Melanie Brugger

16PUBLICATIONS
176CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesNeurogeneticsGene mapping
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Publications (16)

|Jul 01, 2026
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

|Feb 02, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Alice Saparov, Ivana Dzinovic, Theresa Brunet

|Jul 01, 2025
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

Sarah M Brooker, Maria Novelli, Robert Coukos

|Jun 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann

|Jun 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

Maureen Jacob, Heike Kölbel, Philip Harrer

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

Martin Krenn, Matias Wagner, Karin Trimmel

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Frequent Collaborators

12 joint publications

Theresa Brunet

9 joint publications

Matias Wagner

4 joint publications

Eva M C Schwaibold

3 joint publications

Rami Abou Jamra