Jillian S. Parboosingh

University of Calgary — Canada

Biochemistry, Genetics and Molecular Biology · Life Sciences

43h-index5.5kcitations143works6.32yr avg
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Research Topics

Genomics and Rare Diseases(24), Genetics and Neurodevelopmental Disorders(15), RNA modifications and cancer(13), Neurogenetic and Muscular Disorders Research(13), Genomic variations and chromosomal abnormalities(12)

Publications138 total

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance
Neurogenetics·2026Open Access
Mainstreaming of clinical genetic testing: A conceptual framework
Genetics in Medicine·2025· 10 citedOpen Access
Genome sequencing identifies biallelic variants in <i>SCLT1</i> in a patient with syndromic nephronophthisis: Reflections on the <i>SCLT1</i>‐related ciliopathy spectrum
American Journal of Medical Genetics Part A·2024· 4 cited
A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques·2024· 11 citedOpen Access
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
Journal of Human Genetics·2023· 1 cited
Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project
International Journal of Neonatal Screening·2023· 13 citedOpen Access
P.072 Alberta Spinal Muscular Atrophy Newborn Screening (SMA-NBS) – 2022 results
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques·2023Open Access
Practice guidelines for <i>BRCA1/2</i> tumour testing in ovarian cancer
Journal of Medical Genetics·2022· 13 citedOpen Access
Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo
G3 Genes Genomes Genetics·2022· 8 citedOpen Access
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada
Genetics in Medicine·2021· 23 citedOpen Access
The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing
International Journal of Neonatal Screening·2021· 11 citedOpen Access
P.112 5q Spinal Muscular Atrophy Canadian Paediatric Surveillance Program - 2020 Results
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques·2021Open Access
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
Journal of Medical Genetics·2021· 38 citedOpen Access
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository
Journal of Medical Genetics·2021· 30 citedOpen Access
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
European Journal of Human Genetics·2021· 12 citedOpen Access
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
The American Journal of Human Genetics·2021· 25 citedOpen Access
Genetic Risk, Vascular Function, and Subjective Cognitive Complaints Predict Objective Cognitive Function in Healthy Older Adults: Results From the Brain in Motion Study
Frontiers in Integrative Neuroscience·2020· 6 citedOpen Access
<i>De novo</i> variants in <i>MPP5</i> cause global developmental delay and behavioral changes
Human Molecular Genetics·2020· 10 citedOpen Access
Association of sleep spindle characteristics with executive functioning in healthy sedentary middle‐aged and older adults
Journal of Sleep Research·2020· 28 cited
When to think outside the autozygome: Best practices for exome sequencing in “consanguineous” families
Clinical Genetics·2020· 14 cited
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Frequent Co-authors

A. Micheil Innes(29), François P. Bernier(20), Kym M. Boycott(16), Ryan E. Lamont(15), Jacek Majewski(12), D. Ross McLeod(8), Chandree L. Beaulieu(7), Jeremy Schwartzentruber(7), Robert A. Hegele(6), Albert E. Chudley(6), Carole Ober(5), Martine Tétreault(5), Dennis E. Bulman(5), Taila Hartley(5), David A. Dyment(5), Christopher Smith(5), Lijia Huang(4), Bernard N. Chodirker(4), Fowzan S. Alkuraya(4), Erik G. Puffenberger(4)