I am involved in the NeuroWES project, started in 2015, which is an international multi-center project with the purpose of understanding the role of genetics in intellectual disabilities (ID), autism spectrum disorders (ASD) and other neurodevelopmental disorders (NDD). The project is composed of different steps, from the patients sample recruitment, the family-based whole exome sequencing (WES) in collaboration with the Autism Sequencing Consortium (Icahn School of Medicine at Mount Sinai), to the results analysis in order to identify pathogenic or likely pathogenic variants in known genes associated with neurodevelopmental diseases. My main role is to analyze these cases, hopefully identify pathogenic or likely pathogenic variants in gene associated to neurodevelopmental disorders. Moreover, a large part of my work focuses on the identification of new disease-associated genes and gene variants involved in the disease pathogenesis by means of functional analysis experiments on e. g., patients-derived fibroblasts.