Katharina Schulze

The paper demonstrates that recurrent genomic deletions mediated by nonallelic homologous recombination drive recessive disease burden and identifies new disease-contributing variants through exome reanalysis.

The paper finds that genes with higher frequencies of CGN arginine codons are more likely to be associated with genetic disorders, particularly dominant conditions.

This study uses DNA methylation analysis to identify diagnostic biomarkers and pathogenic mechanisms in diabetic embryopathy.