Anna Jansen

Long-read genome sequencing resolves complex structural variants in exome-negative developmental and epileptic encephalopathy

This study evaluates the diagnostic value of long-read genome sequencing in DEE patients, finding it particularly effective for resolving complex structural variants not detected by short-read sequencing.

The Female Side of Autism: Sexual Dichotomies impacting the Helsmoortel-Van der Aa syndrome pathology.

This study investigates how biological sex influences the behavioural, molecular, and therapeutic responses in a mouse model of Helsmoortel-Van der Aa syndrome, finding sex-dependent differences in molecular pathways and treatment response.

Stratigraphic Paleobiology of Carbonate Systems

Simulated tropical carbonate platforms and temperate ramps under identical sea-level forcing yield different fossil records: platform tops push apparent extinctions into transgressive tracts, while ramp unconformity bias fades gradually offshore.

Lipid transport is necessary for neocortical lamination

The paper investigates BLTP1's role in neocortical lamination by analyzing patients and mouse models, finding lipid transport defects cause structural brain abnormalities.