Holm Graessner

23PUBLICATIONS
187CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Major global burdens of diseaseGene mappingHealth informatics and information systemsGene expression (incl. microarray and other genome-wide approaches)
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Publications (23)

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

|Apr 14, 2026
European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.

Holm Graessner, Sophie Ripp, Alberto M Pereira

|Feb 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Benita Menden, Rana D Incebacak Eltemur, German Demidov

|Jan 31, 2026
KLINSE: a comprehensive service model for rare disease information and care management support.

Katrin Jäger, Elke Dannenmann-Stern, Sevda Inbasi

|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

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

Lennart F Johansson, Steve Laurie, Dylan Spalding

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Frequent Collaborators

10 joint publications

Sergi Beltran

10 joint publications

Steven Laurie

9 joint publications

Matthis Synofzik

7 joint publications

Lisenka E L M Vissers