Clara van Karnebeek

17PUBLICATIONS
219CO-AUTHORS
Neurology and neuromuscular diseasesGenetic immunologyElectrical energy generation (incl. renewables, excl. photovoltaics)Molecular targetsImmunogenetics (incl. genetic immunology)
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Publications (17)

|Jul 17, 2026
NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

|Jun 01, 2026
Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

|Mar 30, 2026
Serum NfL, GFAP, and p-tau217 in adults with drug-resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury.

Hadassa Kwetsie, Inge M W Verberk, Jans S van Ool

|Nov 12, 2025
New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse.

Clara D M van Karnebeek, Valérie Gailus-Durner, Udo F Engelke

|Sep 19, 2025
Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Mehul Sharma, Simran Samra, Yihui Liu

|Jul 31, 2025
ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma.

Maggie P Fu, Mehul Sharma, Pariya Yousefi

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Frequent Collaborators

5 joint publications

Wyeth W Wasserman

4 joint publications

Stuart E Turvey

4 joint publications

Catherine M Biggs

4 joint publications

Mehul Sharma