Stephanie F. Bortnick
Vancouver, BC, Canada
Last Updated: 09/26/2026
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Found 8 publications
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
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.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 10, 2024
Pipeline to gene discovery - Analysing familial Parkinsonism in the Queensland Parkinson's Project.
Journal: Parkinsonism & related disorders
Published: October 09, 2017
Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.
Journal: Movement disorders clinical practice
Published: February 09, 2017
α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.
Journal: Annals of neurology
Published: December 09, 2015
Mutant COQ2 in multiple-system atrophy.
Journal: The New England journal of medicine
Published: July 03, 2014
Showing 1-8 of 8
Last Updated: 09/26/2026