Kornelia Neveling

9PUBLICATIONS
275CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesGene mappingSensory systemsRegenerative medicine (incl. stem cells)
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Publications (9)

|Jul 28, 2026
Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

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

|Mar 28, 2026
Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.

Laura Batlle-Masó, Kornelia Neveling, Johana Gil-Serrano

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Jan 06, 2026
Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Vicente A Yépez, German Demidov, Kornelia Ellwanger

|Sep 09, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Vicente A Yépez, German Demidov, Kornelia Ellwanger

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Frequent Collaborators

6 joint publications

Alexander Hoischen

5 joint publications

Lisenka E L M Vissers

5 joint publications

Christian Gilissen

4 joint publications

German Demidov