Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
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[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.