Reiner Siebert

The paper identifies 21 candidate haploinsufficient genes associated with congenital heart disease through integrative analysis of CNVs and DNMs in CHD cases and controls.

This study identifies RFX7 as a p53-regulated tumor suppressor that activates key genes involved in cell differentiation and apoptosis in response to stress.

This study identifies MDM4 as a critical target of 1q gain in TP53wt Burkitt lymphoma, showing its role in evading cell cycle arrest and highlighting its therapeutic potential.

ACEseq estimates allele-specific copy numbers, tumor purity, ploidy, and homologous recombination deficiency scores from tumor whole-genome sequencing by combining GC-bias correction, replication-timing correction, and structural variant breakpoints.