{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T02:20:00Z","timestamp":1792808400994,"version":"4.5.0"},"reference-count":41,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2013,7,1]],"date-time":"2013-07-01T00:00:00Z","timestamp":1372636800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,1]],"date-time":"2013-07-01T00:00:00Z","timestamp":1372636800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2014,1,11]],"date-time":"2014-01-11T00:00:00Z","timestamp":1389398400000},"content-version":"vor","delay-in-days":194,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["Zw184\/1-1"],"award-info":[{"award-number":["Zw184\/1-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["01GS08160"],"award-info":[{"award-number":["01GS08160"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2013,7]]},"DOI":"10.1016\/j.ajhg.2013.05.007","type":"journal-article","created":{"date-parts":[[2013,6,6]],"date-time":"2013-06-06T11:50:56Z","timestamp":1370519456000},"page":"124-131","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":154,"title":["De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability"],"prefix":"10.1016","volume":"93","author":[{"given":"Anne","family":"Gregor","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Oti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelyn\u00a0N.","family":"Kouwenhoven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliane","family":"Hoyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinrich","family":"Sticht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arif\u00a0B.","family":"Ekici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Kjaergaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hendrik\u00a0G.","family":"Stunnenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Uebe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Vasileiou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huiqing","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Zweier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2013.05.007_bib1","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":"10.1016\/j.ajhg.2013.05.007_bib2","doi-asserted-by":"crossref","first-page":"30888","DOI":"10.1074\/jbc.R111.296491","article-title":"The chromatin fingerprint of gene enhancer elements","volume":"287","author":"Zentner","year":"2012","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.05.007_bib3","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":"van Bokhoven","year":"2011","journal-title":"Annu. Rev. Genet."},{"key":"10.1016\/j.ajhg.2013.05.007_bib4","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1086\/505693","article-title":"Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome","volume":"79","author":"Kleefstra","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.05.007_bib5","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.ajhg.2012.02.007","article-title":"Haploinsufficiency of ARID1B, a member of the SWI\/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability","volume":"90","author":"Hoyer","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.05.007_bib6","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/ng.2217","article-title":"Mutations in SWI\/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome","volume":"44","author":"Santen","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.05.007_bib7","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ng.2219","article-title":"Mutations affecting components of the SWI\/SNF complex cause Coffin-Siris syndrome","volume":"44","author":"Tsurusaki","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.05.007_bib8","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2013.05.007_bib9","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1242\/dev.065268","article-title":"CTCF: insights into insulator function during development","volume":"139","author":"Herold","year":"2012","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2013.05.007_bib10","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1038\/35013100","article-title":"Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene","volume":"405","author":"Bell","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.05.007_bib11","doi-asserted-by":"crossref","first-page":"1845","DOI":"10.1128\/MCB.01124-12","article-title":"Developmentally programmed 3\u2032 CpG island methylation confers tissue- and cell-type-specific transcriptional activation","volume":"33","author":"Yu","year":"2013","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2013.05.007_bib12","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1016\/S1097-2765(00)00101-5","article-title":"A chromatin insulator determines the nuclear localization of DNA","volume":"6","author":"Gerasimova","year":"2000","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2013.05.007_bib13","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1126\/science.1065982","article-title":"CTCF, a candidate trans-acting factor for X-inactivation choice","volume":"295","author":"Chao","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2013.05.007_bib14","doi-asserted-by":"crossref","first-page":"e1000138","DOI":"10.1371\/journal.pgen.1000138","article-title":"The insulator binding protein CTCF positions 20 nucleosomes around its binding sites across the human genome","volume":"4","author":"Fu","year":"2008","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2013.05.007_bib15","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1007\/s00412-010-0262-0","article-title":"CTCF shapes chromatin by multiple mechanisms: the impact of 20 years of CTCF research on understanding the workings of chromatin","volume":"119","author":"Ohlsson","year":"2010","journal-title":"Chromosoma"},{"key":"10.1016\/j.ajhg.2013.05.007_bib16","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1016\/j.cell.2009.06.001","article-title":"CTCF: master weaver of the genome","volume":"137","author":"Phillips","year":"2009","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2013.05.007_bib17","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1038\/ng.857","article-title":"CTCF-mediated functional chromatin interactome in pluripotent cells","volume":"43","author":"Handoko","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.05.007_bib18","doi-asserted-by":"crossref","first-page":"e34915","DOI":"10.1371\/journal.pone.0034915","article-title":"Loss of maternal CTCF is associated with peri-implantation lethality of Ctcf null embryos","volume":"7","author":"Moore","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2013.05.007_bib19","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.celrep.2012.06.014","article-title":"CTCF is required for neural development and stochastic expression of clustered Pcdh genes in neurons","volume":"2","author":"Hirayama","year":"2012","journal-title":"Cell Rep."},{"key":"10.1016\/j.ajhg.2013.05.007_bib20","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1038\/ng1629","article-title":"Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome","volume":"37","author":"Gicquel","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.05.007_bib21","doi-asserted-by":"crossref","first-page":"4085","DOI":"10.1073\/pnas.0500037102","article-title":"Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms\u2019 tumor","volume":"102","author":"Prawitt","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2013.05.007_bib22","doi-asserted-by":"crossref","first-page":"1748","DOI":"10.1101\/gr.136127.111","article-title":"Linking disease associations with regulatory information in the human genome","volume":"22","author":"Schaub","year":"2012","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2013.05.007_bib23","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1038\/nature06634","article-title":"Cohesin mediates transcriptional insulation by CCCTC-binding factor","volume":"451","author":"Wendt","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.05.007_bib24","doi-asserted-by":"crossref","first-page":"e83","DOI":"10.1182\/blood-2011-12-401471","article-title":"Commonly altered genomic regions in acute myeloid leukemia are enriched for somatic mutations involved in chromatin remodeling and splicing","volume":"120","author":"Dolnik","year":"2012","journal-title":"Blood"},{"key":"10.1016\/j.ajhg.2013.05.007_bib25","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/nature09727","article-title":"CREBBP mutations in relapsed acute lymphoblastic leukaemia","volume":"471","author":"Mullighan","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.05.007_bib26","doi-asserted-by":"crossref","first-page":"R25","DOI":"10.1186\/gb-2009-10-3-r25","article-title":"Ultrafast and memory-efficient alignment of short DNA sequences to the human genome","volume":"10","author":"Langmead","year":"2009","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2013.05.007_bib27","doi-asserted-by":"crossref","first-page":"R106","DOI":"10.1186\/gb-2010-11-10-r106","article-title":"Differential expression analysis for sequence count data","volume":"11","author":"Anders","year":"2010","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2013.05.007_bib28","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1101\/gr.180801","article-title":"Creating the gene ontology resource: design and implementation","volume":"11","author":"Consortium","year":"2001","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2013.05.007_bib29","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.bbr.2008.01.009","article-title":"Genes, plasticity and mental retardation","volume":"192","author":"Vaillend","year":"2008","journal-title":"Behav. Brain Res."},{"key":"10.1016\/j.ajhg.2013.05.007_bib30","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1038\/sj.emboj.7601550","article-title":"Identification of novel functional TBP-binding sites and general factor repertoires","volume":"26","author":"Denissov","year":"2007","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2013.05.007_bib31","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2013.05.007_bib32","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1093\/bioinformatics\/btr064","article-title":"FIMO: scanning for occurrences of a given motif","volume":"27","author":"Grant","year":"2011","journal-title":"Bioinformatics"},{"issue":"Web Server issue","key":"10.1016\/j.ajhg.2013.05.007_bib33","doi-asserted-by":"crossref","first-page":"W202","DOI":"10.1093\/nar\/gkp335","article-title":"MEME SUITE: tools for motif discovery and searching","volume":"37","author":"Bailey","year":"2009","journal-title":"Nucleic Acids Res."},{"issue":"Database issue","key":"10.1016\/j.ajhg.2013.05.007_bib34","doi-asserted-by":"crossref","first-page":"D105","DOI":"10.1093\/nar\/gkp950","article-title":"JASPAR 2010: the greatly expanded open-access database of transcription factor binding profiles","volume":"38","author":"Portales-Casamar","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2013.05.007_bib35","doi-asserted-by":"crossref","first-page":"2738","DOI":"10.1128\/MCB.00179-12","article-title":"Dynamic reconfiguration of long human genes during one transcription cycle","volume":"32","author":"Larkin","year":"2012","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2013.05.007_bib36","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature11247","article-title":"An integrated encyclopedia of DNA elements in the human genome","volume":"489","author":"Dunham","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.05.007_bib37","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1093\/bib\/bbs038","article-title":"The UCSC genome browser and associated tools","volume":"14","author":"Kuhn","year":"2013","journal-title":"Brief. Bioinform."},{"key":"10.1016\/j.ajhg.2013.05.007_bib38","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.cell.2011.12.014","article-title":"Extensive promoter-centered chromatin interactions provide a topological basis for transcription regulation","volume":"148","author":"Li","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2013.05.007_bib39","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1038\/nature07730","article-title":"ChIP-seq accurately predicts tissue-specific activity of enhancers","volume":"457","author":"Visel","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.05.007_bib40","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1093\/bioinformatics\/btq033","article-title":"BEDTools: a flexible suite of utilities for comparing genomic features","volume":"26","author":"Quinlan","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2013.05.007_bib41","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1080\/10618600.1996.10474713","article-title":"R: A language for data analysis and graphics","volume":"5","author":"Ihaka","year":"1996","journal-title":"J.\u00a0Comput. Graph. Statist."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713002206?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713002206?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:16:12Z","timestamp":1762078572000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929713002206"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7]]},"references-count":41,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["S0002929713002206"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.05.007","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2013,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.05.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}