Christian R. Marshall
Toronto, ON, Canada
Last Updated: 09/26/2026
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Found 237 publications
Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenita.
Journal: Neurogenetics
Published: April 27, 2026
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
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.
Journal: Neurology
Published: February 13, 2026
A novel phenotype-guided genome analysis pipeline for variant discovery.
Journal: NPJ genomic medicine
Published: October 06, 2025
Reclassification of missense variant pathogenicity using ClinGen recommendations for recalibrated PP3/BP4 in silico predictor score thresholds.
Journal: Genetics in medicine open
Published: September 09, 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.
Journal: BMJ open
Published: August 10, 2025
Interventional genomics: Bridging germline diagnosis and therapeutic action.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 30, 2025
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
Barriers and facilitators to implementing clinical genome-wide sequencing: A scoping review of the global landscape.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 19, 2025
A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 24, 2025
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 19, 2025
Last Updated: 09/26/2026