Julia Schmidt

This study identifies unique mtDNA mutation patterns in TOP3A-deficient cardiomyocytes, linking mtDNA instability to mitochondrial dysfunction in cardiac disease.

The paper develops pathway-specific polygenic scores to predict lithium treatment response in bipolar disorder and finds associations with specific biological pathways.

This study uses single-cell transcriptome analysis to show that BLM deficiency in Bloom syndrome patients alters gene expression related to mitosis, genomic instability, and condensin complexes.

This study introduces a novel single-cell RNA-sequencing platform and applies it to analyze genotype-phenotype relationships in ageing disorders.