Julien L. Marcadier
Calgary, AB, Canada
Last Updated: 09/26/2026
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Found 30 publications
Utility of genetic testing in heart transplant recipients: a systematic review and meta-analysis.
Journal: Transplantation reviews (Orlando, Fla.)
Published: April 25, 2026
ACTA2 Pathogenic Variants Activating Heat Shock Factor 1 and Increasing Cholesterol Biosynthesis in Smooth Muscle Cells Predispose to Early Onset Atherosclerosis.
Journal: Circulation. Genomic and precision medicine
Published: January 26, 2026
ACTA2 Pathogenic Variants Activating Heat Shock Factor 1 and Increasing Cholesterol Biosynthesis in Smooth Muscle Cells Predispose to Early Onset Atherosclerosis.
Journal: Circulation. Genomic and precision medicine
Published: January 26, 2026
Exploring RBFOX2 Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome.
Journal: Circulation. Genomic and precision medicine
Published: November 12, 2025
Dystrophin-Deficient Cardiomyopathy Due to a Novel Hemizygous DMD Indel Variant.
Journal: JACC. Case reports
Published: August 21, 2025
Genome Sequencing Identifies a Heterozygous Deletion of RBFOX2 in a Family With Congenital Heart Disease: A Case Report.
Journal: American journal of medical genetics. Part A
Published: June 04, 2025
To test or not to test? Study protocol for a best-worst scaling to understand decision-making and preferences for genetic testing in moderate-risk individuals.
Journal: PloS one
Published: May 01, 2025
Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome.
Journal: Journal of the American College of Cardiology
Published: February 15, 2025
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
Journal: American journal of medical genetics. Part A
Published: January 14, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.
Journal: Journal of medical genetics
Published: July 17, 2024
Last Updated: 09/26/2026