Paper
The study investigates the role of structural variations (SVs) in the genetic etiology of Autism Spectrum Disorder (ASD) and language impairments. Analyzing the New Jersey Language and Autism Genetics Study (NJLAGS) cohort, it identifies significant SVs affecting 344 brain-expressed genes. These SVs, including copy number variants (CNVs), insertions, deletions, and duplications, show expected segregation or de novo patterns. Gene Ontology and protein–protein interaction network analyses reveal clusters of genes involved in neuronal development and histone modification, enhancing the understanding of ASD's genetic factors.
