Kornelia Ellwanger

15PUBLICATIONS
139CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)GenomicsGene mapping
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Publications (15)

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

|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

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

Steven Laurie, Wouter Steyaert, Elke de Boer

|Sep 20, 2024
An interconnected data infrastructure to support large-scale rare disease research.

Lennart F Johansson, Steve Laurie, Dylan Spalding

|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Wouter Steyaert, Lydia Sagath, German Demidov

|Nov 05, 2023
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.

David Lagorce, Emeline Lebreton, Leslie Matalonga

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Frequent Collaborators

7 joint publications

Sergi Beltran

7 joint publications

Christian Gilissen

6 joint publications

Holm Graessner

6 joint publications

Steven Laurie