Jillian S. Parboosingh
Calgary, AB, Canada
Last Updated: 09/26/2026
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Found 76 publications
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
Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.
Journal: American journal of medical genetics. Part A
Published: April 21, 2024
A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources.
Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Published: January 05, 2024
Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.
Journal: International journal of neonatal screening
Published: June 05, 2023
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 13, 2023
Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo.
Journal: G3 (Bethesda, Md.)
Published: January 18, 2022
The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing.
The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing.
Journal: International journal of neonatal screening
Published: October 11, 2021
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer.
Journal: Journal of medical genetics
Published: September 23, 2021
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.
Journal: Journal of medical genetics
Published: April 03, 2021
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Journal: Journal of medical genetics
Published: January 25, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Journal: American journal of human genetics
Published: July 27, 2020
Last Updated: 09/26/2026