Published in Neuron on September 23, 2015
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat Neurosci (2016) 1.78
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. Cell (2016) 1.46
Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2. Neuron (2016) 1.45
Functional significance of rare neuroligin 1 variants found in autism. PLoS Genet (2017) 1.38
The serotonin system in autism spectrum disorder: From biomarker to animal models. Neuroscience (2015) 0.99
The road to precision psychiatry: translating genetics into disease mechanisms. Nat Neurosci (2016) 0.95
Genome-wide characteristics of de novo mutations in autism. NPJ Genom Med (2016) 0.92
Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders. Nat Commun (2016) 0.89
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet (2017) 0.87
Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. Nat Neurosci (2016) 0.87
Genome-wide, integrative analysis implicates microRNA dysregulation in autism spectrum disorder. Nat Neurosci (2016) 0.86
A scored human protein-protein interaction network to catalyze genomic interpretation. Nat Methods (2016) 0.84
Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome. J Neurodev Disord (2016) 0.84
Mental disorders of known aetiology and precision medicine in psychiatry: a promising but neglected alliance. Psychol Med (2016) 0.84
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nat Genet (2017) 0.84
Risk of psychiatric illness from advanced paternal age is not predominantly from de novo mutations. Nat Genet (2016) 0.84
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. Am J Hum Genet (2016) 0.83
The implications of the shared genetics of psychiatric disorders. Nat Med (2016) 0.83
Frequency and Complexity of De Novo Structural Mutation in Autism. Am J Hum Genet (2016) 0.83
Convergence of Sex Differences and the Neuroimmune System in Autism Spectrum Disorder. Biol Psychiatry (2016) 0.83
Neurobiology of social behavior abnormalities in autism and Williams syndrome. Nat Neurosci (2016) 0.81
Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism. PLoS Biol (2016) 0.81
CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment. Mol Autism (2015) 0.81
Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms. Transl Psychiatry (2017) 0.80
Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. Am J Hum Genet (2015) 0.80
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Hum Genet (2016) 0.80
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci (2017) 0.80
Insights into the Neural and Genetic Basis of Vocal Communication. Cell (2016) 0.79
Identification of Vulnerable Cell Types in Major Brain Disorders Using Single Cell Transcriptomes and Expression Weighted Cell Type Enrichment. Front Neurosci (2016) 0.79
Synaptic Actin Dysregulation, a Convergent Mechanism of Mental Disorders? J Neurosci (2016) 0.79
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders. Mol Psychiatry (2016) 0.79
Molecular subtyping and improved treatment of neurodevelopmental disease. Genome Med (2016) 0.79
De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Commun (2016) 0.78
Striatopallidal dysfunction underlies repetitive behavior in Shank3-deficient model of autism. J Clin Invest (2017) 0.78
Pediatric asthma and autism-genomic perspectives. Clin Transl Med (2015) 0.78
Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation. PLoS Genet (2016) 0.78
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. Am J Hum Genet (2016) 0.78
Modeling psychiatric disorders: from genomic findings to cellular phenotypes. Mol Psychiatry (2016) 0.78
The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery. Front Neurosci (2016) 0.77
Deletion of CTNNB1 in inhibitory circuitry contributes to autism-associated behavioral defects. Hum Mol Genet (2016) 0.77
The landscape of DNA methylation amid a perfect storm of autism aetiologies. Nat Rev Neurosci (2016) 0.77
Cumulative Impact of Polychlorinated Biphenyl and Large Chromosomal Duplications on DNA Methylation, Chromatin, and Expression of Autism Candidate Genes. Cell Rep (2016) 0.77
Gender differences in CNV burden do not confound schizophrenia CNV associations. Sci Rep (2016) 0.77
Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression. Mol Autism (2016) 0.77
The Planar Cell Polarity Transmembrane Protein Vangl2 Promotes Dendrite, Spine and Glutamatergic Synapse Formation in the Mammalian Forebrain. Mol Neuropsychiatry (2016) 0.77
Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder. PLoS Genet (2016) 0.77
The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability. Nat Genet (2017) 0.76
Germline Chd8 haploinsufficiency alters brain development in mouse. Nat Neurosci (2017) 0.76
The Pivotal Role of Aldehyde Toxicity in Autism Spectrum Disorder: The Therapeutic Potential of Micronutrient Supplementation. Nutr Metab Insights (2016) 0.76
A systematic variant annotation approach for ranking genes associated with autism spectrum disorders. Mol Autism (2016) 0.76
Defective phosphoinositide metabolism in autism. J Neurosci Res (2016) 0.76
STAMS: STRING-assisted module search for genome wide association studies and application to autism. Bioinformatics (2016) 0.76
A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons. Front Cell Neurosci (2016) 0.76
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort. Sci Rep (2017) 0.75
Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism. Mol Autism (2017) 0.75
Neurogenetic analysis of childhood disintegrative disorder. Mol Autism (2017) 0.75
Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders. J Neurosci Res (2016) 0.75
Motor Stereotypies: A Pathophysiological Review. Front Neurosci (2017) 0.75
A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors. J Neurosci (2017) 0.75
Autism genetics: opportunities and challenges for clinical translation. Nat Rev Genet (2017) 0.75
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. Mol Autism (2017) 0.75
Increased burden of deleterious variants in essential genes in autism spectrum disorder. Proc Natl Acad Sci U S A (2016) 0.75
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. Nat Genet (2017) 0.75
Can Mouse Imaging Studies Bring Order to Autism Connectivity Chaos? Front Neurosci (2016) 0.75
Categorical versus dimensional approaches to autism-associated intermediate phenotypes in 22q11.2 microdeletion syndrome. Biol Psychiatry Cogn Neurosci Neuroimaging (2017) 0.75
An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell (2017) 0.75
Hierarchical cortical transcriptome disorganization in autism. Mol Autism (2017) 0.75
Proteomic Analysis of Post-synaptic Density Fractions from Shank3 Mutant Mice Reveals Brain Region Specific Changes Relevant to Autism Spectrum Disorder. Front Mol Neurosci (2017) 0.75
Quantitative Nucleotide Level Analysis of Regulation of Translation in Response to Depolarization of Cultured Neural Cells. Front Mol Neurosci (2017) 0.75
De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ. J Mol Psychiatry (2016) 0.75
The role of sex-differential biology in risk for autism spectrum disorder. Biol Sex Differ (2016) 0.75
Reversal of social deficits by subchronic oxytocin in two autism mouse models. Neuropharmacology (2015) 0.75
Phenotyping, Etiological Factors, and Biomarkers: Toward Precision Medicine in Autism Spectrum Disorders. J Dev Behav Pediatr (2016) 0.75
Arbaclofen in Children and Adolescents with Autism Spectrum Disorder: A Randomized, Controlled, Phase 2 Trial. Neuropsychopharmacology (2016) 0.75
What Makes You Tic? A New Lead in Tourette Syndrome Genetics. Biol Psychiatry (2016) 0.75
Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape. Curr Genet Med Rep (2016) 0.75
Neurodevelopmental Perspectives on Wnt Signaling in Psychiatry. Mol Neuropsychiatry (2017) 0.75
A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3. Eur J Hum Genet (2016) 0.75
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biol (2017) 0.75
Widespread signatures of positive selection in common risk alleles associated to autism spectrum disorder. PLoS Genet (2017) 0.75
Autism spectrum disorders: an updated guide for genetic counseling. Einstein (Sao Paulo) (2017) 0.75
Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders. Front Mol Neurosci (2017) 0.75
Loss-of-function mutation in Mirta22/Emc10 rescues specific schizophrenia-related phenotypes in a mouse model of the 22q11.2 deletion. Proc Natl Acad Sci U S A (2017) 0.75
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. Mol Autism (2017) 0.75
Cadherin-13 Deficiency Increases Dorsal Raphe 5-HT Neuron Density and Prefrontal Cortex Innervation in the Mouse Brain. Front Cell Neurosci (2017) 0.75
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nat Neurosci (2017) 0.75
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome. Mol Neurobiol (2016) 0.75
Interactive Effects of Prenatal Antidepressant Exposure and Likely Gene Disrupting Mutations on the Severity of Autism Spectrum Disorder. J Autism Dev Disord (2017) 0.75
Schizophrenia and the neurodevelopmental continuum:evidence from genomics. World Psychiatry (2017) 0.75
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci (2017) 0.75
Gene-set analysis shows association between FMRP targets and autism spectrum disorder. Eur J Hum Genet (2017) 0.75
Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations. Hum Mutat (2017) 0.75
Genomic Disorders in Psychiatry-What Does the Clinician Need to Know? Curr Psychiatry Rep (2017) 0.75
Bio-collections in autism research. Mol Autism (2017) 0.75
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Mol Psychiatry (2017) 0.75
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
DAVID: Database for Annotation, Visualization, and Integrated Discovery. Genome Biol (2003) 84.79
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res (2007) 19.07
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet (2006) 11.14
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res (2007) 10.08
De novo gene disruptions in children on the autistic spectrum. Neuron (2012) 9.69
FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell (2011) 8.46
Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting. Nature (2004) 7.42
Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet (2007) 6.75
Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology. PLoS Genet (2011) 6.20
The contribution of de novo coding mutations to autism spectrum disorder. Nature (2014) 5.94
Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron (2011) 5.78
Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet (2013) 5.58
Synaptic, transcriptional and chromatin genes disrupted in autism. Nature (2014) 5.30
The Simons Simplex Collection: a resource for identification of autism genetic risk factors. Neuron (2010) 5.14
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet (1993) 5.09
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet (1999) 4.74
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet (1997) 4.65
The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res (2013) 4.42
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med (1981) 4.25
A framework for the interpretation of de novo mutation in human disease. Nat Genet (2014) 4.00
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet (2010) 3.73
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42
Large-scale discovery of novel genetic causes of developmental disorders. Nature (2014) 3.33
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet (2014) 3.21
Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr (1986) 3.18
De novo rates and selection of large copy number variation. Genome Res (2010) 3.08
CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature (2013) 2.96
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell (2013) 2.94
Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. Cell (2013) 2.87
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet (2014) 2.84
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. Am J Hum Genet (2014) 2.18
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science (2012) 1.65
Excess of rare, inherited truncating mutations in autism. Nat Genet (2015) 1.62
Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun (2014) 1.59
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. PLoS Genet (2014) 1.57
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet (2013) 1.53
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. Lancet Neurol (2013) 1.48
Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genet (2013) 1.48
Copy number variation in schizophrenia in Sweden. Mol Psychiatry (2014) 1.46
Miller-Dieker syndrome: lissencephaly and monosomy 17p. J Pediatr (1983) 1.46
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. Mol Psychiatry (2012) 1.45
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nat Genet (2014) 1.34
Transmission disequilibrium of small CNVs in simplex autism. Am J Hum Genet (2013) 1.26
DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics. Mol Autism (2014) 1.20
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc Natl Acad Sci U S A (2014) 1.16
Autism spectrum disorder severity reflects the average contribution of de novo and familial influences. Proc Natl Acad Sci U S A (2014) 1.16
The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nat Commun (2015) 1.15
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry (2013) 1.12
Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biol Psychiatry (2013) 1.11
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. Cell Rep (2014) 1.10
Genotype to phenotype relationships in autism spectrum disorders. Nat Neurosci (2014) 1.05
Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders. J Neurosci (2014) 0.99
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders. Mol Syst Biol (2014) 0.97
Increased female autosomal burden of rare copy number variants in human populations and in autism families. Mol Psychiatry (2015) 0.96
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet (2014) 2.84
The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders. Neuron (2012) 1.71
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Am J Hum Genet (2013) 1.39
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. Cell Rep (2014) 1.10
Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. Am J Hum Genet (2014) 1.08
A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies. Am J Hum Genet (2016) 0.78
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Mol Autism (2014) 0.76
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci (2017) 0.75
Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci (2020) 0.75