Yuri A. Zárate

This study shows that reduced Satb2 gene dosage in cortical projection neurons leads to chromatin and circuit defects, causing cognitive and sensory impairments in a mouse model of SATB2-associated syndrome.

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

This study functionally characterizes SATB2 missense variants to identify distinct effects on chromatin binding and transcriptional activity, revealing partial loss-of-function and some variants with increased function.

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

This study investigates Satb2's role in pre-osteoblast proliferation and nuclear integrity, finding it regulates cell cycle progression and DNA replication, with potential implications for skeletal defects and cancer.