Joanna Lazier

Ottawa, ON, Canada

Last Updated: 09/26/2026

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Found 26 publications

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.

Journal: Journal of medical genetics

Published: April 19, 2025

Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Journal: Clinical genetics

Published: March 12, 2025

Working together: development of a genetic counselling curriculum in a medical genetics residency training program.

Working together: development of a genetic counselling curriculum in a medical genetics residency training program.

Journal: Journal of community genetics

Published: October 09, 2024

The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity.

The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity.

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

Published: May 21, 2024

Next generation of free? Points to consider when navigating sponsored genetic testing.

Next generation of free? Points to consider when navigating sponsored genetic testing.

Journal: Journal of medical genetics

Published: August 10, 2023

Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome.

Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome.

Journal: Bone reports

Published: August 09, 2023

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.

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

Published: April 21, 2023

Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.

Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.

Journal: Genes

Published: October 01, 2022

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Journal: Clinical genetics

Published: September 25, 2022

From "ACAN" to "I CAN": Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation management.

From "ACAN" to "I CAN": Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation management.

Journal: Bone reports

Published: September 24, 2022

Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report.

Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report.

Journal: Clinical case reports

Published: August 09, 2022

Expanding the clinical spectrum of autosomal-recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature.

Expanding the clinical spectrum of autosomal-recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature.

Journal: Molecular genetics & genomic medicine

Published: January 19, 2022

Showing 1-12 of 26

Last Updated: 09/26/2026