Anthony M. Vandersteen
Halifax, NS, Canada
Last Updated: 09/26/2026
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Found 36 publications
Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.
Journal: JIMD reports
Published: June 09, 2025
VCP variants cause Adams-Oliver syndrome with or without pulmonary hypertension.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 28, 2024
Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 28, 2024
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Journal: Clinical immunology (Orlando, Fla.)
Published: June 11, 2024
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Journal: BMC pediatrics
Published: May 19, 2023
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Journal: Journal of medical genetics
Published: April 10, 2023
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.
Journal: Clinical and experimental rheumatology
Published: November 29, 2021
Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity.
Journal: Pediatrics
Published: July 19, 2021
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
Journal: Circulation
Published: September 08, 2020
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Journal: Orphanet journal of rare diseases
Published: December 09, 2019
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 30, 2019
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Journal: American journal of human genetics
Published: November 07, 2019
Last Updated: 09/26/2026