Lijia Huang
Ottawa, ON, Canada
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 47 publications
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.
Journal: Clinical genetics
Published: May 12, 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
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
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
Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 10, 2025
A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources.
Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Published: January 05, 2024
Congenital tremor and myopathy secondary to novel MYBPC1 variant.
Journal: Journal of the neurological sciences
Published: October 24, 2023
Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions.
Journal: Clinical therapeutics
Published: January 17, 2023
Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury.
Journal: Pathology
Published: January 08, 2023
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Journal: Clinical genetics
Published: September 25, 2022
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Journal: American journal of medical genetics. Part A
Published: September 08, 2022
Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.
Journal: CMAJ open
Published: May 24, 2022
Last Updated: 09/26/2026