Elisabeth Graf

5PUBLICATIONS
45CO-AUTHORS
NanomanufacturingNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Neurogenetics
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Publications (5)

|Sep 08, 2026
Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

|Aug 14, 2026
Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

|Sep 26, 2025
Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing.

Martin Krenn, Matias Wagner, Helena Schuller

|May 09, 2025
Holistic Exome-Based Genetic Testing in Adults With Epilepsy.

Martin Krenn, Matias Wagner, Karin Trimmel

|Oct 03, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.

Bernt Popp, Melanie Brugger, Sibylle Poschmann

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Frequent Collaborators

5 joint publications

Matias Wagner

4 joint publications

Juliane Winkelmann

4 joint publications

Theresa Brunet

3 joint publications

Melanie Brugger