Ashish K. Marwaha
Calgary, AB, Canada
Last Updated: 09/26/2026
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Found 28 publications
Best practices in demographic data collection for equity, diversity, and inclusion in rare disease research: A systematic review.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 08, 2025
Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Journal: The Journal of clinical investigation
Published: November 03, 2025
Relationship between participant-reported outcomes, residual beta cell function and metabolic parameters in youth with newly diagnosed type 1 diabetes.
Journal: Diabetologia
Published: September 15, 2025
General Population Screening for Type 1 Diabetes in Canada---CanScreenT1D.
Journal: Canadian journal of diabetes
Published: July 14, 2025
Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis.
Journal: The Journal of allergy and clinical immunology
Published: October 04, 2024
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis.
Journal: The Journal of experimental medicine
Published: March 25, 2024
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: March 11, 2024
Ustekinumab for type 1 diabetes in adolescents: a multicenter, double-blind, randomized phase 2 trial.
Journal: Nature medicine
Published: February 09, 2024
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
Association between cystic fibrosis transmembrane regulator genotype and clinical outcomes, glucose homeostasis indices and CF-related diabetes risk in adults with CF.
Journal: Genetics and molecular biology
Published: February 27, 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Journal: The Journal of clinical investigation
Published: August 31, 2022
Last Updated: 09/26/2026