Signe Mosegaard

Integrated Multi-Omics Mapping of Mitochondrial Dysfunction and Substrate Preference in Barth Syndrome Cardiac Tissue

This study analyzes heart tissue from BTHS patients using integrated omics to identify metabolic and mitochondrial changes associated with the disease.

Tracer-based lipidomics identifies novel disease-specific biomarkers in mitochondrial β-oxidation disorders

The paper uses tracer-based lipidomics to identify two new disease-specific biomarkers for mitochondrial β-oxidation disorders, revealing insights into lipid metabolism and potential diagnostic applications.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.