Marc Sturm

23PUBLICATIONS
340CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesGene mappingMolecular evolutionCancer diagnosis
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Publications (23)

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

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|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

|Jun 13, 2025
Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.

Joohyun Park, Claudia Dufke, Zofia Fleszar

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

Steven Laurie, Wouter Steyaert, Elke de Boer

|Dec 06, 2024
A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations.

Natalia Borbaran Bravo, Ekaterina Deordieva, Larissa Doll

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Frequent Collaborators

13 joint publications

Tobias Haack

8 joint publications

Olaf Riess

6 joint publications

German Demidov

6 joint publications

Stephan Ossowski