Published in Nature on June 09, 2010
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
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
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De novo gene disruptions in children on the autistic spectrum. Neuron (2012) 9.69
The BioPAX community standard for pathway data sharing. Nat Biotechnol (2010) 9.19
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RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science (2014) 3.48
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol (2011) 3.25
High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron (2011) 3.08
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function. Nature (2012) 2.99
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Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleases. Genome Res (2011) 2.85
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Using whole-exome sequencing to identify inherited causes of autism. Neuron (2013) 2.74
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet (2010) 2.70
Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism (2012) 2.67
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet (2012) 2.65
Genetics of autism spectrum disorders. Trends Cogn Sci (2011) 2.61
The conundrums of understanding genetic risks for autism spectrum disorders. Nat Neurosci (2011) 2.61
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Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. Am J Psychiatry (2012) 2.48
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Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication. Mol Autism (2010) 2.47
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet (2011) 2.46
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The Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping data. Mamm Genome (2012) 2.43
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Hum Mol Genet (2011) 2.38
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2. Nature (2012) 2.36
Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. Biol Psychiatry (2011) 2.28
Activity-dependent neuronal signalling and autism spectrum disorder. Nature (2013) 2.23
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Am J Hum Genet (2013) 2.15
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet (2013) 2.10
Protein interactome reveals converging molecular pathways among autism disorders. Sci Transl Med (2011) 2.04
Mitochondrial dysfunction in autism. JAMA (2010) 2.04
Phenotypic impact of genomic structural variation: insights from and for human disease. Nat Rev Genet (2013) 1.98
Toward fulfilling the promise of molecular medicine in fragile X syndrome. Annu Rev Med (2011) 1.96
Predicting the diagnosis of autism spectrum disorder using gene pathway analysis. Mol Psychiatry (2012) 1.95
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum Genet (2011) 1.94
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet (2011) 1.94
De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder. Mol Psychiatry (2013) 1.93
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet (2012) 1.92
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron (2015) 1.91
The translation of translational control by FMRP: therapeutic targets for FXS. Nat Neurosci (2013) 1.81
SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism. Mol Psychiatry (2011) 1.79
Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex. Nat Neurosci (2012) 1.79
Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am J Hum Genet (2012) 1.78
Autism spectrum disorder: advances in evidence-based practice. CMAJ (2014) 1.76
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci Transl Med (2010) 1.75
The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders. Neuron (2012) 1.71
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet (2011) 1.70
Autism genetics: searching for specificity and convergence. Genome Biol (2012) 1.70
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biol Psychiatry (2014) 1.68
Modeling autism by SHANK gene mutations in mice. Neuron (2013) 1.64
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet (2011) 1.63
Excess of rare, inherited truncating mutations in autism. Nat Genet (2015) 1.62
Sociability and motor functions in Shank1 mutant mice. Brain Res (2010) 1.60
SHANK1 Deletions in Males with Autism Spectrum Disorder. Am J Hum Genet (2012) 1.59
Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias. Nat Genet (2016) 1.57
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. PLoS Genet (2014) 1.57
The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. Neuron (2010) 1.57
Rare deletions at the neurexin 3 locus in autism spectrum disorder. Am J Hum Genet (2011) 1.56
Genomic imbalances in pediatric patients with chronic kidney disease. J Clin Invest (2015) 1.56
The Archon Genomics X PRIZE for whole human genome sequencing. Nat Genet (2010) 1.56
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet (2014) 1.55
Properties and power of the Drosophila Synthetic Population Resource for the routine dissection of complex traits. Genetics (2012) 1.55
The postsynaptic organization of synapses. Cold Spring Harb Perspect Biol (2011) 1.53
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet (2013) 1.53
Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. Am J Hum Genet (2012) 1.52
Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. Alcohol Clin Exp Res (2012) 1.50
Selective control of inhibitory synapse development by Slitrk3-PTPδ trans-synaptic interaction. Nat Neurosci (2012) 1.50
Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer's pathologies. Transl Psychiatry (2015) 1.49
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur J Hum Genet (2011) 1.48
SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs). Mol Autism (2013) 1.48
Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice. Sci Transl Med (2011) 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 variable microRNAs in schizophrenia and their neurodevelopmental gene targets. Biol Psychiatry (2014) 1.46
Risk factors for autism: translating genomic discoveries into diagnostics. Hum Genet (2011) 1.46
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. Mol Psychiatry (2012) 1.45
Advancing the understanding of autism disease mechanisms through genetics. Nat Med (2016) 1.45
The genetic basis of non-syndromic intellectual disability: a review. J Neurodev Disord (2010) 1.45
Chapter 5: Network biology approach to complex diseases. PLoS Comput Biol (2012) 1.45
Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. PLoS Genet (2012) 1.44
Do common variants play a role in risk for autism? Evidence and theoretical musings. Brain Res (2010) 1.44
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Integration of biological networks and gene expression data using Cytoscape. Nat Protoc (2007) 27.10
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature (2008) 20.31
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
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet (2003) 15.31
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med (1995) 12.70
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet (2006) 11.14
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
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47
Identifying autism loci and genes by tracing recent shared ancestry. Science (2008) 7.72
Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39
Copy-number variations associated with neuropsychiatric conditions. Nature (2008) 6.78
Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet (2007) 6.75
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A genome-wide association study of alcohol dependence. Proc Natl Acad Sci U S A (2010) 4.94
A genome-wide linkage and association scan reveals novel loci for autism. Nature (2009) 4.76
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med (2009) 3.88
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Discovering genetic ancestry using spectral graph theory. Genet Epidemiol (2010) 3.03
Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. Mol Psychiatry (2010) 2.59
The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes. Acta Neuropathol (2010) 2.42
Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc Natl Acad Sci U S A (2009) 2.04
Rethinking the nature of genetic vulnerability to autistic spectrum disorders. Trends Genet (2007) 2.04
A functional role of postsynaptic density-95-guanylate kinase-associated protein complex in regulating Shank assembly and stability to synapses. J Neurosci (2004) 1.53
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Finding the missing heritability of complex diseases. Nature (2009) 67.95
Global variation in copy number in the human genome. Nature (2006) 57.50
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
The diploid genome sequence of an individual human. PLoS Biol (2007) 44.80
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Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Integration of biological networks and gene expression data using Cytoscape. Nat Protoc (2007) 27.10
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Recent improvements to the SMART domain-based sequence annotation resource. Nucleic Acids Res (2002) 25.06
The InterPro Database, 2003 brings increased coverage and new features. Nucleic Acids Res (2003) 24.72
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Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science (2007) 23.38
Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature (2005) 23.04
Structural variation in the human genome. Nat Rev Genet (2006) 21.40
Global mapping of the yeast genetic interaction network. Science (2004) 21.34
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Variance stabilization applied to microarray data calibration and to the quantification of differential expression. Bioinformatics (2002) 20.59
The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature (2012) 20.47
Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genet (2008) 20.38
International network of cancer genome projects. Nature (2010) 20.35
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15
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Complement factor H variant increases the risk of age-related macular degeneration. Science (2005) 17.95
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Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med (2007) 17.06
Widespread transcription at neuronal activity-regulated enhancers. Nature (2010) 16.52
The genetic landscape of a cell. Science (2010) 16.52
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Replicating genotype-phenotype associations. Nature (2007) 16.11
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