{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:51Z","timestamp":1786976871000,"version":"build-2736575974"},"reference-count":26,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T00:00:00Z","timestamp":1409184000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Evidence is now accumulating from a number of sequencing studies that\n                      <jats:italic>ARID1B<\/jats:italic>\n                      not only appears to be one of the most frequently mutated intellectual disability (ID) genes, but that the range of phenotypes caused by\n                      <jats:italic>ARID1B<\/jats:italic>\n                      mutations seems to be extremely wide. Thus, it is one of the most interesting ID genes identified so far in the exome sequencing era. In this article, we review the literature surrounding\n                      <jats:italic>ARID1B<\/jats:italic>\n                      and attempt to delineate the\n                      <jats:italic>ARID1B<\/jats:italic>\n                      phenotype. The vast majority of published\n                      <jats:italic>ARID1B<\/jats:italic>\n                      patients have been ascertained through studies of Coffin\u2013Siris syndrome (CSS), which leads to bias when documenting the frequencies of phenotypic features. Additional observations of those individuals ascertained through exome sequencing studies helps in delineation of the broader clinical phenotype. We are currently establishing an\n                      <jats:italic>ARID1B<\/jats:italic>\n                      consortium, aimed at collecting\n                      <jats:italic>ARID1B<\/jats:italic>\n                      patients identified through genome\u2010wide sequencing strategies. We hope that this endeavor will eventually lead to a more comprehensive view of the\n                      <jats:italic>ARID1B<\/jats:italic>\n                      phenotype. \u00a9 2014 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.c.31414","type":"journal-article","created":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T12:43:32Z","timestamp":1409229812000},"page":"276-289","source":"Crossref","is-referenced-by-count":87,"title":["The\n                    <i>ARID1B<\/i>\n                    phenotype: What we have learned so far"],"prefix":"10.1002","volume":"166","author":[{"given":"Gijs W.E.","family":"Santen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton\u2010Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the ARID1B\u2010CSS consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,8,28]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000321577"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.28705"},{"key":"e_1_2_5_4_1","first-page":"433","article-title":"Mental retardation with absent fifth fingernail and terminal phalanx","volume":"119","author":"Coffin GS","year":"1970","journal-title":"Am J Dis Child"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2011-12-9-228"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01755.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.007"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2628"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2013.200"},{"key":"e_1_2_5_10_1","first-page":"11","article-title":"The Philadelphia story: The 22q11.2 deletion: Report on 250 patients","volume":"10","author":"McDonald\u2010McGinn DM","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.220"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.24"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.12.1031"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2217"},{"key":"e_1_2_5_15_1","doi-asserted-by":"crossref","unstructured":"SantenGW AtenE Vulto\u2010van SilfhoutAT PottingerC van BonBW van MinderhoutIJ SnowdowneR van der LansCA BoogaardM LinssenMM VijfhuizenL van der WielenMJ VollebregtL BreuningMH KriekM vanHA den DunnenJT HoischenA Clayton\u2010SmithJ de VriesBB HennekamRC van BelzenMJ.2013. Coffin\u2013Siris syndrome and the BAF complex: Genotype\u2013phenotype study in 63 patients. Hum Mutat 34:1519\u20131528.","DOI":"10.1002\/humu.22394"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.4161\/epi.22299"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100721"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35415"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-43"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11017"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991105)87:1<17::AID-AJMG4>3.0.CO;2-G"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/00130832-200412000-00006"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2219"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12225"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.25"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36515"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt366"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31414","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31414","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T08:44:12Z","timestamp":1694594652000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31414"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,28]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["10.1002\/ajmg.c.31414"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31414","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,28]]}}}