Faculty profile

Jagdeep Walia

ResearcherPediatricsQueen's University

This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a Queen's University directory, so their courses and email address may be missing. Find their university profile.

Jagdeep Walia

Researcher

Pediatrics

Queen's University

Kingston, Ontario, Canada

Supervision signals

Has led research grants, which requires an independent research appointment. Ask their department whether they supervise graduate students.
3 publications in the last five years, latest in 2026.
Principal investigator on 6 research grants (6 CIHR), most recently in 2025.

These signals come from public records, including CIHR, NSERC and SSHRC funding decisions. Ask the professor or the graduate program whether they are taking new students.

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Citations

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Grants

Publications by year

Counts cover the publications linked to this profile. Citations and the h-index appear when the source records them.

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Signals and details

Research

Gene Therapy Adeno-Associated Virus Gm2 Gangliosidosis Creatine Transporter Infantile Lysosomal Storage Disease Autism Spectrum Epilepsy

Latest papers

The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study
Orphanet Journal of Rare Diseases · 2026
Characterization of Human Recombinant β1,4-GalNAc-Transferase B4GALNT1 and Inhibition by Selected Compounds.
Molecules (Basel, Switzerland) · 2025
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
Clinical Genetics · 2023

All 11 publications

Latest funding

Advanced development of first-in-human gene therapy for creatine transporter deficiency
CIHR · 2025 · Nominated PI
$1,392,300
Development of an Adeno-Associated Virus based Gene Therapy for AB-Variant GM2 Gangliosidosis
CIHR · 2024 · Nominated PI
$619,650
Planning for 1st XLID98 Foundation symposium to bring all stakeholders on one platform
CIHR · 2024 · Principal investigator
$27,455

All 9 grants and awards

11 publications.

The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study

Chow AJ, Jordan I, Pallone N, Smith M, Chakraborty P, Brehaut J, Chan AKJ, Cohen E, Dyack S, Graham ID

Orphanet Journal of Rare Diseases2026

DOI: 10.1186/s13023-026-04434-y

Characterization of Human Recombinant β1,4-GalNAc-Transferase B4GALNT1 and Inhibition by Selected Compounds.

Abidi I, Kocev AN, Babulic JL, Capicciotti CJ, Walia J, Brockhausen I

Molecules (Basel, Switzerland)2025

DOI: 10.3390/molecules30173615 PMID: 40942141

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Hartley T, Soubry É, Acker M, Osmond M, Couse M, Gillespie MK, Ito Y, Marshall AE, Lemire G, Huang L

Clinical Genetics202315 citations

DOI: 10.1111/cge.14262

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

Latypova X, Vincent M, Mollé A, Adebambo OA, Fourgeux C, Khan TN, Caro A, Rosello M, Orellana C, Niyazov D, Lederer D, Deprez M, Capri Y, Kannu P, Tabet AC, Levy J, Aten E, den Hollander N, Splitt M, Walia J, Immken LL, Stankiewicz P, McWalter K, Suchy S, Louie RJ, Bell S, Stevenson RE, Rousseau J, Willem C, Retiere C, Yang XJ, Campeau PM, Martinez F, Rosenfeld JA, Le Caignec C, Küry S, Mercier S, Moradkhani K, Conrad S, Besnard T, Cogné B, Katsanis N, Bézieau S, Poschmann J, Davis EE, Isidor B

American journal of human genetics2021

DOI: 10.1016/j.ajhg.2021.03.017 PMID: 33811806

Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Rahman A, Chakraborty P, Geraghty MT, Irwin J, Tessier L

Orphanet Journal of Rare Diseases202025 citationsOpen Access

DOI: 10.1186/s13023-019-1276-1 PMID: W3002669956

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

Tingley K, Lamoureux M, Pugliese M, Geraghty MT, Kronick JB, Potter BK, Coyle D, Wilson K, Kowalski M, Austin V

Orphanet Journal of Rare Diseases202015 citationsOpen Access

DOI: 10.1186/s13023-020-01358-z PMID: W3016105827

Mobile element insertion detection in 89,874 clinical exomes.

Torene RI, Galens K, Liu S, Arvai K, Borroto C, Scuffins J, Zhang Z, Friedman B, Sroka H, Heeley J, Beaver E, Clarke L, Neil S, Walia J, Hull D, Juusola J, Retterer K

Genetics in medicine : official journal of the American College of Medical Genetics2020

DOI: 10.1038/s41436-020-0749-x PMID: 31965078

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D, SYNAPS Study Group, Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H

American journal of human genetics2020

DOI: 10.1016/j.ajhg.2020.06.016 PMID: 32738225

Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature

Ho B, MacKenzie J, Walia J, Geraghty M, Smith G, Nedvidek J, Guerin A

JIMD Reports20195 citations

DOI: 10.1002/jmd2.12025

Telocytes as possible precursors of PDGFRA-mutant gastrointestinal mesenchymal tumors-reply to rejoinder.

Manley P, Walia J, Kirsch R, Riddell R

Human pathology2019

DOI: 10.1016/j.humpath.2018.08.036 PMID: 30339967

Advanced development of first-in-human gene therapy for creatine transporter deficiency

Nominated PICIHR2025Project Grant

Principal investigators: Walia, Jagdeep S

Keywords: Autism Spectrum; Creatine Transporter; Epilepsy; Gene Therapy; Intellectual Disability; Slc6a8; Toxicology

$1,392,300

Development of an Adeno-Associated Virus based Gene Therapy for AB-Variant GM2 Gangliosidosis

Nominated PICIHR2024Project Grant

Principal investigators: Walia, Jagdeep S

Keywords: Ab-Variant Gm2; Adeno-Associated Virus; Gene Therapy; Gm2 Activator Protein; Gm2 Gangliosidosis; Lysosomal Storage Disorders; Monogenic Diseases; Mouse Models; Neurodegenerative Diseases; Preclinical

$619,650

Planning for 1st XLID98 Foundation symposium to bring all stakeholders on one platform

Principal investigatorCIHR2024Planning and Dissemination Grant - Institute Community Support

Principal investigators: Foundation, XLIDNinety-eight; Walia, Jagdeep S

Keywords: Autism; Epilepsy; X-Linked Intellectual Disability; Xlid98

$27,455

A Phase 1/2, Open-Label Clinical Study to Evaluate the Safety and Efficacy of Intrathecal hB-A Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis

Nominated PICIHR2023Operating Grant: Clinical Trials Projects

Principal investigators: Walia, Jagdeep S; McMillan, Hugh J

Keywords: Adeno-Associated Virus; Gene Therapy; Gm2 Gangliosidosis; Infantile; Lysosomal Storage Disease

$2,689,733

RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network

Co-investigatorCIHR2023Team Grant: Pediatric Rare Disease Clinical Network

Principal investigators: Lacaze-Masmonteil, Thierry; Anagnostou, Evdokia; Baribeau, Danielle A; Batthish, Michelle; Bernard, Geneviève; Bernier, Francois P; Butcher, Nancy J; Campbell, Craig Gordon N; Cross, Andrea; Dyack, Sarah; Gantt, Soren M; Gravel, Christopher; Haddad, Elie; Heath, Anna; Kelly, Lauren; King, Alexandra; Klassen, Terry P; Knisley, Lisa; Lai, Meng-Chuan; Lewis, Tamorah R; Marwaha, Ashish K; McBride, Kim; Mitchell, John J; Moore Hepburn, Charlotte; Mooser, Vincent E; Myers, Kenneth A; Offringa, Martin; Oskoui, Maryam; Portales-Casamar, Elodie; Pot, Sara; Potter, Elizabeth K; Richer, Lawrence P; Round, Jeff; Stewart, Breanne; Subbarao, Padmaja; Thebaud, Bernard; Turvey, Stuart E; Ward, Leanne M; Wong-Rieger, Durhane; Wright, Nicola A; Yeh, Ann E.

Keywords: Child Health; Data Science; Drug Development; Paediatric Clinical Research Units; Paediatric Clinical Trials; Patient And Public Involvement; Patient Registries; Precision Medicine; Rare Diseases; Real-World Evidence

$19,999,843

Optimizing dosage and CTA-Enabling Pre-clinical Gene Therapy Studies for Creatine Transporter Deficiency

Nominated PICIHR2023Op. Grant :Bringing Rare Disease Gene Therapies to Clinical Trial Readiness- LOI

Principal investigators: Walia, Jagdeep S; Trutoiu, Laura; Alkins, Ryan D

Keywords: Adeno-Associated Virus; Creatine; Creatine Transporter; Focused Ultrasound

A Phase 1/2, Open-Label Clinical Study to Evaluate the Safety and Efficacy of Intrathecal hB-A Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis

Nominated PICIHR2023Operating Grant: Clinical Trials Projects - Indirect Costs

Principal investigators: Walia, Jagdeep S; McMillan, Hugh J

Keywords: Adeno-Associated Virus; Gene Therapy; Gm2 Gangliosidosis; Infantile; Lysosomal Storage Disease

$672,433

An innovative registry-based trials platform to improve clinical care, outcomes, and health policy for children with treatable rare diseases

Co-investigatorCIHR2019Operating Grant: SPOR Innovative Clinical Trial Multi-Year Grant

Principal investigators: Potter, Elizabeth K; McCabe, Christopher; Smith, Maureen M; Binik, Ariella; Chakraborty, Pranesh K; Inbar-Feigenberg, Michal; Mitchell, John J; Offringa, Martin; Oskoui, Maryam; Stockler, Sylvia

Keywords: Comparative Effectiveness; Core Outcomes; Genetic Disease; Innovative Clinical Trial; Orphan Therapy; Patient Partnership; Patient-Oriented Outcomes; Pediatrics; Rare Disease; Registry-Based Randomized Trial

$2,754,009

Designing interventions to improve delivery of health care for children with inherited metabolic diseases: family and provider perspectives

Co-investigatorCIHR2016Project Grant

Principal investigators: Potter, Elizabeth K; Chakraborty, Pranesh K

Keywords: Health Care Coordination; Inherited Metabolic Diseases; Patient Centred Care; Patient-Oriented Research; Pediatrics; Rare Diseases

$738,224

From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.

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Jagdeep Walia

Research

Latest papers

Latest funding

The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study

Characterization of Human Recombinant &#x3b2;1,4-GalNAc-Transferase B4GALNT1 and Inhibition by Selected Compounds.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

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

Mobile element insertion detection in 89,874 clinical exomes.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature

Telocytes as possible precursors of PDGFRA-mutant gastrointestinal mesenchymal tumors-reply to rejoinder.

Frequent collaborators

Pranesh Chakraborty

Jennifer MacKenzie

Doug Coyle

Murray Alexander Potter

Kumanan Wilson

Sylvia Stockler

Michael Geraghty

Monica Taljaard

Peter Kannu

Maureen Smith

Julian Little

Taila Hartley

Inka Brockhausen

Clara van Karnebeek

Martin Offringa

Lawrence Korngut

Xiang-Jiao Yang

Ronald Cohn

Robin Hayeems

Gail Graham

Jodi Warman Chardon

Nomazulu Dlamini

Lauren Chad

Kristin Kernohan

Characterization of Human Recombinant β1,4-GalNAc-Transferase B4GALNT1 and Inhibition by Selected Compounds.