Holm Graessner

22PUBLICATIONS
177CO-AUTHORS
Major global burdens of diseaseGene mappingHealth informatics and information systemsRegenerative medicine (incl. stem cells)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (22)

|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

|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

|Apr 08, 2025
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.

German Demidov, Steven Laurie, Annalaura Torella

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Frequent Collaborators

10 joint publications

Sergi Beltran

10 joint publications

Steven Laurie

9 joint publications

Matthis Synofzik

6 joint publications

Kornelia Ellwanger