{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T16:15:47Z","timestamp":1780503347673,"version":"3.54.1"},"reference-count":39,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100004040","name":"KU Leuven","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004040","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2018,7]]},"DOI":"10.1016\/j.ejmg.2018.02.002","type":"journal-article","created":{"date-parts":[[2018,2,7]],"date-time":"2018-02-07T13:42:08Z","timestamp":1518010928000},"page":"376-383","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder"],"prefix":"10.1016","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9015-2803","authenticated-orcid":false,"given":"Nele","family":"Cosemans","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Vandenhove","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jarymke","family":"Maljaars","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilde","family":"Van Esch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koenraad","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Baldwin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilse","family":"Noens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilde","family":"Peeters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2018.02.002_bib1","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/nrg3031","article-title":"Exome sequencing as a tool for Mendelian disease gene discovery","volume":"12","author":"Bamshad","year":"2011","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ejmg.2018.02.002_bib2","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.cell.2014.06.017","article-title":"Disruptive CHD8 mutations define a subtype of autism early in development","volume":"158","author":"Bernier","year":"2014","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2018.02.002_bib3","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1097\/00004583-200211000-00019","article-title":"Screening young people for autism with the developmental behavior checklist","volume":"41","author":"Brereton","year":"2002","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"10.1016\/j.ejmg.2018.02.002_bib4","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/s13073-017-0433-1","article-title":"Genomic diagnosis for children with intellectual disability and\/or developmental delay","volume":"9","author":"Bowling","year":"2017","journal-title":"Genome Med."},{"key":"10.1016\/j.ejmg.2018.02.002_bib5","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1101\/gr.076166.108","article-title":"Mapping translocation breakpoints by next-generation sequencing","volume":"18","author":"Chen","year":"2008","journal-title":"Genome Res."},{"key":"10.1016\/j.ejmg.2018.02.002_bib6","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":"10.1016\/j.ejmg.2018.02.002_bib7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/nbt.2959","article-title":"Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping","volume":"32","author":"de Vree","year":"2014","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ejmg.2018.02.002_bib8","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":"10.1016\/j.ejmg.2018.02.002_bib9","first-page":"223","article-title":"Large-scale discovery of novel genetic causes of developmental disorders","volume":"519","author":"Fitzgerald","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2018.02.002_bib10","first-page":"51","article-title":"Malformative syndrome with trigonocephaly shallow orbits, ptosis, growth and mental retardation","volume":"36","author":"Fryns","year":"1996","journal-title":"Ann. Genet."},{"key":"10.1016\/j.ejmg.2018.02.002_bib11","doi-asserted-by":"crossref","first-page":"3324","DOI":"10.1038\/onc.2015.394","article-title":"Tumour-suppression function of KLF12 through regulation of anoikis","volume":"35","author":"Godin-Heymann","year":"2016","journal-title":"Oncogene"},{"key":"10.1016\/j.ejmg.2018.02.002_bib12","series-title":"Adaptive Behavior Assessment System","author":"Harrison","year":"2015"},{"key":"10.1016\/j.ejmg.2018.02.002_bib13","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1128\/MCB.19.1.194","article-title":"Transcriptional regulation of the AP-2alpha promoter by BTEB-1 and AP-2rep, a novel wt-1\/egr-related zinc finger repressor","volume":"19","author":"Imhof","year":"1999","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.ejmg.2018.02.002_bib14","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/nature13908","article-title":"The contribution of de novo coding mutations to autism spectrum disorder","volume":"13","author":"Iossifov","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2018.02.002_bib15","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/j.ajhg.2013.06.012","article-title":"Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing","volume":"93","author":"Jiang","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2018.02.002_bib16","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1097\/GIM.0b013e31822c79f9","article-title":"An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities","volume":"13","author":"Kaminsky","year":"2011","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2018.02.002_bib17","first-page":"656","article-title":"BLAT\u2013-The BLAST-like alignment tool","volume":"12","author":"Kent","year":"2002","journal-title":"Genome Res."},{"key":"10.1016\/j.ejmg.2018.02.002_bib18","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1101\/gr.229102","article-title":"The human genome browser at UCSC","volume":"12","author":"Kent","year":"2002","journal-title":"Genome Res."},{"key":"10.1016\/j.ejmg.2018.02.002_bib19","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1038\/ng.3303","article-title":"Excess of rare, inherited truncating mutations in autism","volume":"47","author":"Krumm","year":"2015","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2018.02.002_bib20","doi-asserted-by":"crossref","first-page":"D862","DOI":"10.1093\/nar\/gkv1222","article-title":"ClinVar: public archive of interpretations of clinically relevant variants","volume":"44","author":"Landrum","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ejmg.2018.02.002_bib21","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2018.02.002_bib22","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with Burrows-Wheeler transform","volume":"26","author":"Li","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ejmg.2018.02.002_bib23","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2\u2212\u0394\u0394CT method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"10.1016\/j.ejmg.2018.02.002_bib24","series-title":"Autism Diagnostic Observation Schedule","author":"Lord","year":"2012"},{"key":"10.1016\/j.ejmg.2018.02.002_bib25","series-title":"Manual for the Developmental Behaviour Checklist for Adults (DBC-A)","author":"Mohr","year":"2011"},{"key":"10.1016\/j.ejmg.2018.02.002_bib26","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/nature10989","article-title":"Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations","volume":"485","author":"O'Roak","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2018.02.002_bib27","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1038\/sj.ejhg.5200995","article-title":"Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32","volume":"11","author":"Ramocki","year":"2003","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2018.02.002_bib28","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1111\/cge.12654","article-title":"Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care","volume":"89","author":"Sawyer","year":"2016","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2018.02.002_bib29","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1016\/j.gde.2012.01.005","article-title":"The use of new technologies in the detection of balanced translocations in hematologic disorders","volume":"22","author":"Shaffer","year":"2012","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.ejmg.2018.02.002_bib30","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1097\/01.mcd.0000072161.33788.56","article-title":"Temtamy-like syndrome associated with translocation of 2p24 and 9q32","volume":"12","author":"Talisetti","year":"2003","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2018.02.002_bib31","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.ajhg.2011.03.013","article-title":"Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research","volume":"88","author":"Talkowski","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2018.02.002_bib32","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/j.cell.2012.03.028","article-title":"Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries","volume":"149","author":"Talkowski","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2018.02.002_bib33","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1136\/adc.45.244.755","article-title":"Standards for children's height at ages 2-9 years allowing for heights of parents","volume":"45","author":"Tanner","year":"1970","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ejmg.2018.02.002_bib34","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1093\/bib\/bbs017","article-title":"Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration","volume":"14","author":"Thorvaldsd\u00f3ttir","year":"2013","journal-title":"Brief. Bioinform"},{"key":"10.1016\/j.ejmg.2018.02.002_bib35","series-title":"Wechsler Adult Intelligence Scale","author":"Wechsler","year":"2012"},{"key":"10.1016\/j.ejmg.2018.02.002_bib36","first-page":"1","article-title":"Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay","author":"Weiss","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2018.02.002_bib37","series-title":"Diagnostic Interview For Social And Communication Disorders","author":"Wing","year":"2006"},{"key":"10.1016\/j.ejmg.2018.02.002_bib38","doi-asserted-by":"crossref","first-page":"D710","DOI":"10.1093\/nar\/gkv1157","article-title":"Ensembl 2016","volume":"44","author":"Yates","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ejmg.2018.02.002_bib39","article-title":"Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia","volume":"7","author":"Zhang","year":"2016","journal-title":"Nat. Commun."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217306390?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217306390?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:45:57Z","timestamp":1761709557000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721217306390"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":39,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["S1769721217306390"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.02.002","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2018,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.02.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}