Wolfram S. Kunz

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

The paper investigates the role of mitochondrial DNA repeats in aging and healthspan, finding that disrupting the common repeat reduces somatic deletions and improves healthspan.

The paper analyzes the mitochondrial mutation spectrum in chordates, identifying three main mutation signatures and their underlying causes, with implications for age-related disease prevention.

The paper identifies a contact zone in the human mitochondrial genome where deletions are more likely, linking it to aging and lifespan.

The paper identifies an AH>GH substitution signature in mtDNA linked to aging and TSSS, showing higher frequency in species with longer generation lengths.

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

This study identifies ultra-rare genetic variants associated with different epilepsy types using whole-exome sequencing in 17,634 individuals.

The paper challenges previous interpretations of biparental mtDNA inheritance, proposing a model where paternal mtDNA undergoes selective fixation due to initial low copy number and a selective advantage.