{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T10:09:54Z","timestamp":1792145394413,"version":"4.4.0"},"reference-count":86,"publisher":"Oxford University Press (OUP)","issue":"R1","license":[{"start":{"date-parts":[[2020,8,7]],"date-time":"2020-08-07T00:00:00Z","timestamp":1596758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"IMPACT","award":["JTC2018"],"award-info":[{"award-number":["JTC2018"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,9,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Disruption of chromatin structure due to epimutations is a leading genetic etiology of neurodevelopmental disorders, collectively known as chromatinopathies. We show that there is an increasing level of convergence from the high diversity of genes that are affected by mutations to the molecular networks and pathways involving the respective proteins, the disrupted cellular and subcellular processes, and their consequence for higher order cellular network function. This convergence is ultimately reflected by specific phenotypic features shared across the various chromatinopathies. Based on these observations, we propose that the commonly disrupted molecular and cellular anomalies might provide a rational target for the development of symptomatic interventions for defined groups of genetically distinct neurodevelopmental disorders.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa175","type":"journal-article","created":{"date-parts":[[2020,8,4]],"date-time":"2020-08-04T07:24:39Z","timestamp":1596525879000},"page":"R42-R50","source":"Crossref","is-referenced-by-count":65,"title":["The phenomenal epigenome in neurodevelopmental disorders"],"prefix":"10.1093","volume":"29","author":[{"given":"Ummi","family":"Ciptasari","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, 6500 HB Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"van Bokhoven","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, 6500 HB Nijmegen, The Netherlands"},{"name":"Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, 6500 HB Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,8,7]]},"reference":[{"key":"2020110419232336300_ref1","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1016\/j.cell.2015.05.002","article-title":"Highly parallel genome-wide expression profiling of individual cells using nanoliter droplets","volume":"161","author":"Macosko","year":"2015","journal-title":"Cell"},{"key":"2020110419232336300_ref2","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1038\/s41586-019-1411-0","article-title":"Advances in epigenetics link genetics to the environment and disease","volume":"571","author":"Cavalli","year":"2019","journal-title":"Nature"},{"key":"2020110419232336300_ref3","doi-asserted-by":"crossref","first-page":"6128","DOI":"10.1523\/JNEUROSCI.0296-07.2007","article-title":"Histone deacetylase inhibitors enhance memory and synaptic plasticity via CREB: CBP-dependent transcriptional activation","volume":"27","author":"Vecsey","year":"2007","journal-title":"J. Neurosci."},{"key":"2020110419232336300_ref4","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1016\/j.neuron.2011.05.019","article-title":"Epigenetic mechanisms in cognition","volume":"70","author":"Day","year":"2011","journal-title":"Neuron"},{"key":"2020110419232336300_ref5","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.nlm.2011.04.009","article-title":"Probing the role of HDACs and mechanisms of chromatin-mediated neuroplasticity","volume":"96","author":"Haggarty","year":"2011","journal-title":"Neurobiol. Learn. Mem."},{"key":"2020110419232336300_ref6","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.biocel.2008.08.009","article-title":"Genetic and epigenetic defects in mental retardation","volume":"41","author":"Kramer","year":"2009","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"2020110419232336300_ref7","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1146\/annurev-genet-110410-132512","article-title":"Genetic and epigenetic networks in intellectual disabilities","volume":"45","author":"Bokhoven","year":"2011","journal-title":"Annu. Rev. Genet."},{"key":"2020110419232336300_ref8","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.neuropharm.2013.12.025","article-title":"The genetics of cognitive epigenetics","volume":"80","author":"Kleefstra","year":"2014","journal-title":"Neuropharmacology"},{"key":"2020110419232336300_ref9","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1146\/annurev-genom-090613-094245","article-title":"Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states","volume":"15","author":"Fahrner","year":"2014","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"2020110419232336300_ref10","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1101\/gr.190629.115","article-title":"The Mendelian disorders of the epigenetic machinery","volume":"25","author":"Bjornsson","year":"2015","journal-title":"Genome Res."},{"key":"2020110419232336300_ref11","doi-asserted-by":"crossref","first-page":"R254","DOI":"10.1093\/hmg\/ddz174","article-title":"Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects","volume":"28","author":"Fahrner","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"2020110419232336300_ref12","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1101\/gr.239442.118","article-title":"Coexpression patterns define epigenetic regulators associated with neurological dysfunction","volume":"29","author":"Boukas","year":"2019","journal-title":"Genome Res."},{"key":"2020110419232336300_ref13","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.ajhg.2015.11.024","article-title":"Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules","volume":"98","author":"Kochinke","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"2020110419232336300_ref14","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/nature13772","article-title":"Synaptic, transcriptional and chromatin genes disrupted in autism","volume":"515","author":"De Rubeis","year":"2014","journal-title":"Nature"},{"key":"2020110419232336300_ref15","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1093\/nar\/gkn835","article-title":"AutDB: a gene reference resource for autism research","volume":"37","author":"Basu","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"2020110419232336300_ref16","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","article-title":"DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources","volume":"84","author":"Firth","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"2020110419232336300_ref17","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1093\/nar\/gki005","article-title":"STRING: known and predicted protein-protein associations, integrated and transferred across organisms","volume":"33","author":"von Mering","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"2020110419232336300_ref18","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/nrg3413","article-title":"From neural development to cognition: unexpected roles for chromatin","volume":"14","author":"Ronan","year":"2013","journal-title":"Nat. Rev. Genet."},{"key":"2020110419232336300_ref19","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1016\/j.stemcr.2018.04.014","article-title":"Epigenetic regulation by BAF complexes limits neural stem cell proliferation by suppressing Wnt signaling in late embryonic development","volume":"10","author":"Nguyen","year":"2018","journal-title":"Stem Cell Rep."},{"key":"2020110419232336300_ref20","doi-asserted-by":"crossref","first-page":"4885","DOI":"10.1038\/s41467-018-07193-y","article-title":"BAFopathies\u2019 DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes","volume":"9","author":"Aref-Eshghi","year":"2018","journal-title":"Nat. Commun."},{"key":"2020110419232336300_ref21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fnmol.2018.00252","article-title":"Mutational landscapes and phenotypic spectrum of SWI\/SNF-related intellectual disability disorders","volume":"11","author":"B\u00f6gershausen","year":"2018","journal-title":"Front. Mol. Neurosci."},{"key":"2020110419232336300_ref22","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.ajhg.2012.05.003","article-title":"Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability","volume":"91","author":"Kleefstra","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"2020110419232336300_ref23","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.cell.2019.10.044","article-title":"Recurrent SMARCB1 mutations reveal a nucleosome acidic patch interaction site that potentiates mSWI\/SNF complex chromatin remodeling","volume":"179","author":"Valencia","year":"2019","journal-title":"Cell"},{"key":"2020110419232336300_ref24","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1002\/ajmg.c.31415","article-title":"Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI\/SNF) complex: historical review and recent advances using next generation sequencing","volume":"166","author":"Kosho","year":"2014","journal-title":"Am. J. Med. Genet. Part C Semin. Med. Genet."},{"key":"2020110419232336300_ref25","doi-asserted-by":"crossref","first-page":"2893","DOI":"10.1101\/gad.1035902","article-title":"Histone methyltransferase activity associated with a human multiprotein complex containing the enhancer of zeste protein","volume":"16","author":"Kuzmichev","year":"2002","journal-title":"Genes Dev."},{"key":"2020110419232336300_ref26","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1002\/ajmg.c.31754","article-title":"PRC2-complex related dysfunction in overgrowth syndromes: a review of EZH2, EED, and SUZ12 and their syndromic phenotypes","volume":"181","author":"Cyrus","year":"2019","journal-title":"Am. J. Med. Genet. Part C Semin. Med. Genet."},{"key":"2020110419232336300_ref27","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.ajhg.2020.03.008","article-title":"DNA methylation signature for EZH2 functionally classifies sequence variants in three PRC2 complex genes","volume":"106","author":"Choufani","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"2020110419232336300_ref28","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.ajhg.2017.03.010","article-title":"Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability","volume":"100","author":"Tatton-Brown","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"2020110419232336300_ref29","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1038\/ng.2917","article-title":"Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability","volume":"46","author":"Tatton-Brown","year":"2014","journal-title":"Nat. Genet."},{"key":"2020110419232336300_ref30","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/s41588-018-0274-x","article-title":"Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of polycomb-regulated regions","volume":"51","author":"Heyn","year":"2019","journal-title":"Nat. Genet."},{"key":"2020110419232336300_ref31","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.molcel.2013.12.005","article-title":"The histone H3 lysine 9 methyltransferases G9a and GLP regulate polycomb repressive complex 2-mediated gene silencing","volume":"53","author":"Mozzetta","year":"2014","journal-title":"Mol. Cell"},{"key":"2020110419232336300_ref32","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1126\/scitranslmed.aai8312","article-title":"Loss of tumor suppressor KDM6A amplifies PRC2-regulated transcriptional repression in bladder cancer and can be targeted through inhibition of EZH2","volume":"9","author":"Ler","year":"2017","journal-title":"Sci. Transl. Med."},{"key":"2020110419232336300_ref33","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.ajhg.2011.11.021","article-title":"Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome","volume":"90","author":"Lederer","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"2020110419232336300_ref34","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1146\/annurev-biochem-051710-134100","article-title":"The COMPASS family of histone H3K4 methylases: mechanisms of regulation in development and disease pathogenesis","volume":"81","author":"Shilatifard","year":"2012","journal-title":"Annu. Rev. Biochem."},{"key":"2020110419232336300_ref35","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/s13148-019-0802-2","article-title":"KMT2C\/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies","volume":"12","author":"Lavery","year":"2020","journal-title":"Clin. Epigenetics"},{"key":"2020110419232336300_ref36","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.canlet.2019.05.024","article-title":"COMPASS ascending: emerging clues regarding the roles of MLL3\/KMT2C and MLL2\/KMT2D proteins in cancer","volume":"458","author":"Fagan","year":"2019","journal-title":"Cancer Lett."},{"key":"2020110419232336300_ref37","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1006864","article-title":"Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder","volume":"13","author":"Koemans","year":"2017","journal-title":"PLoS Genet."},{"key":"2020110419232336300_ref38","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1038\/s41588-018-0114-z","article-title":"UTX-mediated enhancer and chromatin remodeling suppresses myeloid leukemogenesis through noncatalytic inverse regulation of ETS and GATA programs","volume":"50","author":"Gozdecka","year":"2018","journal-title":"Nat. Genet."},{"key":"2020110419232336300_ref39","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.molcel.2017.06.028","article-title":"A UTX-MLL4-p300 transcriptional regulatory network coordinately shapes active enhancer landscapes for eliciting transcription","volume":"67","author":"Wang","year":"2017","journal-title":"Mol. Cell"},{"key":"2020110419232336300_ref40","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1016\/j.devcel.2018.05.022","article-title":"Dual requirement of CHD8 for chromatin landscape establishment and histone methyltransferase recruitment to promote CNS myelination and repair","volume":"45","author":"Zhao","year":"2018","journal-title":"Dev. Cell"},{"key":"2020110419232336300_ref41","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.tins.2013.11.005","article-title":"A de novo convergence of autism genetics and molecular neuroscience","volume":"37","author":"Krumm","year":"2014","journal-title":"Trends Neurosci."},{"key":"2020110419232336300_ref42","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.stem.2020.06.004","article-title":"A multiplex human pluripotent stem cell platform defines molecular and functional subclasses of autism-related genes","volume":"27","author":"Cederquist","year":"2020","journal-title":"Cell Stem Cell"},{"key":"2020110419232336300_ref43","doi-asserted-by":"crossref","first-page":"12842","DOI":"10.1074\/jbc.M117.785865","article-title":"Similarity in gene-regulatory networks suggests that cancer cells share characteristics of embryonic neural cells","volume":"292","author":"Zhang","year":"2017","journal-title":"J. Biol. Chem."},{"key":"2020110419232336300_ref44","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1002\/emmm.201201783","article-title":"Smurf2-mediated degradation of EZH2 enhances neuron differentiation and improves functional recovery after ischaemic stroke","volume":"5","author":"Yu","year":"2013","journal-title":"EMBO Mol. Med."},{"key":"2020110419232336300_ref45","doi-asserted-by":"crossref","first-page":"5184","DOI":"10.1523\/JNEUROSCI.4129-13.2014","article-title":"Ezh2 regulates adult hippocampal neurogenesis and memory","volume":"34","author":"Zhang","year":"2014","journal-title":"J. Neurosci."},{"key":"2020110419232336300_ref46","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fgene.2019.00422","article-title":"EZH2 regulates protein stability via recruiting USP7 to mediate neuronal gene expression in cancer cells","volume":"10","author":"Lei","year":"2019","journal-title":"Front. Genet."},{"key":"2020110419232336300_ref47","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1523\/JNEUROSCI.5404-10.2011","article-title":"Wnt signaling regulates neuronal differentiation of cortical intermediate progenitors","volume":"31","author":"Munji","year":"2011","journal-title":"J. Neurosci."},{"key":"2020110419232336300_ref48","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1002\/bies.201100021","article-title":"The time of timing: how polycomb proteins regulate neurogenesis","volume":"33","author":"Testa","year":"2011","journal-title":"Bioessays"},{"key":"2020110419232336300_ref49","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13072-018-0217-x","article-title":"JARID2 and the PRC2 complex regulate skeletal muscle differentiation through regulation of canonical Wnt signaling","volume":"11","author":"Adhikari","year":"2018","journal-title":"Epigenetics Chromatin"},{"key":"2020110419232336300_ref50","doi-asserted-by":"crossref","first-page":"4028","DOI":"10.1158\/0008-5472.CAN-10-3342","article-title":"EZH2-mediated concordant repression of Wnt antagonists promotes \u03b2-catenin-dependent hepatocarcinogenesis","volume":"71","author":"Cheng","year":"2011","journal-title":"Cancer Res."},{"key":"2020110419232336300_ref51","doi-asserted-by":"crossref","first-page":"e02439","DOI":"10.7554\/eLife.02439","article-title":"Distinct and separable roles for EZH2 in neurogenic astroglia","author":"Hwang","year":"2014","journal-title":"Elife"},{"key":"2020110419232336300_ref52","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/j.ajhg.2015.08.002","article-title":"Chromatin-remodeling-factor ARID1B represses Wnt\/\u03b2-catenin signaling","volume":"97","author":"Vasileiou","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"2020110419232336300_ref53","doi-asserted-by":"crossref","first-page":"1979","DOI":"10.1016\/j.celrep.2016.01.074","article-title":"Insertional mutagenesis identifies a STAT3\/Arid1b\/\u03b2-catenin pathway driving neurofibroma initiation","volume":"14","author":"Wu","year":"2016","journal-title":"Cell Rep."},{"key":"2020110419232336300_ref54","doi-asserted-by":"crossref","first-page":"1694","DOI":"10.1038\/s41593-017-0013-0","article-title":"Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior","volume":"20","author":"Jung","year":"2017","journal-title":"Nat. Neurosci."},{"key":"2020110419232336300_ref55","doi-asserted-by":"crossref","first-page":"3894","DOI":"10.1128\/MCB.00322-08","article-title":"CHD8 is an ATP-dependent chromatin remodeling factor that regulates \u03b2-catenin target genes","volume":"28","author":"Thompson","year":"2008","journal-title":"Mol. Cell. Biol."},{"key":"2020110419232336300_ref56","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1128\/MCB.06409-11","article-title":"Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-\u03b2-catenin signaling pathway","volume":"32","author":"Nishiyama","year":"2012","journal-title":"Mol. Cell. Biol."},{"key":"2020110419232336300_ref57","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1038\/nn.4400","article-title":"Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling","volume":"19","author":"Durak","year":"2016","journal-title":"Nat. Neurosci."},{"key":"2020110419232336300_ref58","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/ajmg.c.31749","article-title":"The CHD8 overgrowth syndrome: a detailed evaluation of an emerging overgrowth phenotype in 27 patients","volume":"181","author":"Ostrowski","year":"2019","journal-title":"Am. J. Med. Genet. Part C Semin. Med. Genet."},{"key":"2020110419232336300_ref59","doi-asserted-by":"crossref","first-page":"E4468","DOI":"10.1073\/pnas.1405266111","article-title":"CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors","volume":"111","author":"Sugathan","year":"2014","journal-title":"Proc. Natl. Acad. Sci."},{"key":"2020110419232336300_ref60","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.1038\/nn.4431","article-title":"When size matters: CHD8 in autism","volume":"19","author":"Scandaglia","year":"2016","journal-title":"Nat. Neurosci."},{"key":"2020110419232336300_ref61","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1126\/science.1086446","article-title":"Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2","volume":"302","author":"Chen","year":"2003","journal-title":"Science"},{"key":"2020110419232336300_ref62","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.celrep.2017.09.014","article-title":"Loss of Kdm5c causes spurious transcription and prevents the fine-tuning of activity-regulated enhancers in neurons","volume":"21","author":"Scandaglia","year":"2017","journal-title":"Cell Rep."},{"key":"2020110419232336300_ref63","doi-asserted-by":"crossref","first-page":"4089","DOI":"10.1093\/hmg\/ddz254","article-title":"Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders","volume":"28","author":"Poeta","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"2020110419232336300_ref64","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1016\/j.neuron.2009.11.019","article-title":"Control of cognition and adaptive behavior by the GLP\/G9a epigenetic suppressor complex","volume":"64","author":"Schaefer","year":"2009","journal-title":"Neuron"},{"key":"2020110419232336300_ref65","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1038\/nature10110","article-title":"Transcriptomic analysis of autistic brain reveals convergent molecular pathology","volume":"474","author":"Voineagu","year":"2011","journal-title":"Nature"},{"key":"2020110419232336300_ref66","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/s41398-017-0058-6","article-title":"Enriched expression of genes associated with autism spectrum disorders in human inhibitory neurons","volume":"8","author":"Wang","year":"2018","journal-title":"Transl. Psychiatry"},{"key":"2020110419232336300_ref67","first-page":"1","article-title":"Integrated analysis of brain transcriptome reveals convergent molecular pathways in autism spectrum disorder","volume":"10","author":"Li","year":"2019","journal-title":"Front. Psych."},{"key":"2020110419232336300_ref68","doi-asserted-by":"crossref","DOI":"10.1038\/s41380-020-0669-9","article-title":"Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder","author":"Griesi-Oliveira","year":"2020","journal-title":"Mol. Psychiatry"},{"key":"2020110419232336300_ref69","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fnins.2015.00477","article-title":"Mutations and modeling of the chromatin remodeler CHD8 define an emerging autism etiology","volume":"9","author":"Barnard","year":"2015","journal-title":"Front. Neurosci."},{"key":"2020110419232336300_ref70","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/j.neuron.2016.06.003","article-title":"Histone methylation by the Kleefstra syndrome protein EHMT1 mediates homeostatic synaptic scaling","volume":"91","author":"Benevento","year":"2016","journal-title":"Neuron"},{"key":"2020110419232336300_ref71","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.molcel.2008.05.023","article-title":"Mediator links epigenetic silencing of neuronal gene expression with X-linked mental retardation","volume":"31","author":"Ding","year":"2008","journal-title":"Mol. Cell"},{"key":"2020110419232336300_ref72","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1038\/nature05823","article-title":"The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation","volume":"447","author":"Tahiliani","year":"2007","journal-title":"Nature"},{"key":"2020110419232336300_ref73","doi-asserted-by":"crossref","first-page":"4950","DOI":"10.1093\/nar\/gky196","article-title":"Increased H3K9 methylation and impaired expression of protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome","volume":"46","author":"Iacono","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"2020110419232336300_ref74","doi-asserted-by":"crossref","first-page":"4477","DOI":"10.4161\/cc.9.22.13973","article-title":"REST and CoREST are transcriptional and epigenetic regulators of seminal neural fate decisions","volume":"9","author":"Qureshi","year":"2010","journal-title":"Cell Cycle"},{"key":"2020110419232336300_ref75","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1016\/j.celrep.2014.10.001","article-title":"Heterochromatin-mediated gene silencing facilitates the diversification of olfactory neurons","volume":"9","author":"Lyons","year":"2014","journal-title":"Cell Rep."},{"key":"2020110419232336300_ref76","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.celrep.2019.12.002","article-title":"Distinct pathogenic genes causing intellectual disability and autism exhibit a common neuronal network hyperactivity phenotype","volume":"30","author":"Frega","year":"2020","journal-title":"Cell Rep."},{"key":"2020110419232336300_ref77","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1034\/j.1601-183X.2003.00037.x","article-title":"Model of autism: increased ratio of excitation\/inhibition in key neural systems","volume":"2","author":"Rubenstein","year":"2003","journal-title":"Genes Brain Behav."},{"key":"2020110419232336300_ref78","doi-asserted-by":"crossref","first-page":"23","DOI":"10.12688\/f1000research.12155.1","article-title":"Inhibitory control of the excitatory\/inhibitory balance in psychiatric disorders","volume":"7","author":"Selten","year":"2018","journal-title":"F1000Res."},{"key":"2020110419232336300_ref79","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1016\/j.neuron.2016.02.017","article-title":"Unifying views of autism spectrum disorders: a consideration of autoregulatory feedback loops","volume":"89","author":"Mullins","year":"2016","journal-title":"Neuron"},{"key":"2020110419232336300_ref80","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1016\/j.neuron.2015.07.033","article-title":"Excitatory\/inhibitory balance and circuit homeostasis in autism spectrum disorders","volume":"87","author":"Nelson","year":"2015","journal-title":"Neuron"},{"key":"2020110419232336300_ref81","doi-asserted-by":"crossref","DOI":"10.1523\/ENEURO.0086-18.2018","article-title":"Loss of Mecp2 causes atypical synaptic and molecular plasticity of parvalbumin-expressing interneurons reflecting Rett syndrome-like sensorimotor defects","volume":"5","author":"Morello","year":"2018","journal-title":"eNeuro"},{"key":"2020110419232336300_ref82","doi-asserted-by":"crossref","first-page":"7834","DOI":"10.1038\/s41598-020-64066-5","article-title":"Arid1b haploinsufficiency in parvalbumin- or somatostatin-expressing interneurons leads to distinct ASD-like and ID-like behavior","volume":"10","author":"Smith","year":"2020","journal-title":"Sci. Rep."},{"key":"2020110419232336300_ref83","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1016\/j.neuron.2012.12.004","article-title":"NMDA receptor regulation prevents regression of visual cortical function in the absence of Mecp2","volume":"76","author":"Durand","year":"2012","journal-title":"Neuron"},{"key":"2020110419232336300_ref84","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1016\/j.biopsych.2015.08.018","article-title":"Chronic administration of the N-methyl-D-aspartate receptor antagonist ketamine improves Rett syndrome phenotype","volume":"79","author":"Patrizi","year":"2016","journal-title":"Biol. Psychiatry"},{"key":"2020110419232336300_ref85","doi-asserted-by":"crossref","first-page":"4928","DOI":"10.1038\/s41467-019-12947-3","article-title":"Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling","volume":"10","author":"Frega","year":"2019","journal-title":"Nat. Commun."},{"key":"2020110419232336300_ref86","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41467-017-00933-6","article-title":"Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability","volume":"8","author":"Reijnders","year":"2017","journal-title":"Nat. Commun."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddaa175\/33732164\/ddaa175.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/29\/R1\/R42\/33939120\/ddaa175.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/29\/R1\/R42\/33939120\/ddaa175.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T20:29:54Z","timestamp":1604521794000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/29\/R1\/R42\/5882585"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,7]]},"references-count":86,"journal-issue":{"issue":"R1","published-online":{"date-parts":[[2020,8,7]]},"published-print":{"date-parts":[[2020,9,30]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddaa175","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,9,15]]},"published":{"date-parts":[[2020,8,7]]}}}