Publications

The complex genetics underlying autism spectrum disorder (ASD) encompass a diverse array of pathological mechanisms that remain incompletely understood. Globally, the prevalence of ASD is estimated to be 1 in 132 individuals. However, in India, where a comprehensive nationwide study is lacking, smaller community studies have reported an ASD incidence of approximately 1 in 450 individuals aged 1.5-10 years. While numerous population studies have conducted extensive exome analyses, identifying hundreds of causal genes, there is limited research focused on Indian subjects. However, there is a pressing need to understand the intricate molecular mechanisms responsible for the pathogenesis of ASD. Hence, to address this gap the study adapted integrated functional analysis to identify risk genes and their temporal expression pattern to understand their role during critical period of brain development.