Laura Steenpaß

This study uses stem cell-derived cerebellar organoids to model Angelman syndrome, revealing impaired development and neuronal dysfunction in cerebellar cells.

The paper generates an iPSC collection with CNM mutations using base editing and evaluates off-target effects via whole genome sequencing.

This study shows that transcription across the PWS-SRO is necessary but not sufficient for de novo DNA methylation at the PWS/AS locus, requiring differentiation-dependent cues.

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

The paper screens human cell lines for SARS-CoV-2 permissiveness by analyzing ACE2 and TMPRSS2 expression and finds that receptor expression alone does not guarantee viral infection.