Bernhard Horsthemke

The paper systematically analyzes chrX genes to predict disease associations, identifying 235 genes likely involved in disorders and reporting damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism.

The paper investigates DNA methylation patterns in sperm from infertile men and finds that somatic DNA contamination and genetic variation, rather than recurrent epimutations, explain observed methylation abnormalities.

wg-blimp is an end-to-end pipeline for whole genome bisulfite sequencing data analysis that improves upon existing tools by offering a comprehensive workflow and interactive interface, validated on public datasets.

This study shows that preovulatory aging in mice reduces fertilization rates and causes early genome activation in embryos.