A unified genetic theory for sporadic and inherited autism.

PubWeight™: 3.47‹?› | Rank: Top 1%

🔗 View Article (PMC 1933261)

Published in Proc Natl Acad Sci U S A on July 25, 2007

Authors

Xiaoyue Zhao1, Anthony Leotta, Vlad Kustanovich, Clara Lajonchere, Daniel H Geschwind, Kiely Law, Paul Law, Shanping Qiu, Catherine Lord, Jonathan Sebat, Kenny Ye, Michael Wigler

Author Affiliations

1: Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA.

Articles citing this

(truncated to the top 100)

Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51

Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet (2008) 12.18

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

Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics (2011) 6.08

The contribution of de novo coding mutations to autism spectrum disorder. Nature (2014) 5.94

CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell (2012) 4.81

Disruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet (2008) 4.78

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron (2011) 4.66

De novo rates and selection of large copy number variation. Genome Res (2010) 3.08

Clinical genetic testing for patients with autism spectrum disorders. Pediatrics (2010) 2.87

Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism (2012) 2.67

Autism: many genes, common pathways? Cell (2008) 2.63

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Med (2009) 2.60

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet (2013) 2.47

Why are autism spectrum conditions more prevalent in males? PLoS Biol (2011) 2.35

Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry (2009) 2.29

Energetics, epigenetics, mitochondrial genetics. Mitochondrion (2009) 2.08

The functional impact of structural variation in humans. Trends Genet (2008) 2.03

Predicting the diagnosis of autism spectrum disorder using gene pathway analysis. Mol Psychiatry (2012) 1.95

Topoisomerases facilitate transcription of long genes linked to autism. Nature (2013) 1.93

Autism genetics: searching for specificity and convergence. Genome Biol (2012) 1.70

Excess of rare, inherited truncating mutations in autism. Nat Genet (2015) 1.62

SHANK1 Deletions in Males with Autism Spectrum Disorder. Am J Hum Genet (2012) 1.59

Sex/gender differences and autism: setting the scene for future research. J Am Acad Child Adolesc Psychiatry (2014) 1.53

Advancing the understanding of autism disease mechanisms through genetics. Nat Med (2016) 1.45

A mitochondrial bioenergetic etiology of disease. J Clin Invest (2013) 1.27

A review of the role of female gender in autism spectrum disorders. J Autism Dev Disord (2013) 1.24

Gene-network analysis identifies susceptibility genes related to glycobiology in autism. PLoS One (2009) 1.23

Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism. Neurogenetics (2011) 1.21

Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood. Curr Genomics (2008) 1.20

Genetics of autistic disorders: review and clinical implications. Eur Child Adolesc Psychiatry (2009) 1.19

Trends in autism spectrum disorder diagnoses: 1994-2007. J Autism Dev Disord (2009) 1.17

Networking in autism: leveraging genetic, biomarker and model system findings in the search for new treatments. Neuropsychopharmacology (2011) 1.15

High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism. PLoS One (2012) 1.14

Parental age and autism spectrum disorders. Ann Epidemiol (2012) 1.13

Mutation screening of melatonin-related genes in patients with autism spectrum disorders. BMC Med Genomics (2010) 1.12

Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease. Nat Genet (2013) 1.10

What's new in autism? Eur J Pediatr (2008) 1.07

The genomically mosaic brain: aneuploidy and more in neural diversity and disease. Semin Cell Dev Biol (2013) 1.05

Genotype to phenotype relationships in autism spectrum disorders. Nat Neurosci (2014) 1.05

Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins. Mol Autism (2015) 0.98

Autism spectrum and obsessive-compulsive disorders: OC behaviors, phenotypes and genetics. Autism Res (2009) 0.96

A twin study of heritable and shared environmental contributions to autism. J Autism Dev Disord (2014) 0.95

A double hit implicates DIAPH3 as an autism risk gene. Mol Psychiatry (2010) 0.95

The role of rare structural variants in the genetics of autism spectrum disorders. Cytogenet Genome Res (2009) 0.93

Fruit flies and intellectual disability. Fly (Austin) (2009) 0.92

Maternal and paternal age are jointly associated with childhood autism in Jamaica. J Autism Dev Disord (2012) 0.91

Low load for disruptive mutations in autism genes and their biased transmission. Proc Natl Acad Sci U S A (2015) 0.91

Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders. Mol Syndromol (2013) 0.91

DIA1R is an X-linked gene related to Deleted In Autism-1. PLoS One (2011) 0.90

Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding. Curr Genomics (2010) 0.90

Epigenomic strategies at the interface of genetic and environmental risk factors for autism. J Hum Genet (2013) 0.90

Parent report of community psychiatric comorbid diagnoses in autism spectrum disorders. Autism Res Treat (2011) 0.90

Developmental profiles of infants and toddlers with autism spectrum disorders identified prospectively in a community-based setting. J Autism Dev Disord (2012) 0.89

Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders. Nat Commun (2016) 0.89

Brief report: parental age and the sex ratio in autism. J Autism Dev Disord (2009) 0.88

DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families. Behav Brain Funct (2012) 0.88

Mutations in the TSGA14 gene in families with autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet (2011) 0.88

Understanding autism in the light of sex/gender. Mol Autism (2015) 0.88

Impairments of Social Motor Synchrony Evident in Autism Spectrum Disorder. Front Psychol (2016) 0.86

Systematic genotype-phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism. Eur J Hum Genet (2009) 0.84

Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder. Transl Psychiatry (2013) 0.84

Mitochondrial and ion channel gene alterations in autism. Biochim Biophys Acta (2012) 0.83

Quantifying and modeling birth order effects in autism. PLoS One (2011) 0.83

Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism. Mol Autism (2015) 0.83

Chromatin regulators, phenotypic robustness, and autism risk. Front Genet (2014) 0.83

Subgrouping siblings of people with autism: Identifying the broader autism phenotype. Autism Res (2015) 0.83

A molecular genetic study of autism and related phenotypes in extended pedigrees. J Neurodev Disord (2013) 0.82

The relationship between the neuromodulator adenosine and behavioral symptoms of autism. Neurosci Lett (2011) 0.82

The ongoing dissection of the genetic architecture of autistic spectrum disorder. Mol Autism (2011) 0.82

An assay for social interaction in Drosophila fragile X mutants. Fly (Austin) (2010) 0.81

Etiologies and molecular mechanisms of communication disorders. J Dev Behav Pediatr (2010) 0.81

Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders. PLoS One (2011) 0.80

The correlation between rates of cancer and autism: an exploratory ecological investigation. PLoS One (2010) 0.80

Advanced paternal age at birth: phenotypic and etiologic associations with eating pathology in offspring. Psychol Med (2014) 0.79

Quantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families. Mol Autism (2015) 0.79

The Contribution of Mosaic Variants to Autism Spectrum Disorder. PLoS Genet (2016) 0.78

Diagnosing Autism in Individuals with Known Genetic Syndromes: Clinical Considerations and Implications for Intervention. Int Rev Res Dev Disabil (2015) 0.78

Mood disorders in mothers of children on the autism spectrum are associated with higher functioning autism. Autism Res Treat (2012) 0.78

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. Am J Hum Genet (2016) 0.78

A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation. J Autism Dev Disord (2008) 0.78

Developmental neurogenetics and multimodal neuroimaging of sex differences in autism. Brain Imaging Behav (2016) 0.77

Brief report: on the concordance percentages for Autistic Spectrum Disorder of twins. J Autism Dev Disord (2009) 0.77

Gender differences in CNV burden do not confound schizophrenia CNV associations. Sci Rep (2016) 0.77

Underlying Factors Behind the Low Prevalence of Autism Spectrum Disorders in Oman: Sociocultural perspective. Sultan Qaboos Univ Med J (2015) 0.77

Relationships among body mass, brain size, gut length, and blood tryptophan and serotonin in young wild-type mice. BMC Physiol (2009) 0.77

Environmental risk factors for autism spectrum disorders. Nervenarzt (2016) 0.76

Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline. Cold Spring Harb Mol Case Stud (2015) 0.76

Predictive value of morphological features in patients with autism versus normal controls. J Autism Dev Disord (2013) 0.76

Management of diseases without current treatment options: something can be done. JAMA (2009) 0.76

Early Identification of Autism: Early Characteristics, Onset of Symptoms, and Diagnostic Stability. Infants Young Child (2017) 0.75

The role of sex-differential biology in risk for autism spectrum disorder. Biol Sex Differ (2016) 0.75

Characteristics of Autism Spectrum Disorder in Sotos Syndrome. J Autism Dev Disord (2016) 0.75

Genotype- and sex-dependent effects of altered Cntnap2 expression on the function of visual cortical areas. J Neurodev Disord (2017) 0.75

Autism genetics: opportunities and challenges for clinical translation. Nat Rev Genet (2017) 0.75

Etiological analysis of neurodevelopmental disabilities: single-center eight-year clinical experience in south China. J Biomed Biotechnol (2010) 0.75

CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens. Sci Rep (2016) 0.75

Genetics of childhood-onset schizophrenia. Child Adolesc Psychiatr Clin N Am (2013) 0.75

Atypical age-dependent effects of autism on white matter microstructure in children of 2-7 years. Hum Brain Mapp (2015) 0.75

Articles cited by this

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord (1994) 42.80

Strong association of de novo copy number mutations with autism. Science (2007) 27.84

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet (1999) 22.84

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell (1991) 17.00

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

Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell (1993) 7.59

Autism diagnostic observation schedule: a standardized observation of communicative and social behavior. J Autism Dev Disord (1989) 7.53

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science (1991) 7.16

Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry (2006) 5.63

The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions. Am J Hum Genet (2001) 5.23

A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet (1999) 4.96

Prevalence of autism spectrum disorders--autism and developmental disabilities monitoring network, 14 sites, United States, 2002. MMWR Surveill Summ (2007) 4.70

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet (2006) 4.64

Sex differences in the brain: implications for explaining autism. Science (2005) 4.38

Fragile X genotype characterized by an unstable region of DNA. Science (1991) 4.33

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron (2006) 3.65

Advancing paternal age and autism. Arch Gen Psychiatry (2006) 3.58

A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet (2001) 3.54

A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27. Am J Hum Genet (2002) 2.74

Molecular genetics of autism spectrum disorder. Mol Psychiatry (2004) 2.61

A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet (2003) 2.51

A genomewide screen for autism susceptibility loci. Am J Hum Genet (2001) 2.30

Trend analysis of the sex ratio at birth in the United States. Natl Vital Stat Rep (2005) 1.71

Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families. Ann Neurol (2006) 1.57

X-linked genes and mental functioning. Hum Mol Genet (2005) 1.46

Genomic imprinting of the X chromosome: a novel mechanism for the evolution of sexual dimorphism. J Lab Clin Med (1999) 1.05

Articles by these authors

Large-scale copy number polymorphism in the human genome. Science (2004) 34.64

Strong association of de novo copy number mutations with autism. Science (2007) 27.84

Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics (2004) 24.18

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15

Tumour evolution inferred by single-cell sequencing. Nature (2011) 19.13

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

De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61

Identification and validation of oncogenes in liver cancer using an integrative oncogenomic approach. Cell (2006) 12.72

Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55

Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet (2008) 12.18

Annotating large genomes with exact word matches. Genome Res (2003) 11.07

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

Cancerous stem cells can arise from pediatric brain tumors. Proc Natl Acad Sci U S A (2003) 10.56

Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature (2011) 10.16

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07

De novo gene disruptions in children on the autistic spectrum. Neuron (2012) 9.69

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02

Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Res (2003) 7.86

Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res (2009) 7.42

Modelling schizophrenia using human induced pluripotent stem cells. Nature (2011) 7.41

Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet (2008) 7.13

Standardizing ADOS scores for a measure of severity in autism spectrum disorders. J Autism Dev Disord (2008) 7.10

Functional organization of the transcriptome in human brain. Nat Neurosci (2008) 7.02

Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry (2011) 6.98

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62

Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13

Inferring tumor progression from genomic heterogeneity. Genome Res (2009) 6.09

Comparative isoschizomer profiling of cytosine methylation: the HELP assay. Genome Res (2006) 5.99

The Autism Diagnostic Observation Schedule: revised algorithms for improved diagnostic validity. J Autism Dev Disord (2006) 5.78

Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron (2011) 5.78

Conservation and evolution of gene coexpression networks in human and chimpanzee brains. Proc Natl Acad Sci U S A (2006) 5.69

An oncogenomics-based in vivo RNAi screen identifies tumor suppressors in liver cancer. Cell (2008) 5.47

Functional and evolutionary insights into human brain development through global transcriptome analysis. Neuron (2009) 5.46

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet (2008) 5.44

Behavioural phenotyping assays for mouse models of autism. Nat Rev Neurosci (2010) 5.27

Combining information from multiple sources in the diagnosis of autism spectrum disorders. J Am Acad Child Adolesc Psychiatry (2006) 5.23

The Simons Simplex Collection: a resource for identification of autism genetic risk factors. Neuron (2010) 5.14

A functional genetic link between distinct developmental language disorders. N Engl J Med (2008) 4.99

CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell (2012) 4.81

Elevated gene expression levels distinguish human from non-human primate brains. Proc Natl Acad Sci U S A (2003) 4.69

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron (2011) 4.66

Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell (2011) 4.58

Completing the map of human genetic variation. Nature (2007) 4.38

Novel patterns of genome rearrangement and their association with survival in breast cancer. Genome Res (2006) 4.25

Application of DSM-5 criteria for autism spectrum disorder to three samples of children with DSM-IV diagnoses of pervasive developmental disorders. Am J Psychiatry (2012) 4.06

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell (2012) 4.03

FACS-array profiling of striatal projection neuron subtypes in juvenile and adult mouse brains. Nat Neurosci (2006) 3.81

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet (2008) 3.66

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Nat Med (2011) 3.66

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature (2011) 3.51

A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42

The Autism Diagnostic Observation Schedule-toddler module: a new module of a standardized diagnostic measure for autism spectrum disorders. J Autism Dev Disord (2009) 3.21

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism. Am J Med Genet B Neuropsychiatr Genet (2007) 3.11

High definition profiling of mammalian DNA methylation by array capture and single molecule bisulfite sequencing. Genome Res (2009) 3.08

High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron (2011) 3.08

Sibling recurrence and the genetic epidemiology of autism. Am J Psychiatry (2010) 3.07

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science (2004) 3.01

A systems level analysis of transcriptional changes in Alzheimer's disease and normal aging. J Neurosci (2008) 2.97

Autism and pervasive developmental disorders. J Child Psychol Psychiatry (2004) 2.96

PTEN negatively regulates neural stem cell self-renewal by modulating G0-G1 cell cycle entry. Proc Natl Acad Sci U S A (2005) 2.93

Stress hormones and human memory function across the lifespan. Psychoneuroendocrinology (2005) 2.92

Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction. J Neurosci (2004) 2.89

Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. Cell (2013) 2.87

The symptoms of autism spectrum disorders in adolescence and adulthood. J Autism Dev Disord (2003) 2.86

A cluster of cooperating tumor-suppressor gene candidates in chromosomal deletions. Proc Natl Acad Sci U S A (2012) 2.85

Divergence of human and mouse brain transcriptome highlights Alzheimer disease pathways. Proc Natl Acad Sci U S A (2010) 2.85

A replication of the Autism Diagnostic Observation Schedule (ADOS) revised algorithms. J Am Acad Child Adolesc Psychiatry (2008) 2.82

Human-specific transcriptional networks in the brain. Neuron (2012) 2.80

Cognitive profiles and social-communicative functioning in children with autism spectrum disorder. J Child Psychol Psychiatry (2002) 2.80

Early indicators of autism spectrum disorders in the second year of life. J Autism Dev Disord (2004) 2.79