Jeroen Essers

This study generates and characterizes induced pluripotent stem cell models with SMAD3 mutations to investigate LDS3 aneurysm formation mechanisms.

This study investigates the functional impact of SMAD3 variants in patient-derived cells, showing distinct effects of dominant negative and haploinsufficient variants on disease manifestations and age of onset.

This paper develops a long-deletion mouse model of Williams syndrome to study vascular and neural phenotypes, finding that Ncf1 modulates both cardiovascular and neuropsychological symptoms.

This paper investigates the role of BRCA2's meiotic domain in meiotic homologous recombination and proposes a model of chromosome pairing through tensed DNA tethers.

This paper identifies a cryptic BRCA2 repeated motif that binds to HSF2BP oligomers but does not affect meiotic recombination.

This study generates a novel mouse model of arterial tortuosity syndrome by knocking out Slc2a10 and Gulo, revealing mitochondrial respiration defects and compromised extracellular matrix formation.

The paper shows that low-dose ionizing radiation stimulates insertional mutagenesis in a γH2AX-dependent manner in human and mouse cells.