Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

[1]  Michael F. Green,et al.  Mapping genomic loci implicates genes and synaptic biology in schizophrenia , 2022, Nature.

[2]  S. Gabriel,et al.  Rare coding variants in ten genes confer substantial risk for schizophrenia , 2022, Nature.

[3]  J. Sebat,et al.  A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex , 2022, Nature genetics.

[4]  T. Ideker,et al.  A convergent molecular network underlying autism and congenital heart disease. , 2021, Cell systems.

[5]  M. State,et al.  Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience , 2021, Neuron.

[6]  Stephan J Sanders,et al.  The female protective effect against autism spectrum disorder , 2021, European Neuropsychopharmacology.

[7]  O. Marín,et al.  A white paper on a neurodevelopmental framework for drug discovery in autism and other neurodevelopmental disorders , 2021, European Neuropsychopharmacology.

[8]  M. State,et al.  Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience , 2021, Neuron.

[9]  Sara B. Linker,et al.  The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing , 2021, Nature Neuroscience.

[10]  Howard Y. Chang,et al.  Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution , 2020, Cell.

[11]  Anushya Muruganujan,et al.  The Gene Ontology resource: enriching a GOld mine , 2020, Nucleic Acids Res..

[12]  G. Kirov,et al.  Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations , 2020, Nature Communications.

[13]  D. Skuse,et al.  Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals , 2020, Biological Psychiatry.

[14]  M. Hurles,et al.  The contribution of X-linked coding variation to severe developmental disorders , 2020, Nature Communications.

[15]  Ronen E. Mukamel,et al.  Large mosaic copy number variations confer autism risk , 2020, Nature Neuroscience.

[16]  H. Willsey,et al.  Xenopus leads the way: Frogs as a pioneering model to understand the human brain , 2020, Genesis.

[17]  H. C. Fan,et al.  Generation of Functional Human 3D Cortico-Motor Assembloids , 2020, Cell.

[18]  M. Porteus,et al.  Generation of human striatal organoids and cortico-striatal assembloids from human pluripotent stem cells , 2020, Nature Biotechnology.

[19]  S. Scherer,et al.  Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome , 2020, Nature Medicine.

[20]  D. Ledbetter,et al.  Response to Buxbaum et al. , 2020, American journal of human genetics.

[21]  Madeline A. Lancaster,et al.  Brain organoids for the study of human neurobiology at the interface of in vitro and in vivo , 2020, Nature Neuroscience.

[22]  N. Brown,et al.  NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism. , 2020, American journal of human genetics.

[23]  C. Walsh,et al.  Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder , 2020, Scientific Reports.

[24]  M. State,et al.  Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders , 2020, Neuropsychopharmacology.

[25]  M. Kampmann CRISPR-based functional genomics for neurological disease , 2020, Nature Reviews Neurology.

[26]  Sayed Hadi Hashemi,et al.  Genome-wide CRISPRi/a screens in human neurons link lysosomal failure to ferroptosis , 2020, Nature Neuroscience.

[27]  Stephan J Sanders,et al.  Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers , 2020, eLife.

[28]  Tariq Ahmad,et al.  A structural variation reference for medical and population genetics , 2020, Nature.

[29]  J. Constantino,et al.  Inherited Risk for Autism Through Maternal and Paternal Lineage , 2020, Biological Psychiatry.

[30]  A. Kriegstein,et al.  Single-cell atlas of early human brain development highlights heterogeneity of human neuroepithelial cells and early radial glia , 2020, Nature Neuroscience.

[31]  Stephan J Sanders,et al.  Not All Autism Genes Are Created Equal: A Response to Myers et al. , 2020, American journal of human genetics.

[32]  M. Passos-Bueno,et al.  Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder , 2020, Molecular Psychiatry.

[33]  E. Eichler,et al.  Insufficient Evidence for “Autism-Specific” Genes , 2020, American journal of human genetics.

[34]  Howard Y. Chang,et al.  Chromatin accessibility dynamics in a model of human forebrain development , 2020, Science.

[35]  C. Lord,et al.  Autism spectrum disorder , 2020, Nature Reviews Disease Primers.

[36]  C. Webber,et al.  Addressing variability in iPSC-derived models of human disease: guidelines to promote reproducibility , 2020, Disease Models & Mechanisms.

[37]  Maximilian Haeussler,et al.  Cell Stress in Cortical Organoids Impairs Molecular Subtype Specification , 2019, Nature.

[38]  Sean K. Simmons,et al.  In vivo Perturb-Seq reveals neuronal and glial abnormalities associated with autism risk genes , 2019, Science.

[39]  Ryan L. Collins,et al.  The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.

[40]  Matthew W. Mosconi,et al.  Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism , 2019, Cell.

[41]  R. Mitra,et al.  High-throughput single-cell functional elucidation of neurodevelopmental disease–associated genes reveals convergent mechanisms altering neuronal differentiation , 2019, bioRxiv.

[42]  Madeline G. Andrews,et al.  Human brain development through the lens of cerebral organoid models , 2019, Brain Research.

[43]  M. Trková,et al.  Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients , 2019, PeerJ.

[44]  E. Eichler,et al.  De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder , 2019, Genetics in Medicine.

[45]  J. Lupski,et al.  Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder , 2019, American journal of human genetics.

[46]  H. Stefánsson,et al.  Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder , 2019, Translational Psychiatry.

[47]  Lisa T. Emrick,et al.  Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders , 2019, Nature Communications.

[48]  John Wei,et al.  A large data resource of genomic copy number variation across neurodevelopmental disorders , 2019, npj Genomic Medicine.

[49]  Jakob Grove,et al.  Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have a similar burden of rare protein-truncating variants , 2019, Nature Neuroscience.

[50]  C. Hartl,et al.  Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms , 2019, Cell.

[51]  J. Sebat,et al.  Getting to the Cores of Autism , 2019, Cell.

[52]  M. Gerstein,et al.  A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation , 2019, Neuron.

[53]  Laura Pérez-Cano,et al.  Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks , 2019, Cell.

[54]  Cristan Farmer,et al.  State of the Field: Differentiating Intellectual Disability From Autism Spectrum Disorder , 2019, Front. Psychiatry.

[55]  M. Daly,et al.  Recessive gene disruptions in autism spectrum disorder , 2019, Nature Genetics.

[56]  Maximilian Haeussler,et al.  Single-cell genomics identifies cell type–specific molecular changes in autism , 2019, Science.

[57]  Stephan J Sanders,et al.  Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex , 2019, bioRxiv.

[58]  Alicia R. Martin,et al.  Identification of common genetic risk variants for autism spectrum disorder , 2019, Nature Genetics.

[59]  J. Rosenfeld,et al.  Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP , 2019, Biological Psychiatry.

[60]  J. Rosenfeld,et al.  DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract , 2019, Genetics in Medicine.

[61]  Michael S. Fernandopulle,et al.  CRISPR Interference-Based Platform for Multimodal Genetic Screens in Human iPSC-Derived Neurons , 2019, Neuron.

[62]  Baptiste N. Jaeger,et al.  Pathological priming causes developmental gene network heterochronicity in autism patient-derived neurons , 2019, Nature Neuroscience.

[63]  Ian T. Fiddes,et al.  Establishing Cerebral Organoids as Models of Human-Specific Brain Evolution , 2018, Cell.

[64]  M. Owen,et al.  Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders , 2018, Genome Biology.

[65]  Anushya Muruganujan,et al.  PANTHER version 14: more genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools , 2018, Nucleic Acids Res..

[66]  Ansuman T. Satpathy,et al.  Coupled Single-Cell CRISPR Screening and Epigenomic Profiling Reveals Causal Gene Regulatory Networks , 2018, Cell.

[67]  Prashant S. Emani,et al.  Comprehensive functional genomic resource and integrative model for the human brain , 2018, Science.

[68]  Annie W Shieh,et al.  Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder , 2018, Science.

[69]  Stephan J Sanders,et al.  Integrative functional genomic analysis of human brain development and neuropsychiatric risks , 2018, Science.

[70]  M. Gerstein,et al.  Transcriptome and epigenome landscape of human cortical development modeled in organoids , 2018, Science.

[71]  B. Coe,et al.  Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes , 2018, Genetics in Medicine.

[72]  Christopher A Walsh,et al.  Somatic mosaicism and neurodevelopmental disease , 2018, Nature Neuroscience.

[73]  N. Šestan,et al.  Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder , 2018, Neuron.

[74]  Nevan J. Krogan,et al.  The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders , 2018, Cell.

[75]  S. Scherer,et al.  Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons , 2018, bioRxiv.

[76]  F. Tang,et al.  Spatial transcriptomic survey of human embryonic cerebral cortex by single-cell RNA-seq analysis , 2018, Cell Research.

[77]  Derek J Van Booven,et al.  Convergent Pathways in Idiopathic Autism Revealed by Time Course Transcriptomic Analysis of Patient-Derived Neurons , 2018, Scientific Reports.

[78]  Devanand S. Manoli,et al.  Gene regulatory mechanisms underlying sex differences in brain development and psychiatric disease , 2018, Annals of the New York Academy of Sciences.

[79]  Ryan L. Collins,et al.  An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder , 2018, Nature Genetics.

[80]  Wei Zhang,et al.  Systematic Evaluation of Molecular Networks for Discovery of Disease Genes. , 2018, Cell systems.

[81]  Jie Qiao,et al.  A single-cell RNA-seq survey of the developmental landscape of the human prefrontal cortex , 2018, Nature.

[82]  Anibal Gutierrez,et al.  SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research , 2018, Neuron.

[83]  Nick C Fox,et al.  Analysis of shared heritability in common disorders of the brain , 2018, Science.

[84]  Gerome Breen,et al.  Psychiatric Genomics: An Update and an Agenda , 2017, bioRxiv.

[85]  Alex A. Pollen,et al.  Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex , 2017, Science.

[86]  Kathe P. Fox,et al.  Association of Sex With Recurrence of Autism Spectrum Disorder Among Siblings , 2017, JAMA pediatrics.

[87]  R. J. Ramamurthi,et al.  Nusinersen versus Sham Control in Infantile‐Onset Spinal Muscular Atrophy , 2017, The New England journal of medicine.

[88]  Yufeng Shen,et al.  Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands , 2017, Nature Genetics.

[89]  Yong-hui Jiang,et al.  Altered neurogenesis and disrupted expression of synaptic proteins in prefrontal cortex of SHANK3-deficient non-human primate , 2017, Cell Research.

[90]  Ence Yang,et al.  Systematic analysis of gene expression patterns associated with postmortem interval in human tissues , 2017, Scientific Reports.

[91]  Christopher S. Poultney,et al.  Rates, Distribution, and Implications of Post-zygotic Mosaic Mutations in Autism Spectrum Disorder , 2017, Nature Neuroscience.

[92]  Jeffrey T Leek,et al.  qSVA framework for RNA quality correction in differential expression analysis , 2017, Proceedings of the National Academy of Sciences of the United States of America.

[93]  M. Daly,et al.  Regional missense constraint improves variant deleteriousness prediction , 2017, bioRxiv.

[94]  W. Mandy,et al.  What Is the Male-to-Female Ratio in Autism Spectrum Disorder? A Systematic Review and Meta-Analysis. , 2017, Journal of the American Academy of Child and Adolescent Psychiatry.

[95]  A. Y. Ye,et al.  Postzygotic single‐nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations , 2017, Human mutation.

[96]  P. Khatri,et al.  Gene annotation bias impedes biomedical research , 2017, bioRxiv.

[97]  Jonathan A. Bernstein,et al.  Assembly of functionally integrated human forebrain spheroids , 2017, Nature.

[98]  Wei Cheng,et al.  Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects , 2016, Nature Genetics.

[99]  Roy Ben-Shalom,et al.  Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures , 2017, Biological Psychiatry.

[100]  Jakob Grove,et al.  Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders , 2016, Nature Genetics.

[101]  B. O’Roak,et al.  Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder , 2016, bioRxiv.

[102]  André F. Rendeiro,et al.  Pooled CRISPR screening with single-cell transcriptome read-out , 2017, Nature Methods.

[103]  Stephan J Sanders,et al.  Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples , 2016, Nature Genetics.

[104]  D. Geschwind,et al.  Altered proliferation and networks in neural cells derived from idiopathic autistic individuals , 2016, Molecular Psychiatry.

[105]  I. Amit,et al.  Dissecting Immune Circuits by Linking CRISPR-Pooled Screens with Single-Cell RNA-Seq , 2016, Cell.

[106]  Luis de la Torre Ubieta,et al.  Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism , 2016, Nature.

[107]  Thomas M. Norman,et al.  A Multiplexed Single-Cell CRISPR Screening Platform Enables Systematic Dissection of the Unfolded Protein Response , 2016, Cell.

[108]  Thomas M. Norman,et al.  Perturb-Seq: Dissecting Molecular Circuits with Scalable Single-Cell RNA Profiling of Pooled Genetic Screens , 2016, Cell.

[109]  D. Werling,et al.  The role of sex-differential biology in risk for autism spectrum disorder , 2016, Biology of Sex Differences.

[110]  Donald N Freed,et al.  The Contribution of Mosaic Variants to Autism Spectrum Disorder , 2016, PLoS genetics.

[111]  Rita M Cantor,et al.  Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. , 2016, American journal of human genetics.

[112]  A. Packer Neocortical neurogenesis and the etiology of autism spectrum disorder , 2016, Neuroscience & Biobehavioral Reviews.

[113]  M. McCarthy,et al.  Multifaceted origins of sex differences in the brain , 2016, Philosophical Transactions of the Royal Society B: Biological Sciences.

[114]  Joseph M. Fernandez,et al.  Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2 , 2016, Neuron.

[115]  P. Bolton,et al.  Heritability of autism spectrum disorders: a meta‐analysis of twin studies , 2015, Journal of child psychology and psychiatry, and allied disciplines.

[116]  James Y. Zou Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[117]  C. Walsh,et al.  Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms , 2015, Neuron.

[118]  Alex A. Pollen,et al.  Molecular Identity of Human Outer Radial Glia during Cortical Development , 2015, Cell.

[119]  Christopher S. Poultney,et al.  Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci , 2015, Neuron.

[120]  M. Gerstein,et al.  FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders , 2015, Cell.

[121]  Stephan J Sanders,et al.  The female protective effect in autism spectrum disorder is not mediated by a single genetic locus , 2015, Molecular Autism.

[122]  Joshua L. Deignan,et al.  DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies , 2015, European Journal of Human Genetics.

[123]  Eric M. Morrow,et al.  A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity? , 2015, Biological Psychiatry.

[124]  P. Bolton,et al.  Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample. , 2015, JAMA psychiatry.

[125]  T. Perneger,et al.  P < 5 × 10(-8) has emerged as a standard of statistical significance for genome-wide association studies. , 2015, Journal of clinical epidemiology.

[126]  J. Sebat,et al.  Spatiotemporal 16p11.2 Protein Network Implicates Cortical Late Mid-Fetal Brain Development and KCTD13-Cul3-RhoA Pathway in Psychiatric Diseases , 2015, Neuron.

[127]  Matthew W State,et al.  Autism spectrum disorders: from genes to neurobiology , 2015, Current Opinion in Neurobiology.

[128]  Stephan J. Sanders,et al.  Genotype to phenotype relationships in autism spectrum disorders , 2014, Nature Neuroscience.

[129]  S Baron-Cohen,et al.  Elevated fetal steroidogenic activity in autism , 2014, Molecular Psychiatry.

[130]  Shannon E. Ellis,et al.  Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism , 2014, Nature Communications.

[131]  Boris Yamrom,et al.  The contribution of de novo coding mutations to autism spectrum disorder , 2014, Nature.

[132]  Christopher S. Poultney,et al.  Synaptic, transcriptional, and chromatin genes disrupted in autism , 2014, Nature.

[133]  Kathryn Roeder,et al.  De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. , 2014, Cell reports.

[134]  M. Daly,et al.  Autism spectrum disorder severity reflects the average contribution of de novo and familial influences , 2014, Proceedings of the National Academy of Sciences.

[135]  Stephan J Sanders,et al.  A framework for the interpretation of de novo mutation in human disease , 2014, Nature Genetics.

[136]  C. Walsh,et al.  CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis , 2014, Cell reports.

[137]  Jay Shendure,et al.  Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development , 2014, Cell.

[138]  Kathryn Roeder,et al.  Most genetic risk for autism resides with common variation , 2014, Nature Genetics.

[139]  S. Scherer,et al.  Biological Overlap of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder: Evidence From Copy Number Variants , 2014, Journal of the American Academy of Child and Adolescent Psychiatry.

[140]  Daniele Merico,et al.  Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder , 2014, Nature Genetics.

[141]  Allan R. Jones,et al.  Transcriptional Landscape of the Prenatal Human Brain , 2014, Nature.

[142]  Sven Bergmann,et al.  A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. , 2014, American journal of human genetics.

[143]  Kathryn Roeder,et al.  DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics , 2014, Molecular Autism.

[144]  David R. O'Brien,et al.  Cell Type-Specific Expression Analysis to Identify Putative Cellular Mechanisms for Neurogenetic Disorders , 2014, The Journal of Neuroscience.

[145]  Lars Feuk,et al.  The Database of Genomic Variants: a curated collection of structural variation in the human genome , 2013, Nucleic Acids Res..

[146]  Wei Niu,et al.  Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism , 2013, Cell.

[147]  S. Horvath,et al.  Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism , 2013, Cell.

[148]  Sharmila Banerjee-Basu,et al.  SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs) , 2013, Molecular Autism.

[149]  E. Ben-David,et al.  Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism , 2013, Molecular Psychiatry.

[150]  Jianxin Shi,et al.  Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs , 2013, Nature Genetics.

[151]  D. Goldstein,et al.  Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes , 2013, PLoS genetics.

[152]  Kathryn Roeder,et al.  Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes , 2013, PLoS genetics.

[153]  Bonnie Evans How autism became autism , 2013, History of the human sciences.

[154]  Christopher A Walsh,et al.  Genetic causes of microcephaly and lessons for neuronal development , 2013, Wiley interdisciplinary reviews. Developmental biology.

[155]  M. Daly,et al.  Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis , 2013, The Lancet.

[156]  Edward Y. Chen,et al.  Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool , 2013, BMC Bioinformatics.

[157]  D. Geschwind,et al.  Sex differences in autism spectrum disorders. , 2013, Current opinion in neurology.

[158]  Kathryn Roeder,et al.  Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders , 2013, Neuron.

[159]  Eric M. Morrow,et al.  Using Whole-Exome Sequencing to Identify Inherited Causes of Autism , 2013, Neuron.

[160]  Patricia C. Babbitt,et al.  Biases in the Experimental Annotations of Protein Function and Their Effect on Our Understanding of Protein Function Space , 2013, PLoS Comput. Biol..

[161]  T. Ideker,et al.  A gene ontology inferred from molecular networks , 2012, Nature Biotechnology.

[162]  K. Kyvik,et al.  A Danish population-based twin study on autism spectrum disorders , 2013, European Child & Adolescent Psychiatry.

[163]  Bradley P. Coe,et al.  Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders , 2012, Science.

[164]  Robert A Harris,et al.  Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy , 2012, Science.

[165]  Kathryn Roeder,et al.  Common genetic variants, acting additively, are a major source of risk for autism , 2012, Molecular Autism.

[166]  Matthew W. State,et al.  The Emerging Biology of Autism Spectrum Disorders , 2012, Science.

[167]  S. Steinberg,et al.  Rate of de novo mutations, father’s age, and disease risk , 2012, Nature.

[168]  Bernie Devlin,et al.  Genetic architecture in autism spectrum disorder. , 2012, Current opinion in genetics & development.

[169]  Kenny Q. Ye,et al.  De Novo Gene Disruptions in Children on the Autistic Spectrum , 2012, Neuron.

[170]  Michael F. Walker,et al.  De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.

[171]  Evan T. Geller,et al.  Patterns and rates of exonic de novo mutations in autism spectrum disorders , 2012, Nature.

[172]  Allan R. Jones,et al.  Transcriptional Architecture of the Primate Neocortex , 2012, Neuron.

[173]  J. Sebat,et al.  CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics , 2012, Cell.

[174]  Eyal Ben-David,et al.  Networks of Neuronal Genes Affected by Common and Rare Variants in Autism Spectrum Disorders , 2012, PLoS genetics.

[175]  Bradley P. Coe,et al.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.

[176]  Pat Levitt,et al.  The conundrums of understanding genetic risks for autism spectrum disorders , 2011, Nature Neuroscience.

[177]  C. Lajonchere,et al.  Genetic heritability and shared environmental factors among twin pairs with autism. , 2011, Archives of general psychiatry.

[178]  J. Leek,et al.  Temporal dynamics and genetic control of transcription in the human prefrontal cortex , 2011, Nature.

[179]  J. Kleinman,et al.  Spatiotemporal transcriptome of the human brain , 2011, Nature.

[180]  Y. S. Kim,et al.  Prevalence of autism spectrum disorders in a total population sample. , 2011, The American journal of psychiatry.

[181]  S. Bryson,et al.  Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study , 2011, Pediatrics.

[182]  Boris Yamrom,et al.  Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders , 2011, Neuron.

[183]  Kathryn Roeder,et al.  Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism , 2011, Neuron.

[184]  Michael Wigler,et al.  Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses , 2011, Neuron.

[185]  S. Horvath,et al.  Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology , 2011, Nature.

[186]  M. Rieder,et al.  Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations , 2011, Nature Genetics.

[187]  Yi Zhang,et al.  Sibling recurrence and the genetic epidemiology of autism. , 2010, The American journal of psychiatry.

[188]  C. Gillberg,et al.  The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. , 2010, The American journal of psychiatry.

[189]  H. Stefánsson,et al.  Supplementary webappendix , 2018 .

[190]  Insuk Lee,et al.  Characterising and Predicting Haploinsufficiency in the Human Genome , 2010, PLoS genetics.

[191]  Stephan J Sanders,et al.  Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations , 2010, Nature.

[192]  Gary D Bader,et al.  Functional impact of global rare copy number variation in autism spectrum disorders , 2010, Nature.

[193]  P. Bork,et al.  A method and server for predicting damaging missense mutations , 2010, Nature Methods.

[194]  A. Packer,et al.  SFARI Gene: an evolving database for the autism research community , 2010, Disease Models & Mechanisms.

[195]  E. Bleuler [Dementia praecox or the group of schizophrenias]. , 1968, Vertex.

[196]  P. Greengard,et al.  Writing Memories with Light-Addressable Reinforcement Circuitry , 2009, Cell.

[197]  Gayane Yenokyan,et al.  Characteristics and concordance of autism spectrum disorders among 277 twin pairs. , 2009, Archives of pediatrics & adolescent medicine.

[198]  Pall I. Olason,et al.  Common variants conferring risk of schizophrenia , 2009, Nature.

[199]  P. Visscher,et al.  Common polygenic variation contributes to risk of schizophrenia and bipolar disorder , 2009, Nature.

[200]  Jianxin Shi,et al.  Common variants on chromosome 6p22.1 are associated with schizophrenia , 2009, Nature.

[201]  Jing Chen,et al.  ToppGene Suite for gene list enrichment analysis and candidate gene prioritization , 2009, Nucleic Acids Res..

[202]  Thomas Bourgeron,et al.  A synaptic trek to autism , 2009, Current Opinion in Neurobiology.

[203]  D. Skuse,et al.  Social communication competence and functional adaptation in a general population of children: preliminary evidence for sex-by-verbal IQ differential risk. , 2009, Journal of the American Academy of Child and Adolescent Psychiatry.

[204]  Rebecca C. Knickmeyer,et al.  Edinburgh Research Explorer Fetal testosterone and autistic traits , 2014 .

[205]  M. D'Esposito,et al.  Isolation, physical mapping, and Northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2 , 1996, Mammalian Genome.

[206]  P. Greengard,et al.  Resource Application of a Translational Profiling Approach for the Comparative Analysis of CNS Cell Types , 2009 .

[207]  Eric M. Morrow,et al.  Autism and Brain Development , 2008, Cell.

[208]  Takeshi Nishiyama,et al.  Genetic influences on the broad spectrum of autism: Study of proband‐ascertained twins , 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[209]  K. Shiota,et al.  Hedgehog signaling is involved in development of the neocortex , 2008, Development.

[210]  Eric M. Morrow,et al.  Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry , 2008, Science.

[211]  Joshua M. Korn,et al.  Association between microdeletion and microduplication at 16p11.2 and autism. , 2008, The New England journal of medicine.

[212]  D. Pinto,et al.  Structural variation of chromosomes in autism spectrum disorder. , 2008, American journal of human genetics.

[213]  Yiping Shen,et al.  Disruption of neurexin 1 associated with autism spectrum disorder. , 2008, American journal of human genetics.

[214]  D. Conrad,et al.  Recurrent 16p11.2 microdeletions in autism. , 2007, Human molecular genetics.

[215]  D. Skuse Rethinking the nature of genetic vulnerability to autistic spectrum disorders. , 2007, Trends in genetics : TIG.

[216]  Rebecca C. Knickmeyer,et al.  Elevated rates of testosterone-related disorders in women with autism spectrum conditions , 2007, Hormones and Behavior.

[217]  Kenny Q. Ye,et al.  Strong Association of De Novo Copy Number Mutations with Autism , 2007, Science.

[218]  Thomas Bourgeron,et al.  Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders , 2007, Nature Genetics.

[219]  D. Stephan,et al.  Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. , 2006, The New England journal of medicine.

[220]  Pablo Tamayo,et al.  Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[221]  Huda Akil,et al.  Systematic changes in gene expression in postmortem human brains associated with tissue pH and terminal medical conditions. , 2004, Human molecular genetics.

[222]  Albert David,et al.  X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. , 2004, American journal of human genetics.

[223]  R. Nieuwenhuys The neocortex , 1994, Anatomy and Embryology.

[224]  H. Zoghbi Postnatal Neurodevelopmental Disorders: Meeting at the Synapse? , 2003, Science.

[225]  Thomas Bourgeron,et al.  Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism , 2003, Nature Genetics.

[226]  S. Baron-Cohen The extreme male brain theory of autism , 2002, Trends in Cognitive Sciences.

[227]  R. Keynes,et al.  A critical role for sonic hedgehog signaling in the early expansion of the developing brain , 2002, Nature Neuroscience.

[228]  J. Pevsner,et al.  Postmortem brain abnormalities of the glutamate neurotransmitter system in autism , 2001, Neurology.

[229]  M. Ashburner,et al.  Gene Ontology: tool for the unification of biology , 2000, Nature Genetics.

[230]  S Povey,et al.  Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. , 1997, Science.

[231]  Hong Sun,et al.  TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta. , 1997, Cancer research.

[232]  J. Bressler,et al.  The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. , 1997, Genome research.

[233]  W. K. Alfred Yung,et al.  Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers , 1997, Nature Genetics.

[234]  M. Wigler,et al.  PTEN, a Putative Protein Tyrosine Phosphatase Gene Mutated in Human Brain, Breast, and Prostate Cancer , 1997, Science.

[235]  A Pickles,et al.  A broader phenotype of autism: the clinical spectrum in twins. , 1996, Journal of child psychology and psychiatry, and allied disciplines.

[236]  F. Apiou,et al.  Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization. , 1996, Cytogenetics and cell genetics.

[237]  A. Bailey,et al.  Autism as a strongly genetic disorder: evidence from a British twin study , 1995, Psychological Medicine.

[238]  Andrew P. McMahon,et al.  Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity , 1993, Cell.

[239]  S. Thomas,et al.  Identification and characterization of the tuberous sclerosis gene on chromosome 16 , 1993, Cell.

[240]  S. Pulst,et al.  Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2 , 1993, Nature.

[241]  N. Kley,et al.  A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. , 1993, Cell.

[242]  M. Boguski,et al.  cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. , 1991, Genomics.

[243]  Ben A. Oostra,et al.  Absence of expression of the FMR-1 gene in fragile X syndrome , 1991, Cell.

[244]  R I Richards,et al.  Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n , 1991, Science.

[245]  J. Sutcliffe,et al.  Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome , 1991, Cell.

[246]  B. Brownstein,et al.  Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. , 1990, Science.

[247]  P. O'Connell,et al.  Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus , 1990, Cell.

[248]  P. O'Connell,et al.  A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations , 1990, Cell.

[249]  C. Gillberg,et al.  A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. , 1989, Journal of child psychology and psychiatry, and allied disciplines.

[250]  C. Williams,et al.  Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons. , 1989, American journal of medical genetics.

[251]  D. Ledbetter,et al.  Deletions of proximal 15q without Prader-Willi syndrome. , 1987, American journal of medical genetics.

[252]  D. Ledbetter,et al.  Is Angelman syndrome an alternate result of del(15)(q11q13)? , 1987, American journal of medical genetics.

[253]  S. Latt,et al.  Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance. , 1987, American journal of medical genetics.

[254]  B. Freeman,et al.  Concordance for the syndrome of autism in 40 pairs of afflicted twins. , 1985, The American journal of psychiatry.

[255]  R. Spitzer,et al.  Dr. Spitzer and Ms. Williams Reply , 1980 .

[256]  R. Spitzer,et al.  DSM-III: the major achievements and an overview. , 1980, The American journal of psychiatry.

[257]  S. Folstein,et al.  Infantile autism: a genetic study of 21 twin pairs. , 1977, Journal of child psychology and psychiatry, and allied disciplines.