Clara Van Karnebeek
Overview
Explore the profile of Clara Van Karnebeek including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
48
Citations
901
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Theberge E, Durbano K, Demailly D, Huby S, Mitina A, Yin Y, et al.
Mov Disord
. 2025 Jan;
PMID: 39854091
Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients...
2.
Brands M, Balfoort B, Acharya K, Bergen A, Brunetti-Pierri N, Buijs M, et al.
Mol Genet Metab
. 2024 Nov;
143(4):108609.
PMID: 39522365
No abstract available.
3.
van de Wal M, Doornbos C, Bibbe J, Homberg J, Van Karnebeek C, Huynen M, et al.
Biochim Biophys Acta Proteins Proteom
. 2024 Oct;
1873(1):141055.
PMID: 39395749
Paediatric Leigh syndrome (LS) is an early-onset and fatal neurodegenerative disorder lacking treatment options. LS is frequently caused by mutations in the NDUFS4 gene, encoding an accessory subunit of mitochondrial...
4.
Chow A, Saad A, Al-Baldawi Z, Iverson R, Skidmore B, Jordan I, et al.
Health Expect
. 2024 Aug;
27(1):e13897.
PMID: 39102737
Introduction: Children with chronic conditions have greater health care needs than the general paediatric population but may not receive care that centres their needs and preferences as identified by their...
5.
Iverson R, Taljaard M, Geraghty M, Pugliese M, Tingley K, Coyle D, et al.
BMC Pediatr
. 2024 Jan;
24(1):37.
PMID: 38216926
Background: Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogenase...
6.
Regier D, Loewen R, Chan B, Ehman M, Pollard S, Friedman J, et al.
Genet Med
. 2024 Jan;
26(4):101069.
PMID: 38205742
Purpose: To determine real-world diagnostic rates, cost trajectories, and cost-effectiveness of exome sequencing (ES) and genome sequencing (GS) for children with developmental and/or seizure disorders in British Columbia, Canada. Methods:...
7.
Friedman J, Bombard Y, Carleton B, Issa A, Knoppers B, Plon S, et al.
Genet Med
. 2023 Nov;
26(2):101033.
PMID: 38007624
This white paper was prepared by the Global Alliance for Genomics and Health Regulatory and Ethics Work Stream's Pediatric Task Team to review and provide perspective with respect to ethical,...
8.
Mohajeri A, Vaseghi-Shanjani M, Rosenfeld J, Yang G, Lu H, Sharma M, et al.
J Med Genet
. 2023 Jun;
60(11):1092-1104.
PMID: 37316189
Background: Helios (encoded by ), a member of the Ikaros family of transcription factors, is a zinc finger protein involved in embryogenesis and immune function. Although predominantly recognised for its...
9.
Edridge A, Namazzi R, Tebulo A, Mfizi A, Deijs M, Koekkoek S, et al.
J Pediatr
. 2023 Feb;
258:113360.
PMID: 36828342
Objectives: To assess whether viral, bacterial, metabolic, and autoimmune diseases are missed by conventional diagnostics among children with severe acute encephalopathy in sub-Saharan Africa. Study Design: One hundred thirty-four children...
10.
Coughlin C, Tseng L, Bok L, Hartmann H, Footitt E, Striano P, et al.
Neurology
. 2022 Aug;
99(23):e2627-e2636.
PMID: 36008148
Background And Objectives: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy characterized by seizure improvement after pyridoxine supplementation. Adjunct lysine reduction therapies (LRTs) reduce the accumulation of putative neurotoxic metabolites...