Author

Steffen Berweck

Ostschweizer Kinderspital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alexandra Sitzberger· 1 shared Alice SaparoviD· 1 shared Ann‐Kathrin Jaroszynski· 1 shared Anne KoyiD· 1 shared Antonia Margarethe StehriD· 1 shared Ava Oberlack· 1 shared Birgit E. AssmanniD· 1 shared Christian MertesiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexandra Sitzberger

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1 paper

Recent·Most cited

Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohort

Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian R. Hölzlwimmer, Elisabetta Indelicato, Birgit E. Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brügger, Kevork Derderian, Felix Distelmaier, Philip Harrer, , Michael Zech

The paper uses fibroblast RNA-seq to improve molecular diagnosis in dystonia patients by identifying RNA expression and splicing defects missed by genomic sequencing.

Annals of Neurology · Feb 2, 2026Peer-reviewedGenetic & Genomic Medicine