Faculty profile

Sylvia Stockler

ResearcherPediatricsUniversity of British Columbia

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

Sylvia Stockler

Researcher

Pediatrics

Health Sciences

University of British Columbia

Vancouver, British Columbia, Canada

Supervision signals

Has led research grants, which requires an independent research appointment. Ask their department whether they supervise graduate students.
19 publications in the last five years, latest in 2026.
Senior (last) author on 2 recent papers, a sign of leading a research group.
Principal investigator on 3 research grants (3 CIHR), most recently in 2013.
Supervised 2 trainees who won CIHR awards, most recently in 2012.

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.

Academic metrics

Publications

Citations

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Collaborators

Grants

Publications by year

Counts cover the works listed on the university profile; citation counts come from Dimensions.

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Signals and details

Research

Discovery Global Developmental Delay Inborn Errors Of Metabolism Intellectual Disability Knowledge Translation Metabolomics Whole Exome Sequencing

Latest papers

Influence of a 12 week at-home resistance exercise program on 13C-glucose metabolism in patients with metabolic myopathies.
Molecular genetics and metabolism · 2026
Generation of an isogenic human induced pluripotent stem cell line harbouring a CLDN11 mutation associated with hypomyelinating leukodystrophy.
Stem cell research · 2026
The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study
Orphanet Journal of Rare Diseases · 2026

All 57 publications

Latest funding

Probing the Role of Claudin-11 Mutations in Hypomyelinating Leukodystrophy
CIHR · 2024 · Co-investigator
$898,876
Probing the Role of Claudin-11 Mutations in Hypomyelinating Leukodystrophy
CIHR · 2023 · Co-investigator
$100,000
Long QT syndrome in Northern British Columbia: Gene-gene interaction, life course differences, and implications for safe management
CIHR · 2016 · Co-investigator
$677,024

All 8 grants and awards

57 publications.

Influence of a 12 week at-home resistance exercise program on 13C-glucose metabolism in patients with metabolic myopathies.

Plant K, Howard C, Bourdon P, Massarotto RJ, Gamu D, Gibson WT, Stockler S, Brunel-Guitton C, Elango R

Molecular genetics and metabolism2026

DOI: 10.1016/j.ymgme.2025.109714 PMID: 41494358

Generation of an isogenic human induced pluripotent stem cell line harbouring a CLDN11 mutation associated with hypomyelinating leukodystrophy.

Gjervan SC, Sequiera GL, Feng J, Ozgoren O, Van Belois K, Kersey B, Ross C, Klein Geltink R, Stockler S, Pouladi MA

Stem cell research2026

DOI: 10.1016/j.scr.2026.103976 PMID: 41932029

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

Cerliponase alfa therapy leads to long-term seizure freedom in a patient with late infantile neuronal ceroid lipofuscinosis.

Datta AN, Stockler S

Seizure2025Senior author

DOI: 10.1016/j.seizure.2025.08.024 PMID: 40865184

Iron Deficiency and Sleep/Wake Behaviors: A Scoping Review of Clinical Practice Guidelines-How to Overcome the Current Conundrum?

McWilliams S, Hill O, Ipsiroglu OS, Clemens S, Weber AM, Chen M, Connor J, Felt BT, Manconi M, Mattman A, Silvestri R, Simakajornboon N, Smith SM, Stockler S

Nutrients2024Senior author

DOI: 10.3390/nu16152559 PMID: 39125438

Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.

Howie AH, Tingley K, Inbar-Feigenberg M, Mitchell JJ, Angel K, Gentle J, Smith M, Offringa M, Butcher NJ, Campeau PM, Chakraborty P, Chan A, Fergusson D, Mamak E, McClelland P, Mercimek-Andrews S, Mhanni A, Moazin Z, Rockman-Greenberg C, Rupar CA, Skidmore B, Stockler S, Thavorn K, Wyatt A, Potter BK, INFORM RARE Network

Orphanet journal of rare diseases2024

DOI: 10.1186/s13023-024-03364-x PMID: 39443985

Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children.

Birch P, Beauchesne R, Bansback N, Boelman C, Connolly M, Demos M, Friedman JM, Race S, Stockler S, GenCOUNSEL Study, Elliott AM, Adam S

Genetics in medicine : official journal of the American College of Medical Genetics2024

DOI: 10.1016/j.gim.2024.101173 PMID: 38828700

Morquio B disease: a case report.

Gholamian T, Chhina H, Stockler S, Cooper A

Frontiers in pediatrics2024

DOI: 10.3389/fped.2024.1285414 PMID: 38500590

Family‐centred care interventions for children with chronic conditions: A scoping review

Chow AJ, Saad A, Al‐Baldawi Z, Iverson R, Skidmore B, Jordan I, Pallone N, Smith M, Chakraborty P, Brehaut J

Health Expectations202435 citationsOpen Access

DOI: 10.1111/hex.13897 PMID: W4391512486

Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22).

Ozgoren OK, Sequiera GL, Ferrari Bardile C, Gjervan SC, Salman A, Lehman A, Turvey SE, Ross CJD, Stockler S, Pouladi MA

Stem cell research2023

DOI: 10.1016/j.scr.2023.103174 PMID: 37531724

Probing the Role of Claudin-11 Mutations in Hypomyelinating Leukodystrophy

Co-investigatorCIHR2024Project Grant

Principal investigators: Pouladi, Mahmoud

Keywords: Claudin-11; Human Pluripotent Stem Cells; Hypomyelinating Leukodystrophy; Mouse Models; Neurodevelopmental Disorders; Therapeutics

$898,876

Probing the Role of Claudin-11 Mutations in Hypomyelinating Leukodystrophy

Co-investigatorCIHR2023Operating Grant - PA: Genetics (Bridge Funding: Research Priorities)

Principal investigators: Pouladi, Mahmoud

Keywords: Claudin-11; Developmental Delay; Human Pluripotent Stem Cells; Hypomyelinating Leukodystrophy; Mouse Models; Neurodevelopmental Disorders; Therapeutics

$100,000

Long QT syndrome in Northern British Columbia: Gene-gene interaction, life course differences, and implications for safe management

Co-investigatorCIHR2016Project Grant

Principal investigators: Arbour, Laura T

Keywords: Child Health; Community Based Participatory Research; Gene-Gene Interaction; Indigenous Health; Long Qt Syndrome; Population Health

$677,024

Expanding the number of treatable intellectual disabilities through an integrated "-omics" approach

Principal investigatorCIHR2013Operating Grant

Principal investigators: van Karnebeek, Clara D; Stockler, Sylvia; Wasserman, Wyeth W

Keywords: Discovery; Global Developmental Delay; Inborn Errors Of Metabolism; Intellectual Disability; Knowledge Translation; Metabolomics; Whole Exome Sequencing

$772,999

Expanding the number of treatable intellectual disabilities through an integrated "-omics" approach

Principal investigatorCIHR2013Maud Menten New Principal Investigator Prize - Clinical

Principal investigators: van Karnebeek, Clara D; Stockler, Sylvia; Wasserman, Wyeth W

Keywords: Discovery; Global Developmental Delay; Inborn Errors Of Metabolism; Intellectual Disability; Knowledge Translation; Metabolomics; Whole Exome Sequencing

$1,000

Expensive Orphan Drugs and Translational Research in Rare Diseases

SupervisorCIHR2012Doctoral Research Award: Douglas Kinsella Award for Research in Bioethics

Principal investigators: McGuire, Marlene

Keywords: Anthropology Of Pharmaceuticals; Economic Anthropology; Ethnography; Health Policy; Inborn Errors Of Metabolism; Legal Anthropology; Medical Industry Ethics; Orphan Drugs; Rare Diseases; Translational Research

$45,000

Expensive Orphan Drugs and Translational Research in Rare Diseases

SupervisorCIHR2012Doctoral Award - Frederick Banting and Charles Best Canada Graduate Scholarships

Principal investigators: McGuire, Marlene

$150,000

Sapropterin for treatment of patients with Phenylketonuria: Identification of subpopulations with substantial clinical benefit

Nominated PICIHR2011Catalyst Grant: Post Market Drug Safety and Effectiveness

Principal investigators: Stockler, Sylvia

Keywords: Children; Clinical Benefit; Expensive Drug For Rare Disease; Funding To Create Evidence; Kuvan; Outcome; Phenylketonuria; Sapropterin Dihydrochloride

$98,000

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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Sylvia Stockler

Research

Latest papers

Latest funding

Influence of a 12&#xa0;week at-home resistance exercise program on 13C-glucose metabolism in patients with metabolic myopathies.

Generation of an isogenic human induced pluripotent stem cell line harbouring a CLDN11 mutation associated with hypomyelinating leukodystrophy.

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

Cerliponase alfa therapy leads to long-term seizure freedom in a patient with late infantile neuronal ceroid lipofuscinosis.

Iron Deficiency and Sleep/Wake Behaviors: A Scoping Review of Clinical Practice Guidelines-How to Overcome the Current Conundrum?

Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.

Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children.

Morquio B disease: a case report.

Family‐centred care interventions for children with chronic conditions: A scoping review

Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22).

Frequent collaborators

Pranesh Chakraborty

Kumanan Wilson

Doug Coyle

Maureen Smith

Martin Offringa

Julian Little

Clara van Karnebeek

Jennifer MacKenzie

Monica Taljaard

Murray Alexander Potter

Robin Hayeems

Rajavel Elango

Jagdeep Walia

Anne-Marie Laberge

Brian Hutton

Eyal Cohen

Jamie Brehaut

Lawrence Korngut

Maja Tarailo-Graovac

Maureen Smith

Osman Ipsiroglu

Kathy Speechley

Meranda Nakhla

Myriam Srour

Nancy Butcher

Kednapa Thavorn

Ramon Klein Geltink

Philippe Major

Stuart Nicholls

Colin Ross

Dean Fergusson

Lionel Carmant

Astrid Guttmann

Linda Dodds

Zoha Kibar

Influence of a 12 week at-home resistance exercise program on 13C-glucose metabolism in patients with metabolic myopathies.