Rare variants and the oligogenic architecture of autism

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Recent ultra-rare inherited variants implicate new autism candidate risk genes

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Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism

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Paternally inherited cis-regulatory structural variants are associated with autism

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Case-control meta-analysis of blood DNA methylation and autism spectrum disorder

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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

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Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

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Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

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Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

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Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

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Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV

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Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder

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Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders

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Genome-wide characteristics of de novo mutations in autism

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Whole-genome sequencing of quartet families with autism spectrum disorder

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Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

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A Genotype-First Approach to Defining the Subtypes of a Complex Disease

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Synaptic, transcriptional and chromatin genes disrupted in autism

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The contribution of de novo coding mutations to autism spectrum disorder

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Refining analyses of copy number variation identifies specific genes associated with developmental delay

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Most genetic risk for autism resides with common variation

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Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

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Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

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Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

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Individual common variants exert weak effects on the risk for autism spectrum disorders

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Patterns and rates of exonic de novo mutations in autism spectrum disorders

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

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De Novo Gene Disruptions in Children on the Autistic Spectrum

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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

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A copy number variation morbidity map of developmental delay

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Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

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Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

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Functional impact of global rare copy number variation in autism spectrum disorders

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Characteristics and Concordance of Autism Spectrum Disorders Among 277 Twin Pairs

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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

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Structural Variation of Chromosomes in Autism Spectrum Disorder

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A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism

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