Diana Sánchez-Ponce

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.

EHMT2 LOSS-OF-FUNCTION ALTERATIONS CAUSE A KLEEFSTRA-LIKE SYNDROME

The paper identifies a de novo EHMT2 mutation causing a Kleefstra-like syndrome by reducing enzyme activity and altering epigenetic profiles.

Human outperform mouse Purkinje cells in dendritic complexity and computational capacity

The paper compares human and mouse Purkinje cells, finding human cells have greater dendritic complexity and computational capacity.

Stellate cell computational modelling predicts signal filtering in the molecular layer circuit of cerebellum

The paper uses computational modeling to show cerebellar stellate cells act as delay-high-pass filters, shaping Purkinje cell responses and circuit dynamics.