{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T12:41:36Z","timestamp":1763642496442,"version":"build-2065373602"},"reference-count":22,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2019,12]]},"DOI":"10.1016\/j.ejmg.2018.11.021","type":"journal-article","created":{"date-parts":[[2018,11,23]],"date-time":"2018-11-23T00:59:10Z","timestamp":1542934750000},"page":"103587","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome"],"prefix":"10.1016","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4607-4905","authenticated-orcid":false,"given":"D.","family":"Abdin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Rump","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6840-965X","authenticated-orcid":false,"given":"A.","family":"Tzschach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Sarnow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Schr\u00f6ck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Hackmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Di Donato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2018.11.021_bib1","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/j.canlet.2013.01.011","article-title":"Fusion genes and their discovery using high throughput sequencing","volume":"340","author":"Annala","year":"2013","journal-title":"Cancer Lett."},{"key":"10.1016\/j.ejmg.2018.11.021_bib2","doi-asserted-by":"crossref","DOI":"10.12688\/f1000research.7134.1","article-title":"Advances in understanding \u2013 genetic basis of intellectual disability","volume":"5","author":"Chiurazzi","year":"2016","journal-title":"F1000Research"},{"key":"10.1016\/j.ejmg.2018.11.021_bib3","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1016\/j.ajhg.2013.09.010","article-title":"SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant","volume":"93","author":"Dauber","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2018.11.021_bib4","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/nature21062","article-title":"Developmental Disorders, Prevalence and architecture of de novo mutations in developmental disorders","volume":"542","author":"Deciphering","year":"2017","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2018.11.021_bib5","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1038\/ejhg.2016.133","article-title":"Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature","volume":"25","author":"El Chehadeh","year":"2016","journal-title":"Eur. J. Hum. Genet.:EJHG"},{"key":"10.1016\/j.ejmg.2018.11.021_bib6","doi-asserted-by":"crossref","first-page":"e538","DOI":"10.1371\/journal.pone.0000538","article-title":"Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65)","volume":"2","author":"Hastings","year":"2007","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2018.11.021_bib7","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1038\/ejhg.2012.73","article-title":"CNVs leading to fusion transcripts in individuals with autism spectrum disorder","volume":"20","author":"Holt","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2018.11.021_bib8","doi-asserted-by":"crossref","first-page":"6888","DOI":"10.1038\/onc.2008.341","article-title":"Control of tumourigenesis by the Scribble\/Dlg\/Lgl polarity module","volume":"27","author":"Humbert","year":"2008","journal-title":"Oncogene"},{"key":"10.1016\/j.ejmg.2018.11.021_bib9","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1158\/1535-7163.MCT-09-0135","article-title":"Mutation-associated fusion cancer genes in solid tumors","volume":"8","author":"Kaye","year":"2009","journal-title":"Mol. Canc. Therapeut."},{"key":"10.1016\/j.ejmg.2018.11.021_bib10","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0069262","article-title":"Mutations in Planar Cell Polarity Gene SCRIB Are Associated with Spina Bifida","volume":"8","author":"Lei","year":"2013","journal-title":"PloS One"},{"key":"10.1016\/j.ejmg.2018.11.021_bib11","doi-asserted-by":"crossref","first-page":"20425","DOI":"10.1074\/jbc.M117.799452","article-title":"Structural basis for the differential interaction of Scribble PDZ domains with the guanine nucleotide exchange factor beta-PIX","volume":"292","author":"Lim","year":"2017","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ejmg.2018.11.021_bib12","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1038\/ejhg.2017.27","article-title":"PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features","volume":"25","author":"Low","year":"2017","journal-title":"Eur. J. Hum. Genet.:EJHG"},{"key":"10.1016\/j.ejmg.2018.11.021_bib13","doi-asserted-by":"crossref","first-page":"5102","DOI":"10.18632\/oncotarget.3244","article-title":"Haploinsufficiency of the c-myc transcriptional repressor FIR, as a dominant negative-alternative splicing model, promoted p53-dependent T-cell acute lymphoblastic leukemia progression by activating Notch 1","volume":"6","author":"Matsushita","year":"2015","journal-title":"Oncotarget"},{"key":"10.1016\/j.ejmg.2018.11.021_bib14","doi-asserted-by":"crossref","first-page":"4798474","DOI":"10.1155\/2017\/4798474","article-title":"Chimeric genes in deletions and duplications associated with intellectual disability","volume":"2017","author":"Mayo","year":"2017","journal-title":"Int J Genomics"},{"key":"10.1016\/j.ejmg.2018.11.021_bib15","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.jprot.2015.04.031","article-title":"The human RBPome: from genes and proteins to human disease","volume":"127","author":"Neelamraju","year":"2015","journal-title":"Journal of proteomics"},{"key":"10.1016\/j.ejmg.2018.11.021_bib16","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.fsi.2015.09.001","article-title":"The first echinoderm poly-U-binding factor 60 kDa (PUF60) from sea cucumber (Stichopus monotuberculatus): molecular characterization, inducible expression and involvement of apoptosis","volume":"47","author":"Ren","year":"2015","journal-title":"Fish Shellfish Immunol."},{"key":"10.1016\/j.ejmg.2018.11.021_bib17","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/humu.21662","article-title":"Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect","volume":"33","author":"Robinson","year":"2012","journal-title":"craniorachischisis, Human mutation"},{"year":"2017","series-title":"Eye Coloboma and Complex Cardiac Malformations Belong to the Clinical Spectrum of PUF60 Variants","author":"Santos-Simarro","key":"10.1016\/j.ejmg.2018.11.021_bib18"},{"key":"10.1016\/j.ejmg.2018.11.021_bib19","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.ejmg.2009.05.006","article-title":"An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions","volume":"52","author":"Verheij","year":"2009","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.11.021_bib20","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1002\/ajmg.a.37411","article-title":"First fetal case of the 8q24.3 contiguous genes syndrome","volume":"170a","author":"Wells","year":"2016","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.11.021_bib21","doi-asserted-by":"crossref","first-page":"E219","DOI":"10.1371\/journal.pbio.0020219","article-title":"A focused and efficient genetic screening strategy in the mouse: identification of mutations that disrupt cortical development","volume":"2","author":"Zarbalis","year":"2004","journal-title":"PLoS Biol."},{"key":"10.1016\/j.ejmg.2018.11.021_bib22","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1002\/ajmg.b.32574","article-title":"Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability","volume":"177","author":"Zhao","year":"2018","journal-title":"Am. J. Med. Genet. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721218303677?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721218303677?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:47:40Z","timestamp":1761709660000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721218303677"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12]]},"references-count":22,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["S1769721218303677"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.11.021","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2019,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.11.021","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"103587"}}