{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:07:44Z","timestamp":1791115664254,"version":"4.1.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2012,10,1]],"date-time":"2012-10-01T00:00:00Z","timestamp":1349049600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,10,1]],"date-time":"2012-10-01T00:00:00Z","timestamp":1349049600000},"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":3397,"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":[[2012,10]]},"DOI":"10.1038\/gim.2012.65","type":"journal-article","created":{"date-parts":[[2012,6,21]],"date-time":"2012-06-21T11:24:39Z","timestamp":1340277879000},"page":"868-876","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":57,"title":["Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A"],"prefix":"10.1016","volume":"14","author":[{"given":"Ian M.","family":"Campbell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana A.","family":"Yatsenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Hixson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyler","family":"Reimschisel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Usha","family":"Dayal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James W.","family":"Wheless","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Crunk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia","family":"Curry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Parkinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leona","family":"Fishman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J.","family":"Riviello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malgorzata J.M.","family":"Nowaczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Zeesman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bassem A.","family":"Bejjani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa G.","family":"Shaffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sau Wai","family":"Cheung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawel","family":"Stankiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Scaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/gim.2012.65_bb0010","author":"Molinari"},{"key":"10.1038\/gim.2012.65_bb0015","author":"Ohtahara"},{"key":"10.1038\/gim.2012.65_bb0020","author":"Zupanc"},{"key":"10.1038\/gim.2012.65_bb0025","author":"Ohtahara"},{"key":"10.1038\/gim.2012.65_bb0030","author":"Str\u00f8mme"},{"key":"10.1038\/gim.2012.65_bb0035","author":"Weaving"},{"key":"10.1038\/gim.2012.65_bb0040","author":"Kato"},{"key":"10.1038\/gim.2012.65_bb0045","author":"Saitsu"},{"key":"10.1038\/gim.2012.65_bb0050","doi-asserted-by":"crossref","unstructured":"Saitsu H, Osaka H, Sugiyama S, et al. Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). Am J Med Genet A 2011; e-pub ahead of print.","DOI":"10.1002\/ajmg.a.34363"},{"key":"10.1038\/gim.2012.65_bb0055","author":"Mignot"},{"key":"10.1038\/gim.2012.65_bb0060","author":"Saitsu"},{"key":"10.1038\/gim.2012.65_bb0065","author":"Otsuka"},{"key":"10.1038\/gim.2012.65_bb0070","author":"Saitsu"},{"key":"10.1038\/gim.2012.65_bb0075","author":"Milh"},{"key":"10.1038\/gim.2012.65_bb0080","author":"Hamdan"},{"key":"10.1038\/gim.2012.65_bb0085","author":"Deprez"},{"key":"10.1038\/gim.2012.65_bb0090","author":"Hamdan"},{"key":"10.1038\/gim.2012.65_bb0095","author":"Schulze"},{"key":"10.1038\/gim.2012.65_bb0100","author":"Burkhardt"},{"key":"10.1038\/gim.2012.65_bb0105","author":"Hata"},{"key":"10.1038\/gim.2012.65_bb0110","author":"Saitsu"},{"key":"10.1038\/gim.2012.65_bb0115","author":"Gilman"},{"key":"10.1038\/gim.2012.65_bb0120","author":"Pinto"},{"key":"10.1038\/gim.2012.65_bb0125","author":"Schaaf"},{"key":"10.1038\/gim.2012.65_bb0130","author":"Lupski"},{"key":"10.1038\/gim.2012.65_bb0135","author":"Shen"},{"key":"10.1038\/gim.2012.65_bb0140","author":"Kanazawa"},{"key":"10.1038\/gim.2012.65_bb0145","author":"Crutcher"},{"key":"10.1038\/gim.2012.65_bb0150","author":"Saitsu"},{"key":"10.1038\/gim.2012.65_bb0155","author":"Voas"},{"key":"10.1038\/gim.2012.65_bb0160","author":"Ogawa"},{"key":"10.1038\/gim.2012.65_bb0165","author":"Shoukier"},{"key":"10.1038\/gim.2012.65_bb0170","author":"Wooderchak"},{"key":"10.1038\/gim.2012.65_bb0175","author":"Mei-Zahav"},{"key":"10.1038\/gim.2012.65_bb0180","author":"Ozelius"},{"key":"10.1038\/gim.2012.65_bb0185","author":"Risch"},{"key":"10.1038\/gim.2012.65_bb0190","author":"Goodchild"},{"key":"10.1038\/gim.2012.65_bb0195","author":"Risch"},{"key":"10.1038\/gim.2012.65_bb0200","author":"Huang"},{"key":"10.1038\/gim.2012.65_bb0205","author":"Weterman"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/gim201265.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/gim201265","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S109836002102325X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S109836002102325X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/gim201265.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:42:18Z","timestamp":1761097338000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S109836002102325X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10]]},"references-count":40,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["S109836002102325X"],"URL":"https:\/\/doi.org\/10.1038\/gim.2012.65","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2012,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/gim.2012.65","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2012, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics","name":"copyright","label":"Copyright"}]}}