Large-scale discovery of novel genetic causes of developmental disorders

Up to half of children with severe developmental disordersof probable genetic origin remain without a genetic diagnosis; here, in a systematic and nationwide study of 1,133 children with severe, undiagnosed developmental disorders, and their parents, exome sequencingand array-based detection of chromosomal rearrangementsreveals novel genes causing developmental disorders, increasing the proportion of children that can now be diagnosed to 31%.