{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T03:52:59Z","timestamp":1773028379056,"version":"3.50.1"},"reference-count":33,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"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":[[2015,10]]},"DOI":"10.1016\/j.ejmg.2015.09.007","type":"journal-article","created":{"date-parts":[[2015,9,18]],"date-time":"2015-09-18T18:17:10Z","timestamp":1442600230000},"page":"562-568","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":31,"title":["Novel SMC1A frameshift mutations in children with developmental delay and epilepsy"],"prefix":"10.1016","volume":"58","author":[{"given":"Jessica H.R.","family":"Goldstein","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8044-7993","authenticated-orcid":false,"given":"Thipwimol","family":"Tim-aroon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Shieh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Merrill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristin K.","family":"Deeb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shulin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy E.","family":"Bass","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jirair K.","family":"Bedoyan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.ejmg.2015.09.007_bib1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen","year":"1992","journal-title":"Am. J. Hum. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2015.09.007_bib2","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1136\/jmedgenet-2014-102573","article-title":"Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism","volume":"51","author":"Ansari","year":"2014","journal-title":"J.\u00a0Med. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2015.09.007_bib3","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/humu.9478","article-title":"Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations","volume":"28","author":"Borck","year":"2007","journal-title":"Hum. Mutat."},{"issue":"7031","key":"10.1016\/j.ejmg.2015.09.007_bib4","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1038\/nature03479","article-title":"X-inactivation profile reveals extensive variability in X-linked gene expression in females","volume":"434","author":"Carrel","year":"2005","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2015.09.007_bib5","series-title":"GeneReviews\u00ae [Internet]","first-page":"1993","article-title":"Cornelia de Lange Syndrome","author":"Deardorff","year":"2005"},{"issue":"3","key":"10.1016\/j.ejmg.2015.09.007_bib6","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1086\/511888","article-title":"Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation","volume":"80","author":"Deardorff","year":"2007","journal-title":"Am. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2015.09.007_bib7","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1016\/j.ajhg.2012.04.019","article-title":"RAD21 mutations cause a human cohesinopathy","volume":"90","author":"Deardorff","year":"2012","journal-title":"Am. J. Hum. Genet."},{"issue":"7415","key":"10.1016\/j.ejmg.2015.09.007_bib8","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/nature11316","article-title":"HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle","volume":"489","author":"Deardorff","year":"2012","journal-title":"Nature"},{"issue":"11","key":"10.1016\/j.ejmg.2015.09.007_bib9","doi-asserted-by":"crossref","first-page":"2909","DOI":"10.1002\/ajmg.a.36252","article-title":"Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum","volume":"161A","author":"Gervasini","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"issue":"4","key":"10.1016\/j.ejmg.2015.09.007_bib10","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1086\/424698","article-title":"NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations","volume":"75","author":"Gillis","year":"2004","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2015.09.007_bib11","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1002\/ajmg.a.34360","article-title":"In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome","volume":"158A","author":"Hoppman-Chaney","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"issue":"11","key":"10.1016\/j.ejmg.2015.09.007_bib12","doi-asserted-by":"crossref","first-page":"2888","DOI":"10.1093\/hmg\/ddu002","article-title":"Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance","volume":"23","author":"Kaiser","year":"2014","journal-title":"Hum. Mol. Genet."},{"issue":"30","key":"10.1016\/j.ejmg.2015.09.007_bib13","doi-asserted-by":"crossref","first-page":"12306","DOI":"10.1073\/pnas.0701244104","article-title":"Recognition of polyadenosine RNA by zinc finger proteins","volume":"104","author":"Kelly","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"6","key":"10.1016\/j.ejmg.2015.09.007_bib14","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1038\/ng1364","article-title":"Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B","volume":"36","author":"Krantz","year":"2004","journal-title":"Nat. Genet."},{"issue":"8","key":"10.1016\/j.ejmg.2015.09.007_bib15","doi-asserted-by":"crossref","first-page":"2127","DOI":"10.1002\/ajmg.a.33486","article-title":"Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A","volume":"152A","author":"Limongelli","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"issue":"11","key":"10.1016\/j.ejmg.2015.09.007_bib16","doi-asserted-by":"crossref","first-page":"1535","DOI":"10.1002\/humu.21095","article-title":"SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome","volume":"30","author":"Liu","year":"2009","journal-title":"Hum. Mutat."},{"issue":"1","key":"10.1016\/j.ejmg.2015.09.007_bib17","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1002\/humu.21129","article-title":"Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease","volume":"31","author":"Mannini","year":"2010","journal-title":"Hum. Mutat."},{"issue":"1","key":"10.1016\/j.ejmg.2015.09.007_bib18","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1002\/ajmg.a.34384","article-title":"SMC1A codon 496 mutations affect the cellular response to genotoxic treatments","volume":"158A","author":"Mannini","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"issue":"12","key":"10.1016\/j.ejmg.2015.09.007_bib19","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1002\/humu.22430","article-title":"Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome","volume":"34","author":"Mannini","year":"2013","journal-title":"Hum. Mutat."},{"issue":"5","key":"10.1016\/j.ejmg.2015.09.007_bib20","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1038\/ng1779","article-title":"X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations","volume":"38","author":"Musio","year":"2006","journal-title":"Nat. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2015.09.007_bib21","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.ejpn.2006.01.005","article-title":"Anoxic-epileptic seizures in Cornelia de Lange syndrome: case report of epileptic seizures induced by obstructive apnea","volume":"10","author":"Nechay","year":"2006","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"30","key":"10.1016\/j.ejmg.2015.09.007_bib22","doi-asserted-by":"crossref","first-page":"12390","DOI":"10.1073\/pnas.1107103108","article-title":"Mutation of the conserved polyadenosine RNA binding protein, ZC3H14\/dNab2, impairs neural function in Drosophila and humans","volume":"108","author":"Pak","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"7","key":"10.1016\/j.ejmg.2015.09.007_bib23","doi-asserted-by":"crossref","first-page":"973","DOI":"10.4161\/epi.28903","article-title":"Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls","volume":"9","author":"Parenti","year":"2014","journal-title":"Epigenetics"},{"key":"10.1016\/j.ejmg.2015.09.007_bib24","first-page":"1","article-title":"Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype","author":"Parenti","year":"2015","journal-title":"Clin. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2015.09.007_bib25","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/j.braindev.2013.12.008","article-title":"Epileptic features in Cornelia de Lange syndrome: case report and literature review","volume":"36","author":"Pavlidis","year":"2014","journal-title":"Brain Dev."},{"key":"10.1016\/j.ejmg.2015.09.007_bib26","first-page":"e1","article-title":"Clinical utility gene card for: Cornelia de Lange syndrome","author":"Ramos","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2015.09.007_bib27","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1093\/hmg\/ddn369","article-title":"Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA","volume":"18","author":"Revenkova","year":"2009","journal-title":"Hum. Mol. Genet."},{"issue":"7","key":"10.1016\/j.ejmg.2015.09.007_bib28","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1002\/ajmg.a.33441","article-title":"Facial diagnosis of mild and variant CdLS: insights from a dysmorphologist survey","volume":"152A","author":"Rohatgi","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"issue":"2","key":"10.1016\/j.ejmg.2015.09.007_bib29","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1399-0004.2007.00832.x","article-title":"Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation","volume":"72","author":"Selicorni","year":"2007","journal-title":"Clin. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2015.09.007_bib30","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1038\/ng1363","article-title":"NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome","volume":"36","author":"Tonkin","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2015.09.007_bib31","first-page":"1","article-title":"Next-generation sequencing in X-linked intellectual disability","author":"Tzschach","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2015.09.007_bib32","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1016\/j.seizure.2013.01.017","article-title":"Epilepsy in patients with Cornelia de Lange syndrome: a clinical series","volume":"22","author":"Verrotti","year":"2013","journal-title":"Seizure"},{"issue":"10","key":"10.1016\/j.ejmg.2015.09.007_bib33","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1172\/JCI22562","article-title":"Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography","volume":"114","author":"Wartiovaara","year":"2004","journal-title":"J.\u00a0Clin. Invest."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721215300197?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721215300197?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:42:18Z","timestamp":1761709338000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721215300197"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10]]},"references-count":33,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["S1769721215300197"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2015.09.007","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2015,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel SMC1A frameshift mutations in children with developmental delay and epilepsy","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2015.09.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}