Rutger W. W. Brouwer

The paper investigates the cis-regulatory landscape of DACT2 and SMOC2 in developing synovial joints using chromatin capture and enhancer assays.

The paper investigates variants in MAU2 and NIPBL in CdLS, showing NIPBL haploinsufficiency as the main cause and revealing a protective mechanism for NIPBL out-of-frame mutations.

The paper investigates genetic and environmental factors contributing to the co-occurrence of esophageal atresia and infantile hypertrophic pyloric stenosis, finding a significant association with a risk SNP but no clear single genetic cause.

This paper describes the 3D chromatin architecture of human and mouse genomes at multiple scales, showing its dynamic organization and co-evolution with DNA sequence.