Bernd Wollnik

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

This study shows that BLM helicase is essential for resolving ultrafine DNA bridges during mitosis, preventing genomic instability.

This study shows that BTRR complex deficiency increases genomic instability through copy number alterations, enriched at fragile sites, using CRISPR-edited iPSC models.

The paper analyzes clinical and mechanistic data from individuals with ACTB/ACTG1 variants to identify distinct disease phenotypes and molecular mechanisms of non-muscle actinopathies.

This study reports clinical and molecular findings of eight Bloom syndrome patients, identifying BLM and RMI1 mutations and highlighting phenotypic differences between BLM- and RMI1-associated cases.

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.

This paper shows that methotrexate inhibits SARS-CoV-2 replication in cell cultures and synergizes with remdesivir, suggesting potential for repurposing MTX in treating COVID-19.

The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.