Faculty profile

Clara van Karnebeek

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.

Clara van Karnebeek

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.
9 publications in the last five years, latest in 2026.
Senior (last) author on 1 recent paper, a sign of leading a research group.
Principal investigator on 2 research grants (2 CIHR), most recently in 2013.

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

474

Citations

h-index

Collaborators

Grants

Publications by year

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

Profiles and links

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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

Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review.
JIMD reports · 2026
A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.
Journal of clinical immunology · 2025
Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.
Movement disorders : official journal of the Movement Disorder Society · 2025

All 33 publications

Latest funding

Characterization and treatment of a novel conditional mouse model of pyridoxine-dependent epileptic encephalopathy caused by antiquitin mutations.
CIHR · 2020 · Co-investigator
$612,000
Development, characterization and treatment of a novel conditional mouse model of pyridoxine-dependent epileptic encephalopathy caused by antiquitin mutations.
CIHR · 2018 · Co-investigator
$100,000
Designing interventions to improve delivery of health care for children with inherited metabolic diseases: family and provider perspectives
CIHR · 2016 · Co-investigator
$738,224

All 5 grants and awards

33 publications.

Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review.

Shurrab S, Mobarak A, Horvath G, Stocker-Ipsiroglu S, van Karnebeek C, Salvarinova-Zivkovic R

JIMD reports2026

DOI: 10.1002/jmd2.70102 PMID: 42371568

A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.

Lu HY, Vaseghi-Shanjani M, Lam AJ, Sharma M, Mohajeri A, Silva LBR, Gillies J, Yang GX, Lin S, Fu MP, Salman A, Rahmanian R, Armstrong L, Halparin J, Yang CL, Chilvers M, Henkelman E, Rehmus W, Morrison D, Setiadi A, Mostafavi S, Kobor MS, Kozak FK, Biggs CM, van Karnebeek C, Hildebrand KJ, Anna Lehman on behalf of the Care4Rare Canada Consortium, Levings MK, Turvey SE

Journal of clinical immunology2025

DOI: 10.1007/s10875-025-01882-2 PMID: 40295428

Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.

Théberge ET, Durbano K, Demailly D, Huby S, Mitina A, Yin Y, Mohajeri A, Care4Rare Canada Consortium, van Karnebeek C, Horvath GA, Yuen RKC, Usdin K, Lehman A, Cif L, Richmond PA

Movement disorders : official journal of the Movement Disorder Society2025

DOI: 10.1002/mds.30101 PMID: 39854091

Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada.

Regier DA, Loewen R, Chan B, Ehman M, Pollard S, Friedman JM, Stockler-Ipsiroglu S, van Karnebeek C, Race S, Elliott AM, Dragojlovic N, Lynd LD, Weymann D

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

DOI: 10.1016/j.gim.2024.101069 PMID: 38205742

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Iverson R, Taljaard M, Geraghty MT, Pugliese M, Tingley K, Coyle D, Kronick JB, Wilson K, Austin V, Brunel-Guitton C

BMC Pediatrics20244 citationsOpen Access

DOI: 10.1186/s12887-023-04393-4 PMID: W4390840255

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Turvey SE, Lehman A

Journal of medical genetics2023

DOI: 10.1136/jmg-2022-109127 PMID: 37316189

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.

Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM, van Karnebeek C, International PDE Consortium

Neurology2022Senior author

DOI: 10.1212/wnl.0000000000201222 PMID: 36008148

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, Alderman E, Armstrong L, Aubertin G, Blood K, Boelman C, Boerkoel C, Bretherick K, Brown L, Chijiwa C, Clarke L, Couse M, Creighton S, Watts-Dickens A, Gibson WT, Gill H, Tarailo-Graovac M, Hamilton S, Heran H, Horvath G, Huang L, Hulait GK, Koehn D, Lee HK, Lewis S, Lopez E, Louie K, Niederhoffer K, Matthews A, Meagher K, Peng JJ, Patel MS, Race S, Richmond P, Rupps R, Salvarinova R, Seath K, Selby K, Steinraths M, Stockler S, Tang K, Tyson C, van Allen M, Wasserman W, Mwenifumbo J, Friedman JM

HGG advances2022

DOI: 10.1016/j.xhgg.2022.100108 PMID: 35599849

Families’ healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study

Chow AJ, Iverson R, Lamoureux M, Tingley K, Jordan I, Pallone N, Smith M, Al-Baldawi Z, Chakraborty P, Brehaut J

BMJ Open20222 citationsOpen Access

DOI: 10.1136/bmjopen-2021-055664 PMID: W4213002216

Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, Canada.

Cook CB, Dragojlovic N, Siemens A, Adam S, du Souich C, van Karnebeek C, Lehman A, Nelson TN, Friedman J, CAUSES Study, GenCOUNSEL Study, Lynd LD, Elliott AM

European journal of medical genetics2021

DOI: 10.1016/j.ejmg.2020.104024 PMID: 32798762

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Clara van Karnebeek

Research

Latest papers

Latest funding

Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review.

A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.

Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.

Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada.

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Families’ healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study

Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, Canada.

Characterization and treatment of a novel conditional mouse model of pyridoxine-dependent epileptic encephalopathy caused by antiquitin mutations.

Development, characterization and treatment of a novel conditional mouse model of pyridoxine-dependent epileptic encephalopathy caused by antiquitin mutations.

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

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

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

Frequent collaborators

Sylvia Stockler

Jennifer MacKenzie

Kumanan Wilson

Pranesh Chakraborty

Murray Alexander Potter

Sara Mostafavi

Maryam Vaseghi-Shanjani

Julian Little

Doug Coyle

Monica Taljaard

Mark Tarnopolsky

Kathy Speechley

Jaime Guzman

Maureen Smith

Bekim Sadikovic

Jagdeep Walia

Britt Drogemoller

Taila Hartley

Francois Bernier

Ann Jolly

Michael Geraghty

Tracy Stockley

Wyeth Wasserman

Millan Patel

Colin Ross

Mariya Kozenko

Eyal Cohen

Jamie Brehaut