Àngels García‐Cazorla

This study investigates genotype-phenotype correlations in SYNGAP1 Encephalopathy, finding that variant location and type, along with modifier genes, influence clinical severity and autistic traits.

This paper integrates genetic, synaptic, and developmental expression data to show how synaptic characteristics influence clinical phenotypes in neurodevelopmental disorders.

This study characterizes a neurodevelopmental disorder caused by bi-allelic SLC31A1 mutations, showing severe clinical features and mitochondrial dysfunction.

This study uses iPSC-derived dopaminergic neurons to model THD, showing disease-specific phenotypes and treatment responses.