I am Head of Department of Clinical Genetics at LUMC. In this department, about 130 staff work together to provide optimal Clinical Genetics care (both via our outpatient clinic and via our diagnostic laboratory).
Besides my work as department head, I work as a Clinical Geneticist with focus on prenatal diagnostics, and I also run the Coffin-Siris syndrome expertise centre. Within this expertise centre, we see patients with this syndrome from all over the Netherlands, and sometimes beyond, in multidisciplinary settings. My scientific research also focuses on these 2 spearheads.

I am also a member of the management team of the research theme Medical Genomics, member of the board of the Dutch Society for Human Genetics.

My research has 2 focus areas: intellectual disability, in particular Coffin-Siris syndrome and related disorders, and genetic diagnostics during pregnancy.
Coffin-Siris syndrome is one of the most common causes of intellectual disability. Within the LUMC centre of expertise, we conduct research on the clinical manifestations of the different subtypes of this syndrome, on the course of the syndrome and prognostic factors, on the underlying cellular mechanisms, up to and including clinical studies.
Genetic diagnosis during pregnancy has undergone tremendous development. A national study is currently under way in which we are investigating the consequences of the new possibilities, and how to make optimal use of them. We are also looking for methods to reduce the number of variants with unclear significance.