Julie Richer

401 Smyth Road
Ottawa, ON, Canada

Last Updated: 09/26/2026

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Found 61 publications

Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study.

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

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

Journal: American journal of human genetics

Published: January 19, 2026

New Frontiers in the Management of Aortic Disease.

New Frontiers in the Management of Aortic Disease.

Journal: The Canadian journal of cardiology

Published: October 04, 2025

Response to Krutish et al.

Response to Krutish et al.

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

Published: August 07, 2025

Loeys-Dietz syndrome: 2026 updated care management primer.

Loeys-Dietz syndrome: 2026 updated care management primer.

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

Published: August 01, 2025

Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing.

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

Early Onset Dystonia, Parkinsonism, and Spasticity in Siblings with VAC14-Associated Neurodegeneration: A Case Report and Literature Review.

Early Onset Dystonia, Parkinsonism, and Spasticity in Siblings with VAC14-Associated Neurodegeneration: A Case Report and Literature Review.

Journal: Movement disorders clinical practice

Published: March 27, 2025

Mainstreaming of clinical genetic testing: A conceptual framework.

Mainstreaming of clinical genetic testing: A conceptual framework.

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

Published: January 15, 2025

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant.

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant.

Journal: American journal of medical genetics. Part A

Published: September 18, 2024

Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing.

Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing.

Journal: Journal of medical genetics

Published: August 18, 2024

Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals.

Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals.

Journal: Journal of medical genetics

Published: July 03, 2024

Imaging Review of Pediatric Monogenic CNS Vasculopathy with Genetic Correlation.

Imaging Review of Pediatric Monogenic CNS Vasculopathy with Genetic Correlation.

Journal: Radiographics : a review publication of the Radiological Society of North America, Inc

Published: April 04, 2024

Showing 1-12 of 61

Last Updated: 09/26/2026