Eduardo Fidel Tizzano

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes

This paper identifies that truncating variants in KAT6A cause two distinct neurodevelopmental disorders with opposing gene regulatory and metabolic effects, highlighting the need for variant-level stratification in therapy development.

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture

This study identifies RSG1/CPLANE2 as a causative gene for human ciliopathy and shows its role in ciliary transition zone assembly.

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy

The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.