sequence Variants in Small CAG Repeat Expansions of the HTT Gene and Disease Onset and Progression in Huntington Disease.

Journal: Neurology

Published: December 19, 2025

Ascertainment of uninterrupted CAG repeat length and disease-modifying variants in fragment-based genetic testing for Huntington Disease.

Ascertainment of uninterrupted CAG repeat length and disease-modifying variants in fragment-based genetic testing for Huntington Disease.

Journal: Genetics in medicine open

Published: April 16, 2024

The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort.

The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort.

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

Published: April 10, 2024

Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range.

Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range.

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

Published: May 29, 2020

pS421 huntingtin modulates mitochondrial phenotypes and confers neuroprotection in an HD hiPSC model.

pS421 huntingtin modulates mitochondrial phenotypes and confers neuroprotection in an HD hiPSC model.

Journal: Cell death & disease

Published: April 23, 2020

Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East.

Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East.

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

Published: April 15, 2020

A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease.

A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease.

Journal: American journal of human genetics

Published: July 15, 2019

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.

Journal: American journal of human genetics

Published: January 30, 2019

Epidemiology of Huntington disease.

Epidemiology of Huntington disease.

Journal: Handbook of clinical neurology

Published: September 27, 2017

The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population.

The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: May 30, 2017

A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease.

A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease.

Journal: Scientific reports

Published: May 23, 2017

Showing 1-12 of 29

Last Updated: 09/26/2026