Me and my team are eager to understand how genomic variation affects extracellular matrix assembly and homeostasis and, in turn, how changes in the extracellular matrix define tissue and organ faith, especially of the skin, arteries, skeleton, and brain. We leverage this knowledge to work towards therapies for monogenic and multifactorial (rare) diseases. As a clinician I developed a special interest for dysmorphology, nephro-, dermato- and cardiogenetics. Research projects on gene discovery, phenotype delineation and translation of novel molecular techniques into diagnostic approaches are directly linked to my clinical activity.