{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T02:32:54Z","timestamp":1773282774671,"version":"3.50.1"},"reference-count":38,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T00:00:00Z","timestamp":1642550400000},"content-version":"vor","delay-in-days":1693,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2017,6]]},"DOI":"10.1038\/gim.2016.180","type":"journal-article","created":{"date-parts":[[2016,12,1]],"date-time":"2016-12-01T11:22:33Z","timestamp":1480591353000},"page":"701-710","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":20,"title":["Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features"],"prefix":"10.1016","volume":"19","author":[{"given":"Marie","family":"Bidart","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mich\u00e8le","family":"El Atifi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarra","family":"Miladi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Rendu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e9ronique","family":"Satre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre F.","family":"Ray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Bosson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7oise","family":"Devillard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daphn\u00e9","family":"Lehalle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Malan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanne","family":"Amiel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Antonietta","family":"Mencarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margherita","family":"Baldassarri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Renieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill","family":"Clayton-Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ga\u00eblle","family":"Vieville","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julien","family":"Thevenon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Amblard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7ois","family":"Berger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre-Simon","family":"Jouk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles","family":"Coutton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/gim.2016.180_bb0010","author":"Euskirchen"},{"key":"10.1038\/gim.2016.180_bb0015","author":"Brownlee"},{"key":"10.1038\/gim.2016.180_bb0020","first-page":"241","article-title":"Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI\/SNF) complex: historical review and recent advances using next generation sequencing","volume":"166C","author":"Jones","year":"2014","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1038\/gim.2016.180_bb0025","author":"Biegel"},{"key":"10.1038\/gim.2016.180_bb0030","author":"Tsurusaki"},{"key":"10.1038\/gim.2016.180_bb0035","author":"Coffin"},{"key":"10.1038\/gim.2016.180_bb0040","author":"Kosho"},{"key":"10.1038\/gim.2016.180_bb0045","author":"Santen"},{"key":"10.1038\/gim.2016.180_bb0050","author":"Coffin-Siris consortium"},{"key":"10.1038\/gim.2016.180_bb0055","first-page":"1","article-title":"Coffin\u2013Siris syndrome is a SWI\/SNF complex disorder","volume":"85","author":"Tsurusaki","year":"2013","journal-title":"Clin Genet"},{"key":"10.1038\/gim.2016.180_bb0060","author":"Wieczorek"},{"key":"10.1038\/gim.2016.180_bb0065","author":"Mari"},{"key":"10.1038\/gim.2016.180_bb0070","author":"Son"},{"key":"10.1038\/gim.2016.180_bb0075","author":"Coutton"},{"key":"10.1038\/gim.2016.180_bb0080","author":"Romero"},{"key":"10.1038\/gim.2016.180_bb0085","author":"Krawitz"},{"key":"10.1038\/gim.2016.180_bb0090","author":"Wu"},{"key":"10.1038\/gim.2016.180_bb0095","author":"Bidart"},{"key":"10.1038\/gim.2016.180_bb0100","author":"Santen"},{"key":"10.1038\/gim.2016.180_bb0105","author":"Shigetomi"},{"key":"10.1038\/gim.2016.180_bb0110","first-page":"6","article-title":"ARID1A is a tumor suppressor and inhibits glioma cell proliferation via the PI3K pathway","volume":"5","author":"Zeng","year":"2013","journal-title":"Head Neck Oncol"},{"key":"10.1038\/gim.2016.180_bb0115","author":"Lessard"},{"key":"10.1038\/gim.2016.180_bb0120","author":"Rakic"},{"key":"10.1038\/gim.2016.180_bb0125","author":"Barbelanne"},{"key":"10.1038\/gim.2016.180_bb0130","author":"Bicknell"},{"key":"10.1038\/gim.2016.180_bb0135","author":"Ostergaard"},{"key":"10.1038\/gim.2016.180_bb0140","author":"Morris-Rosendahl"},{"key":"10.1038\/gim.2016.180_bb0145","author":"Woods"},{"key":"10.1038\/gim.2016.180_bb0150","author":"Marthiens"},{"key":"10.1038\/gim.2016.180_bb0155","author":"Martin"},{"key":"10.1038\/gim.2016.180_bb0160","author":"Shaheen"},{"key":"10.1038\/gim.2016.180_bb0165","author":"Kishi"},{"key":"10.1038\/gim.2016.180_bb0170","author":"Sakai"},{"key":"10.1038\/gim.2016.180_bb0175","author":"Barber"},{"key":"10.1038\/gim.2016.180_bb0180","author":"Tassano"},{"key":"10.1038\/gim.2016.180_bb0185","author":"P\u00e9rez de Castro"},{"key":"10.1038\/gim.2016.180_bb0190","author":"Kleinjan"},{"key":"10.1038\/gim.2016.180_bb0195","author":"Blumenthal"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/gim2016180.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/gim2016180","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021022589?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021022589?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/doifinder\/10.1038\/gim.2016.180","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/www.nature.com\/articles\/gim2016180.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:47:20Z","timestamp":1761097640000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021022589"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6]]},"references-count":38,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["S1098360021022589"],"URL":"https:\/\/doi.org\/10.1038\/gim.2016.180","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2017,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/gim.2016.180","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics","name":"copyright","label":"Copyright"}]}}