Clara D M van Karnebeek
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Explore the profile of Clara D M van Karnebeek including associated specialties, affiliations and a list of published articles.
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146
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2313
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Recent Articles
1.
van Karnebeek C, Muller A, Benkemoun L, Boussaad I, Cornel M, IntHout J, et al.
Mol Genet Metab
. 2025 Mar;
144(4):109073.
PMID: 40086177
Rare diseases affect over 400 million people worldwide, with approved treatment available for less than 6 % of these diseases. Drug repurposing is a key strategy in the development of...
2.
Veldman A, Sikkema-Raddatz B, Derks T, van Karnebeek C, Kiewiet M, Mulder M, et al.
Int J Neonatal Screen
. 2025 Jan;
11(1.
PMID: 39846587
The biomarker-based Dutch Newborn Screening (NBS) panel (as of 2024) comprises 19 inherited metabolic disorders (IMDs). With the use of next-generation sequencing (NGS) as a first-tier screen, NBS could expand...
3.
Karuntu J, Almushattat H, Nguyen X, Plomp A, Wanders R, Hoyng C, et al.
Prog Retin Eye Res
. 2024 Dec;
:101324.
PMID: 39733931
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations...
4.
van Karnebeek C, ODonnell-Luria A, Baynam G, Baudot A, Groza T, Jans J, et al.
Orphanet J Rare Dis
. 2024 Sep;
19(1):357.
PMID: 39334316
Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary...
5.
Muller A, Boot E, Notermans S, Schuengel C, Henneman L, Cornel M, et al.
Orphanet J Rare Dis
. 2024 Sep;
19(1):346.
PMID: 39285396
Background: Advances in understanding the etiology of intellectual disability (ID) has led to insights in potential (targeted) treatments and personalized care. Implications of ID on health are often complex and...
6.
Fuchs C, t Hoen P, Muller A, Ehrhart F, van Karnebeek C
Front Med (Lausanne)
. 2024 Aug;
11:1425038.
PMID: 39135718
Rett syndrome (RTT) and Rett-like syndromes [i.e., CDKL5 deficiency disorder (CDD) and FOXG1-syndrome] represent rare yet profoundly impactful neurodevelopmental disorders (NDDs). The severity and complexity of symptoms associated with these...
7.
Schuurmans I, van Karnebeek C, Hoogendoorn A, Nadif Kasri N, Garanto A
Stem Cell Res
. 2024 Jun;
79:103480.
PMID: 38936157
ALDH7A1 encodes for the enzyme catalyzing the third step of the lysine degradation pathway. Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine dependent epilepsy (PDE), of which the c.1279G>C...
8.
Schuurmans I, van Karnebeek C, Hoogendoorn A, Ribes A, Nadif Kasri N, Garanto A
Stem Cell Res
. 2024 Jun;
79:103481.
PMID: 38924972
GCDH encodes for the enzyme catalyzing the sixth step of the lysine degradation pathway. Autosomal recessive variants in GCDH are associated with glutaric aciduria type I (GA1), of which a...
9.
Hayward B, Kumari D, Santra S, van Karnebeek C, van Kuilenburg A, Usdin K
Sci Rep
. 2024 Jun;
14(1):13772.
PMID: 38877099
The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most...
10.
Adams D, van Karnebeek C, Agullo S, Faundes V, Jamuar S, Lynch S, et al.
Eur J Med Genet
. 2024 Jun;
70:104951.
PMID: 38848991
The International Rare Diseases Research Consortium (IRDiRC) Diagnostic Scientific Committee (DSC) is charged with discussion and contribution to progress on diagnostic aspects of the IRDiRC core mission. Specifically, IRDiRC goals...