Stacey L. Hume

Vancouver, BC, Canada

Last Updated: 09/26/2026

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Found 24 publications

Identification of Two Novel Mutations in the CHM Gene Causing Choroideremia.

Identification of Two Novel Mutations in the CHM Gene Causing Choroideremia.

Journal: American journal of medical genetics. Part A

Published: October 20, 2025

Correction: EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.

Correction: EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.

Journal: European journal of human genetics : EJHG

Published: August 02, 2024

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.

Journal: European journal of human genetics : EJHG

Published: June 08, 2023

Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.

Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.

Journal: International journal of neonatal screening

Published: June 05, 2023

Correction: Methodology for clinical genotyping of CYP2D6 and CYP2C19.

Correction: Methodology for clinical genotyping of CYP2D6 and CYP2C19.

Journal: Translational psychiatry

Published: March 09, 2022

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.

Journal: Journal of medical genetics

Published: January 25, 2021

Methodology for clinical genotyping of CYP2D6 and CYP2C19.

Methodology for clinical genotyping of CYP2D6 and CYP2C19.

Journal: Translational psychiatry

Published: December 07, 2020

Retrospective testing of respiratory specimens for COVID-19 to assess for earlier SARS-CoV-2 infections in Alberta, Canada.

Retrospective testing of respiratory specimens for COVID-19 to assess for earlier SARS-CoV-2 infections in Alberta, Canada.

Journal: Journal of the Association of Medical Microbiology and Infectious Disease Canada = Journal officiel de l'Association pour la microbiologie medicale et l'infectiologie Canada

Published: September 03, 2020

Identification of high-impact gene-drug pairs for pharmacogenetic testing in Alberta, Canada.

Identification of high-impact gene-drug pairs for pharmacogenetic testing in Alberta, Canada.

Journal: Pharmacogenetics and genomics

Published: August 23, 2020

MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.

MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.

Journal: Molecular genetics and metabolism

Published: June 08, 2020

Newborn Screening: Current Status in Alberta, Canada.

Newborn Screening: Current Status in Alberta, Canada.

Journal: International journal of neonatal screening

Published: July 31, 2019

CCMG practice guideline: laboratory guidelines for next-generation sequencing.

CCMG practice guideline: laboratory guidelines for next-generation sequencing.

Journal: Journal of medical genetics

Published: March 15, 2019

Showing 1-12 of 24

Last Updated: 09/26/2026