{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:54:05Z","timestamp":1792144445231,"version":"4.4.0"},"reference-count":37,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2013,8,30]],"date-time":"2013-08-30T00:00:00Z","timestamp":1377820800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2013,8,30]],"date-time":"2013-08-30T00:00:00Z","timestamp":1377820800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2013,11]]},"DOI":"10.1002\/humu.22394","type":"journal-article","created":{"date-parts":[[2013,8,8]],"date-time":"2013-08-08T15:22:25Z","timestamp":1375975345000},"page":"1519-1528","source":"Crossref","is-referenced-by-count":204,"title":["Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients"],"prefix":"10.1155","volume":"34","author":[{"given":"Gijs W.E.","family":"Santen","sequence":"first","affiliation":[{"name":"Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmelien","family":"Aten","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneke T.","family":"Vulto-van Silfhout","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Radboud University Medical Centre; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Pottinger","sequence":"additional","affiliation":[{"name":"All Wales Medical Genetics Service; Glan Clwyd Hospital; Rhyl UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bregje W.M.","family":"van Bon","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Radboud University Medical Centre; Nijmegen The Netherlands"},{"name":"Nijmegen Center for Molecular Life Sciences; Institute for Genetic and Metabolic Disease; Radboud University Medical Centre; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivonne J.H.M.","family":"van Minderhout","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronelle","family":"Snowdowne","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian A.C.","family":"van der Lans","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merel","family":"Boogaard","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margot M.L.","family":"Linssen","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Vijfhuizen","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiel J.R.","family":"van der Wielen","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.J. Ellen","family":"Vollebregt","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the Coffin-Siris consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martijn H.","family":"Breuning","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolein","family":"Kriek","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arie","family":"van Haeringen","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands"},{"name":"Department of Clinical Genetics; Juliana Children's Hospital-Haga Teaching Hospital; The Hague The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan T.","family":"den Dunnen","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Hoischen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Radboud University Medical Centre; Nijmegen The Netherlands"},{"name":"Nijmegen Center for Molecular Life Sciences; Institute for Genetic and Metabolic Disease; Radboud University Medical Centre; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton-Smith","sequence":"additional","affiliation":[{"name":"Manchester Biomedical Research Centre; MAHSC, St Mary's Hospital; Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert B.A.","family":"de Vries","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Radboud University Medical Centre; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C.M.","family":"Hennekam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Academic Medical Center; Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine J.","family":"van Belzen","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariam","family":"Almureikhi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anwar","family":"Baban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mafalda","family":"Barbosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tawfeg","family":"Ben-Omran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Berry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Bigoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Boute","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Brueton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ineke","family":"van der Burgt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Canham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate E.","family":"Chandler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystyna","family":"Chrzanowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda L.","family":"Collins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"de Toni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Dean","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolette S.","family":"den Hollander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leigh Anne","family":"Flore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Fryer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Gardham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"John M.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Harrison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Horn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolijn C.","family":"Jongmans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dragana","family":"Josifova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarina G.","family":"Kant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seema","family":"Kapoor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Kingston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Usha","family":"Kini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tjitske","family":"Kleefstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Krajewska-Walasek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Kramer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia M.","family":"Maas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Maciel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia M.S.","family":"Mancini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Maystadt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shane","family":"McKee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeff M.","family":"Milunsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Newbury-Ecob","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah M.","family":"Nikkel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Parker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis A.","family":"P\u00e9rez-Jurado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen P.","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Rooryck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debbie","family":"Shears","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Silengo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankur","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Smigiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Soares","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miranda","family":"Splitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Sweeney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"May","family":"Tassabehji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beyhan","family":"Tuysuz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albertien M.","family":"van Eerde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Vincent-Delorme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise C.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gozde","family":"Yesil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,8,30]]},"reference":[{"key":"10.1002\/humu.22394-BIB0001|humu22394-cit-0001","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1002\/humu.22394-BIB0002|humu22394-cit-0002","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1002\/ajmg.a.32111","article-title":"Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome","volume":"146","author":"Baban","year":"2008","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22394-BIB0003|humu22394-cit-0003","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","article-title":"Diagnostic exome sequencing in persons with severe intellectual disability","volume":"367","author":"Ligt","year":"2012","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.22394-BIB0004|humu22394-cit-0004","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/humu.21438","article-title":"LOVD v.2.0: the next generation in gene variant databases","volume":"32","author":"Fokkema","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22394-BIB0005|humu22394-cit-0005","doi-asserted-by":"crossref","first-page":"6656","DOI":"10.1073\/pnas.0801802105","article-title":"ES cell pluripotency and germ-layer formation require the SWI\/SNF chromatin remodeling component BAF250a","volume":"105","author":"Gao","year":"2008","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22394-BIB0006|humu22394-cit-0006","doi-asserted-by":"crossref","first-page":"6718","DOI":"10.1158\/0008-5472.CAN-11-1562","article-title":"ARID1A, a factor that promotes formation of SWI\/SNF-mediated chromatin remodeling, is a tumor suppressor in gynecologic cancers","volume":"71","author":"Guan","year":"2011","journal-title":"Cancer Res"},{"key":"10.1002\/humu.22394-BIB0007|humu22394-cit-0007","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1111\/j.1399-0004.2011.01755.x","article-title":"Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B","volume":"82","author":"Halgren","year":"2012","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22394-BIB0008|humu22394-cit-0008","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1038\/cr.2011.32","article-title":"ATP-dependent chromatin remodeling: genetics, genomics and mechanisms","volume":"21","author":"Hargreaves","year":"2011","journal-title":"Cell Res"},{"key":"10.1002\/humu.22394-BIB0009|humu22394-cit-0009","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1002\/ajmg.a.31674","article-title":"What to call a syndrome","volume":"143A","author":"Hennekam","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22394-BIB0010|humu22394-cit-0010","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1002\/humu.22048","article-title":"Next-generation sequencing demands next-generation phenotyping","volume":"33","author":"Hennekam","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22394-BIB0011|humu22394-cit-0011","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":"10.1002\/humu.22394-BIB0036|humu22394-cit-0036","unstructured":"Huisman 2013 PMID 10.1136\/jmedgenet-2012-101477"},{"key":"10.1002\/humu.22394-BIB0037|humu22394-cit-0037","unstructured":"Kleefstra 2012 PMID 10.1116\/j.ajhg.2012.05.003"},{"key":"10.1002\/humu.22394-BIB0012|humu22394-cit-0012","doi-asserted-by":"crossref","first-page":"1673","DOI":"10.1128\/MCB.00540-09","article-title":"Mammalian SWI\/SNF-a subunit BAF250\/ARID1 is an E3 ubiquitin ligase that targets histone H2B","volume":"30","author":"Li","year":"2010","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.22394-BIB0013|humu22394-cit-0013","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12122","article-title":"RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family","author":"Maystadt","year":"2013","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22394-BIB0014|humu22394-cit-0014","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.22394-BIB0015|humu22394-cit-0015","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1016\/S0140-6736(12)61480-9","article-title":"Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study","volume":"380","author":"Rauch","year":"2012","journal-title":"Lancet"},{"key":"10.1002\/humu.22394-BIB0016|humu22394-cit-0016","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1038\/nature11213","article-title":"Novel mutations target distinct subgroups of medulloblastoma","volume":"488","author":"Robinson","year":"2012","journal-title":"Nature"},{"key":"10.1002\/humu.22394-BIB0017|humu22394-cit-0017","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/nrg3413","article-title":"From neural development to cognition: unexpected roles for chromatin","volume":"14","author":"Ronan","year":"2013","journal-title":"Nat Rev Genet"},{"key":"10.1002\/humu.22394-BIB0018|humu22394-cit-0018","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1038\/modpathol.2011.217","article-title":"Loss of ARID1A\/BAF250a-expression in endometriosis: a biomarker for risk of carcinogenic transformation","volume":"25","author":"Samartzis","year":"2012","journal-title":"Mod Pathol"},{"key":"10.1002\/humu.22394-BIB0019|humu22394-cit-0019","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-Siris syndrome","volume":"44","author":"Santen","year":"2012a","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22394-BIB0020|humu22394-cit-0020","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.4161\/epi.22299","article-title":"SWI\/SNF complex in disorder: SWItching from malignancies to intellectual disability","volume":"7","author":"Santen","year":"2012b","journal-title":"Epigenetics"},{"key":"10.1002\/humu.22394-BIB0021|humu22394-cit-0021","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.ajhg.2010.01.013","article-title":"Germline nonsense mutation and somatic inactivation of SMARCA4\/BRG1 in a family with rhabdoid tumor predisposition syndrome","volume":"86","author":"Schneppenheim","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22394-BIB0022|humu22394-cit-0022","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.1002\/ajmg.a.35415","article-title":"The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases","volume":"158A","author":"Schrier","year":"2012","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22394-BIB0023|humu22394-cit-0023","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat Methods"},{"key":"10.1002\/humu.22394-BIB0024|humu22394-cit-0024","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1086\/302639","article-title":"Constitutional mutations of the hSNF5\/INI1 gene predispose to a variety of cancers","volume":"65","author":"Sevenet","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22394-BIB0025|humu22394-cit-0025","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":"10.1002\/humu.22394-BIB0026|humu22394-cit-0026","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1002\/ajmg.a.32956","article-title":"Nicolaides-Baraitser syndrome: delineation of the phenotype","volume":"149A","author":"Sousa","year":"2009","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22394-BIB0027|humu22394-cit-0027","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1038\/nature11017","article-title":"The landscape of cancer genes and mutational processes in breast cancer","volume":"486","author":"Stephens","year":"2012","journal-title":"Nature"},{"key":"10.1002\/humu.22394-BIB0028|humu22394-cit-0028","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":"10.1002\/humu.22394-BIB0029|humu22394-cit-0029","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ng.2219","article-title":"Mutations affecting components of the SWI\/SNF complex cause Coffin-Siris syndrome","volume":"44","author":"Tsurusaki","year":"2012","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22394-BIB0030|humu22394-cit-0030","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/ng.1105","article-title":"Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome","volume":"44","author":"Van Houdt","year":"2012","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22394-BIB0031|humu22394-cit-0031","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1038\/ng.982","article-title":"Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer","volume":"43","author":"Wang","year":"2011","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22394-BIB0032|humu22394-cit-0032","doi-asserted-by":"crossref","first-page":"1532","DOI":"10.1056\/NEJMoa1008433","article-title":"ARID1A mutations in endometriosis-associated ovarian carcinomas","volume":"363","author":"Wiegand","year":"2010","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.22394-BIB0033|humu22394-cit-0033","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1038\/nrc3068","article-title":"SWI\/SNF nucleosome remodellers and cancer","volume":"11","author":"Wilson","year":"2011","journal-title":"Nat Rev Cancer"},{"key":"10.1002\/humu.22394-BIB0034|humu22394-cit-0034","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1159\/000337323","article-title":"In-frame deletion and missense mutations of the C-terminal Helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome","volume":"2","author":"Wolff","year":"2012","journal-title":"Mol Syndromol"},{"key":"10.1002\/humu.22394-BIB0035|humu22394-cit-0035","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1038\/ng.2246","article-title":"Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes","volume":"44","author":"Zang","year":"2012","journal-title":"Nat Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22394","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22394","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22394\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,3]],"date-time":"2023-07-03T19:17:58Z","timestamp":1688411878000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22394"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,30]]},"references-count":37,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2013,11]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22394","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2013,8,30]]}}}