I am involved in the study of genes and pathogenic mechanisms involved in neurodevelopmental disorders. In 2015, our group started the NeuroWES project, an international multi-center study with the aim of understanding the role of genetics in intellectual disabilities, autism spectrum disorders and other neurodevelopmental diseasesWe recruited more than 800 samples from a network of clinical units in the Piedmont area, and performed family-based whole exome sequencing (WES) in collaboration with the Autism Sequencing Consortium (Icahn School of Medicine at Mount Sinai). Genetic data are sent back to our laboratory, where they are analysed using specific pipelinesI initially identify pathogenic/likely pathogenic variants in known mendelian genes associated to neurodevelopmental disorders. So far, my diagnostic success rate is 25-30%. In about 45% of the remaining cases, I was able to find variants of unknown significance (VUS) in diseases-associated genes or in new candidate genes. A large part of our research is spent into the analysis of these cases, with functional characterization of VUS and description of novel disease-associated genes.