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