Substantial role for biallelic mutations in autism risk, particularly in females Timothy Yu and colleagues analyzed exome sequencing data to estimate that recessive mutations contribute to approximately 5 percent of all cases of autism, including 10 percent of females.
A genome-wide assessment of noncoding risk variants in autism Olga Troyanskaya, Robert Darnell and colleagues applied deep-learning methods to whole-genome sequencing data from SSC families and identified a clear enrichment for de novo noncoding variation in ASD.
Neurons from individuals with SHANK2-associated autism exhibit increased neuronal connectivity James Ellis and colleagues used a sparse co-culture system for iPSC-derived cortical neurons to assess neuronal connectivity, demonstrating increased connectivity in SHANK2-mediated ASD.
Development of a single-cell mouse cortical gene expression pattern resource that identifies putative brain disorder subtypes Mark Zylka and colleagues generated single-cell RNA-seq data from wild-type mouse cortex during early development and demonstrated how such a resource can be used to identify putative brain disorder subtypes based on expression profiles.
Cryptic splice mutations: A major new source of risk variants for neurodevelopmental disorders Kyle Kai-How Farh and Stephan Sanders developed a deep-learning method to predict risk mutations that affect mRNA splicing and contribute substantially to neurodevelopmental disorders.
Impaired reward circuitry during voice processing predicts social communication abilities in autism Vinod Menon and colleagues report that a difference in the activation of a voice-processing network comprising reward and salience detection systems is a distinguishing feature of autism.
Largest genome-wide association study yields common variants associated with risk of autism Mark Daly and colleagues report the results of a large genome-wide association meta-analysis of more than 18,000 individuals with ASD, including the newly genotyped Danish iPSYCH cohort.
Meta-analysis of de novo mutations yields longer list of risk genes for neurodevelopmental disorders Evan Eichler and colleagues performed a meta-analysis of de novo mutations from individuals with ASD, intellectual disability or developmental delay and found new risk genes for neurodevelopmental disorders.