Alexandre M. Brown-White
Ottawa, ON, Canada
Last Updated: 09/26/2026
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Found 14 publications
TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist.
Journal: BMJ open
Published: August 10, 2025
ThinkRare: A search algorithm to identify patients with undiagnosed rare genetic disease in an electronic medical record.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 25, 2025
FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.
Journal: Annals of clinical and translational neurology
Published: October 23, 2024
A Noncanonical Splice Variant in RTEL1 Responsible for Familial Pulmonary Fibrosis.
Journal: American journal of medical genetics. Part A
Published: September 09, 2024
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.
Journal: American journal of human genetics
Published: February 27, 2024
PRKAG2 -Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review.
Journal: American journal of medical genetics. Part A
Published: February 14, 2024
Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.
Journal: American journal of medical genetics. Part A
Published: April 24, 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.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 21, 2023
Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder.
Journal: American journal of medical genetics. Part A
Published: February 17, 2023
Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury.
Journal: Pathology
Published: January 08, 2023
Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature.
Journal: Frontiers in cell and developmental biology
Published: August 18, 2022
Last Updated: 09/26/2026