{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:36:23Z","timestamp":1791081383262,"version":"4.1.0"},"reference-count":28,"publisher":"Oxford University Press (OUP)","issue":"25","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,12,20]]},"DOI":"10.1093\/hmg\/ddt366","type":"journal-article","created":{"date-parts":[[2013,8,1]],"date-time":"2013-08-01T21:48:24Z","timestamp":1375393704000},"page":"5121-5135","source":"Crossref","is-referenced-by-count":215,"title":["A comprehensive molecular study on Coffin\u2013Siris and Nicolaides\u2013Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling"],"prefix":"10.1093","volume":"22","author":[{"given":"Dagmar","family":"Wieczorek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"B\u00f6gershausen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo","family":"Beleggia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Steiner-Haldenst\u00e4tt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Pohl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Milz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcel","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Thiele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Altm\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Alanay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludger","family":"Klein-Hitpass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"B\u00f6hringer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Wollstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beate","family":"Albrecht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koray","family":"Boduroglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almuth","family":"Caliebe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystyna","family":"Chrzanowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozgur","family":"Cogulu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Cristofoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna Christina","family":"Czeschik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koenraad","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Dotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nursel","family":"Elcioglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blanca","family":"Gener","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timm O.","family":"Goecke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Krajewska-Walasek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Encarnaci\u00f3n","family":"Guill\u00e9n-Navarro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joussef","family":"Hayek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunnar","family":"Houge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esra","family":"Kilic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pelin \u00d6zlem","family":"Simsek-Kiper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanesa","family":"L\u00f3pez-Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alma","family":"Kuechler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Mari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annabella","family":"Marozza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8le","family":"Mathieu Dramard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Mikat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilles","family":"Morin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Morice-Picard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferda","family":"\u00d6zkinay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Renieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigrid","family":"Tinschert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Eda","family":"Utine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catheline","family":"Vilain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Vivarelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Zweier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sven","family":"Rahmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris","family":"Vermeesch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermann-Josef","family":"L\u00fcdecke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Zeschnigk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Wollnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,8,1]]},"reference":[{"key":"key\n\t\t\t\t20170503073507_DDT366C1","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1002\/cbic.201000455","article-title":"Mechanism(s) of SWI\/SNF-induced nucleosome mobilization","volume":"12","author":"Liu","year":"2011","journal-title":"Chembiochem."},{"key":"key\n\t\t\t\t20170503073507_DDT366C2","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\u2013Siris syndrome","volume":"44","author":"Santen","year":"2012","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503073507_DDT366C3","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ng.2219","article-title":"Mutations affecting components of the SWI\/SNF complex cause CoffinSiris syndrome","volume":"44","author":"Tsurusaki","year":"2012","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503073507_DDT366C4","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":"key\n\t\t\t\t20170503073507_DDT366C5","first-page":"433","article-title":"Mental retardation with absent fifth fingernail and terminal phalanx","volume":"119","author":"Coffin","year":"1970","journal-title":"Am. J. Dis. Child."},{"key":"key\n\t\t\t\t20170503073507_DDT366C6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/1096-8628(20010215)99:1<1::AID-AJMG1127>3.0.CO;2-A","article-title":"Coffin\u2013Siris syndrome: review and presentation of new cases from a questionnaire study","volume":"99","author":"Fleck","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170503073507_DDT366C7","first-page":"1993","article-title":"Coffin\u2013Siris syndrome","volume-title":"Gene Reviews [Internet]","author":"Schrier Vergano","year":"2013"},{"key":"key\n\t\t\t\t20170503073507_DDT366C8","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/ng.1105","article-title":"Heterozygous missense mutations in SMARCA2 cause Nicolaides\u2013Baraitser syndrome","volume":"44","author":"Van Houdt","year":"2012","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503073507_DDT366C9","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1097\/00019605-199307000-00007","article-title":"An unusual syndrome with mental retardation and sparse hair","volume":"2","author":"Nicolaides","year":"1993","journal-title":"Clin. Dysmorphol."},{"key":"key\n\t\t\t\t20170503073507_DDT366C10","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1002\/ajmg.a.32956","article-title":"Nicolaides\u2013Baraitser syndrome: Delineation of the phenotype","volume":"149A","author":"Sousa","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20170503073507_DDT366C11","article-title":"Coffin\u2013Siris syndrome is a SWI\/SNF complex disorder","author":"Tsurusaki","year":"2013","journal-title":"Clin. Genet"},{"key":"key\n\t\t\t\t20170503073507_DDT366C12","doi-asserted-by":"crossref","first-page":"2865","DOI":"10.1093\/bioinformatics\/btp394","article-title":"Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads","volume":"25","author":"Ye","year":"2009","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20170503073507_DDT366C13","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1038\/ng1040","article-title":"Mutations in PHF6 are associated with B\u00f6rjeson\u2013Forssman\u2013Lehmann syndrome","volume":"32","author":"Lower","year":"2002","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503073507_DDT366C14","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1159\/000330111","article-title":"PHF6 deletions may cause Borjeson\u2013Forssman\u2013Lehmann syndrome in females","volume":"1","author":"Berland","year":"2011","journal-title":"Mol. Syndromol."},{"key":"key\n\t\t\t\t20170503073507_DDT366C15","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1136\/jmg.2005.033084","article-title":"Mutation screening in Borjeson\u2013Forssman\u2013Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient","volume":"43","author":"Crawford","year":"2006","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170503073507_DDT366C16","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1016\/j.modgep.2007.06.007","article-title":"Protein and gene expression analysis of Phf6, the gene mutated in the B\u00f6rjeson\u2013Forssman\u2013Lehmann Syndrome of intellectual disability and obesity","volume":"7","author":"Voss","year":"2007","journal-title":"Gene Expr. Patterns"},{"key":"key\n\t\t\t\t20170503073507_DDT366C17","doi-asserted-by":"crossref","first-page":"4326","DOI":"10.1021\/pr3004369","article-title":"PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex","volume":"11","author":"Todd","year":"2012","journal-title":"J. Proteome Res."},{"key":"key\n\t\t\t\t20170503073507_DDT366C18","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1146\/annurev.biochem.77.062706.153223","article-title":"The biology of chromatin remodeling complexes","volume":"78","author":"Clapier","year":"2009","journal-title":"Annu. Rev. Biochem."},{"key":"key\n\t\t\t\t20170503073507_DDT366C19","doi-asserted-by":"crossref","first-page":"11258","DOI":"10.1073\/pnas.0809485106","article-title":"Opposing effects of SWI\/SNF and Mi-2\/NuRD chromatin remodeling complexes on epigenetic reprogramming by EBF and Pax5","volume":"106","author":"Gao","year":"2009","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170503073507_DDT366C20","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1002\/ajmg.a.35933","article-title":"Clinical correlations of mutations affecting six components of the SWI\/SNF complex: detailed description of 21 patients and a review of the literature","volume":"161","author":"Kosho","year":"2013","journal-title":"Am. J. Med. Genet. A."},{"key":"key\n\t\t\t\t20170503073507_DDT366C21","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1038\/ng.2552","article-title":"Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas","volume":"45","author":"Smith","year":"2013","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503073507_DDT366C22","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1136\/jmg.2008.060152","article-title":"Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1","volume":"46","author":"Swensen","year":"2009","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170503073507_DDT366C23","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.ajhg.2012.05.003","article-title":"Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability","volume":"91","author":"Kleefstra","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503073507_DDT366C24","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1007\/s00439-013-1295-2","article-title":"Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome","volume":"132","author":"Czeschik","year":"2013","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t20170503073507_DDT366C25","doi-asserted-by":"crossref","first-page":"e1001091","DOI":"10.1371\/journal.pbio.1001091","article-title":"Modernizing reference genome assemblies","volume":"9","author":"Church","year":"2011","journal-title":"PLoS Biol."},{"key":"key\n\t\t\t\t20170503073507_DDT366C26","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows\u2013Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20170503073507_DDT366C27","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"DePristo","year":"2011","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503073507_DDT366C28","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1002\/ajmg.a.31952","article-title":"Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion","volume":"146A","author":"Ronan","year":"2008","journal-title":"Am. J. Med. Genet. A"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/22\/25\/5121\/14140275\/ddt366.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T02:32:44Z","timestamp":1503455564000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddt366"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,1]]},"references-count":28,"journal-issue":{"issue":"25","published-online":{"date-parts":[[2013,8,1]]},"published-print":{"date-parts":[[2013,12,20]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddt366","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2013,8,1]]}}}