{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T09:51:12Z","timestamp":1787824272110,"version":"build-2784847793"},"reference-count":13,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"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":[[2023,1]]},"DOI":"10.1016\/j.ejmg.2022.104657","type":"journal-article","created":{"date-parts":[[2022,11,9]],"date-time":"2022-11-09T20:10:30Z","timestamp":1668024630000},"page":"104657","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7"],"prefix":"10.1016","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5501-6590","authenticated-orcid":false,"given":"Marissa L.","family":"Ledger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milja","family":"Kaare","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janette A.","family":"Mailo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shailly","family":"Jain-Ghai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2022.104657_bib1","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1186\/1471-2148-8-226","article-title":"Identification and characterization of novel human tissue-specific RFX transcription factors","volume":"8","author":"Aftab","year":"2008","journal-title":"BMC Evol. Biol."},{"issue":"10","key":"10.1016\/j.ejmg.2022.104657_bib2","doi-asserted-by":"crossref","first-page":"4417","DOI":"10.1128\/MCB.24.10.4417-4427.2004","article-title":"The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification","volume":"24","author":"Bonnafe","year":"2004","journal-title":"Mol. Cell Biol."},{"issue":"1","key":"10.1016\/j.ejmg.2022.104657_bib3","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1186\/1471-2148-10-130","article-title":"Convergent evolution of RFX transcription factors and ciliary genes predated the origin of metazoans","volume":"10","author":"Chu","year":"2010","journal-title":"BMC Evol. Biol."},{"issue":"5","key":"10.1016\/j.ejmg.2022.104657_bib4","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1093\/nar\/24.5.803","article-title":"RFX proteins, a novel family of DNA binding proteins conserved in the eukaryotic kingdom","volume":"24","author":"Emery","year":"1996","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ejmg.2022.104657_bib5","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1186\/1471-2431-13-59","article-title":"A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants","volume":"13","author":"Fenton","year":"2013","journal-title":"BMC Pediatr."},{"issue":"6","key":"10.1016\/j.ejmg.2022.104657_bib6","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1038\/s41436-021-01114-z","article-title":"Disruption of RFX family transcription factors causes autism, attention-deficit\/hyperactivity disorder, intellectual disability, and dysregulated behavior","volume":"23","author":"Harris","year":"2021","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2022.104657_bib7","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2020.543528","article-title":"Genomic analysis of Korean patient with microcephaly","volume":"11","author":"Lee","year":"2021","journal-title":"Front. Genet."},{"issue":"16","key":"10.1016\/j.ejmg.2022.104657_bib8","doi-asserted-by":"crossref","first-page":"9019","DOI":"10.1093\/nar\/gkaa625","article-title":"Interplay of RFX transcription factors 1, 2 and 3 in motile ciliogenesis","volume":"48","author":"Lemeille","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ejmg.2022.104657_bib9","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.mod.2014.02.001","article-title":"RFX7 is required for the formation of cilia in the neural tube","volume":"132","author":"Manojlovic","year":"2014","journal-title":"Mech. Dev."},{"issue":"6","key":"10.1016\/j.ejmg.2022.104657_bib10","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1210\/me.2003-0025","article-title":"RFX1 and NF-1 associate with P sequences of the human growth hormone locus in pituitary chromatin","volume":"17","author":"Norquay","year":"2003","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/j.ejmg.2022.104657_bib11","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"issue":"7538","key":"10.1016\/j.ejmg.2022.104657_bib12","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1038\/nature14132","article-title":"New genetic loci link adipose and insulin biology to body fat distribution","volume":"518","author":"Shungin","year":"2015","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.ejmg.2022.104657_bib13","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1186\/s12864-018-4564-6","article-title":"Characterization of the human RFX transcription factor family by regulatory and target gene analysis","volume":"19","author":"Sugiaman-Trapman","year":"2018","journal-title":"BMC Genom."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721222002385?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721222002385?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:53:24Z","timestamp":1761710004000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721222002385"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["S1769721222002385"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104657","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2023,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104657","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104657"}}