Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
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Summary
The largest exome sequencing study of autism spectrum disorder (ASD) to date, using an enhanced analytical framework to integrate de novo and case-control rare variation, identifies 102 risk genes at a false discovery rate of 0.1 or less.
- Type
- article
- Published
- 2019-04-13
- Cited by
- 2,047
- References
- 156
- Access
- Open access
- OpenAlex
- https://openalex.org/W2955503846
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:210860620
Keywords
Biology, Exome sequencing, Autism, Exome, Neuroscience
References
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Cited by
- Autism spectrum disorder
- CRISPR/Cas9-Induced Inactivation of the Autism-Risk Gene setd5 Leads to Social Impairments in Zebrafish
- Covariance-based sample selection for heterogeneous data: Applications to gene expression and autism risk gene detection
- Single-Cell Analysis of Foxp1-Driven Mechanisms Essential for Striatal Development
- Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior
- Cortical Foxp2 supports behavioral flexibility and developmental dopamine D1 receptor expression
- The autism-associated gene Scn2a contributes to dendritic excitability and synaptic function in prefrontal cortex
- Convergence of Spectrums: Neuronal gene network states in Autism spectrum disorder
- Memo1 Mediated Tiling of Radial Glial Cells Facilitates Cerebral Cortical Development
- Genome-wide, integrative analysis implicates circular RNA dysregulation in autism and the corresponding circular RNA-microRNA-mRNA regulatory axes
- Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify candidate risk genes and biological pathways
- Probing disrupted neurodevelopment in autism using human stem cell-derived neurons and organoids: An outlook into future diagnostics and drug development
- In vivo Perturb-Seq reveals neuronal and glial abnormalities associated with autism risk genes
- Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction
- Exome-wide assessment of the functional impact and pathogenicity of multi-nucleotide mutations
- Characterizing the dynamic and functional DNA methylation landscape in the developing human cortex
- A Chromatin Accessibility Atlas of the Developing Human Telencephalon
- VariCarta: A Comprehensive Database of Harmonized Genomic Variants Found in Autism Spectrum Disorder Sequencing Studies
- SUSD4 Controls Activity-Dependent Degradation of AMPA Receptor GLUA2 and Synaptic Plasticity
- Systematic phenomics analysis of autism-associated genes reveals parallel networks underlying reversible impairments in habituation
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