Kornelia Ellwanger

15PUBLICATIONS
139CO-AUTHORS
Paediatrics not elsewhere classifiedNeurology and neuromuscular diseasesRegenerative medicine (incl. stem cells)Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (15)

|Jul 18, 2026
Beyond Ocular Malformations: RARB Variants Presenting as Isolated Pediatric Movement Disorder.

|Jul 15, 2026
Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework.

|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

|Jun 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Steven Laurie, Wouter Steyaert, Elke de Boer

|Jan 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Steven Laurie, Wouter Steyaert, Elke de Boer

Pageof 3

Frequent Collaborators

7 joint publications

Sergi Beltran

7 joint publications

Christian Gilissen

6 joint publications

Holm Graessner

6 joint publications

Steven Laurie