Laura Sophie Kremer

This study investigates tissue-specific effects of TFAM and mtDNA copy number manipulation in mtDNA mutator mice, revealing both beneficial and detrimental outcomes depending on the tissue.

This study investigates the role of BCL2L13 and autophagy in mtDNA purifying selection by analyzing knockout models in mice.

FRASER detects aberrant splicing events in RNA-seq data, identifying pathogenic intron retention and improving sensitivity over z-score methods.

This study develops OCR-Stats, a statistical method to improve the accuracy of mitochondrial respiration measurements from Seahorse XF Analyzer data by addressing noise and variation across plates and wells.

This study uses RNA sequencing to identify genetic diagnoses in mitochondrial disease patients by detecting aberrant gene expression and splicing events.