Published in PLoS Genet on August 15, 2013
Synaptic, transcriptional and chromatin genes disrupted in autism. Nature (2014) 5.30
Rare-variant association analysis: study designs and statistical tests. Am J Hum Genet (2014) 3.42
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell (2013) 2.94
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron (2015) 1.91
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat Neurosci (2016) 1.78
Gene hunting in autism spectrum disorder: on the path to precision medicine. Lancet Neurol (2015) 1.62
The discovery of integrated gene networks for autism and related disorders. Genome Res (2014) 1.35
Prioritization of neurodevelopmental disease genes by discovery of new mutations. Nat Neurosci (2014) 1.21
The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nat Commun (2015) 1.15
Genetics and genomics of autism spectrum disorder: embracing complexity. Hum Mol Genet (2015) 1.00
Autism spectrum disorders: from genes to neurobiology. Curr Opin Neurobiol (2014) 0.99
Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene. Neuron (2014) 0.96
Genome-wide characteristics of de novo mutations in autism. NPJ Genom Med (2016) 0.92
The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses. Mol Autism (2014) 0.91
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nat Genet (2016) 0.88
Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. Nat Neurosci (2016) 0.87
Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database. Mol Psychiatry (2015) 0.84
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur J Hum Genet (2014) 0.84
Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing. Sci Rep (2015) 0.82
The promises and challenges of human brain organoids as models of neuropsychiatric disease. Nat Med (2016) 0.81
Genetic Approaches to Understanding Psychiatric Disease. Neurotherapeutics (2017) 0.80
An Overview of Autism Spectrum Disorder, Heterogeneity and Treatment Options. Neurosci Bull (2017) 0.78
Horizons of psychiatric genetics and epigenetics: where are we and where are we heading? Iran J Psychiatry Behav Sci (2014) 0.78
Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders. Front Genet (2015) 0.78
Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology. Front Neurosci (2015) 0.77
Incorporating Functional Information in Tests of Excess De Novo Mutational Load. Am J Hum Genet (2015) 0.77
Discovery of rare variants for complex phenotypes. Hum Genet (2016) 0.76
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Mol Autism (2014) 0.76
Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L. PLoS One (2015) 0.76
NETWORK ASSISTED ANALYSIS TO REVEAL THE GENETIC BASIS OF AUTISM. Ann Appl Stat (2015) 0.76
A systematic variant annotation approach for ranking genes associated with autism spectrum disorders. Mol Autism (2016) 0.76
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. J Med Genet (2016) 0.76
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet (2016) 0.76
The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data. Am J Hum Genet (2017) 0.75
VARPRISM: incorporating variant prioritization in tests of de novo mutation association. Genome Med (2016) 0.75
mirDNMR: a gene-centered database of background de novo mutation rates in human. Nucleic Acids Res (2016) 0.75
An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. Sci Rep (2016) 0.75
Increased burden of deleterious variants in essential genes in autism spectrum disorder. Proc Natl Acad Sci U S A (2016) 0.75
De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. BMC Genomics (2017) 0.75
Deep Genetic Connection Between Cancer and Developmental Disorders. Hum Mutat (2016) 0.75
Analysis of Shared Haplotypes amongst Palauans Maps Loci for Psychotic Disorders to 4q28 and 5q23-q31. Mol Neuropsychiatry (2016) 0.75
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Mol Psychiatry (2017) 0.75
Bio-collections in autism research. Mol Autism (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
A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53
Genomic control for association studies. Biometrics (1999) 64.39
Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet (2001) 22.46
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
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
Five years of GWAS discovery. Am J Hum Genet (2012) 12.97
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Rate of de novo mutations and the importance of father's age to disease risk. Nature (2012) 11.92
Tackling the widespread and critical impact of batch effects in high-throughput data. Nat Rev Genet (2010) 11.82
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
De novo gene disruptions in children on the autistic spectrum. Neuron (2012) 9.69
Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet (2010) 6.79
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron (2011) 5.78
Exome sequencing and the genetic basis of complex traits. Nat Genet (2012) 4.11
De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
A transmission/disequilibrium test that allows for genotyping errors in the analysis of single-nucleotide polymorphism data. Am J Hum Genet (2001) 2.68
Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism (2012) 2.67
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron (2013) 2.45
Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex. Proc Natl Acad Sci U S A (2010) 2.45
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet (2012) 1.86
Abnormal development of forebrain midline glia and commissural projections in Nfia knock-out mice. J Neurosci (2003) 1.73
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet (2013) 1.53
Do common variants play a role in risk for autism? Evidence and theoretical musings. Brain Res (2010) 1.44
KEL-8 is a substrate receptor for CUL3-dependent ubiquitin ligase that regulates synaptic glutamate receptor turnover. Mol Biol Cell (2006) 1.35
A feedback loop mediated by degradation of an inhibitor is required to initiate neuronal differentiation. Genes Dev (2010) 1.06
NMDA-induced neuronal survival is mediated through nuclear factor I-A in mice. J Clin Invest (2010) 1.03
COL25A1 triggers and promotes Alzheimer's disease-like pathology in vivo. Neurogenetics (2009) 1.01
DISC1 conditioned GWAS for psychosis proneness in a large Finnish birth cohort. PLoS One (2012) 0.98
Rb/E2F regulates expression of neogenin during neuronal migration. Mol Cell Biol (2010) 0.97
A role for Mediator complex subunit MED13L in Rb/E2F-induced growth arrest. Oncogene (2012) 0.95
The Rb/E2F pathway modulates neurogenesis through direct regulation of the Dlx1/Dlx2 bigene cluster. J Neurosci (2012) 0.93
PDZ-RhoGEF ubiquitination by Cullin3-KLHL20 controls neurotrophin-induced neurite outgrowth. J Cell Biol (2011) 0.87
Association of COL25A1 with comorbid antisocial personality disorder and substance dependence. Biol Psychiatry (2012) 0.84
Inheritance model introduces differential bias in CNV calls between parents and offspring. Genet Epidemiol (2012) 0.80
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet (2003) 53.59
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (2007) 51.70
The structure of haplotype blocks in the human genome. Science (2002) 50.88
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res (2005) 44.08
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Genome-wide association studies for common diseases and complex traits. Nat Rev Genet (2005) 33.96
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
The landscape of somatic copy-number alteration across human cancers. Nature (2010) 31.88
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet (2008) 30.20
Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science (2006) 27.49
Global, regional, and national causes of child mortality in 2008: a systematic analysis. Lancet (2010) 26.48
Efficiency and power in genetic association studies. Nat Genet (2005) 25.56
Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature (2005) 23.04
BAY 43-9006 exhibits broad spectrum oral antitumor activity and targets the RAF/MEK/ERK pathway and receptor tyrosine kinases involved in tumor progression and angiogenesis. Cancer Res (2004) 21.36
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A (2002) 20.48
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet (2008) 19.55
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet (2007) 19.08
Direct selection of human genomic loci by microarray hybridization. Nat Methods (2007) 17.73
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med (2007) 17.06
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Characterizing the cancer genome in lung adenocarcinoma. Nature (2007) 16.48
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85
Common deletion polymorphisms in the human genome. Nat Genet (2006) 15.66
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet (2006) 15.63
Genetic mapping in human disease. Science (2008) 15.12
Calibrating a coalescent simulation of human genome sequence variation. Genome Res (2005) 15.04
Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat Genet (2006) 14.76
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
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
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Efficient control of population structure in model organism association mapping. Genetics (2008) 12.32
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet (2008) 12.07
Methods for high-density admixture mapping of disease genes. Am J Hum Genet (2004) 12.02
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol (2008) 11.28
Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science (2011) 11.12
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
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet (2008) 10.49
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
SNPdetector: a software tool for sensitive and accurate SNP detection. PLoS Comput Biol (2005) 10.04
The Atlas genome assembly system. Genome Res (2004) 9.78
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet (2008) 9.52
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47
Testing for an unusual distribution of rare variants. PLoS Genet (2011) 9.28