Gökhan Yigit

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

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

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.