{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:27:33Z","timestamp":1791296853735,"version":"4.1.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2015,3,1]],"date-time":"2015-03-01T00:00:00Z","timestamp":1425168000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,3,1]],"date-time":"2015-03-01T00:00:00Z","timestamp":1425168000000},"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":2516,"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":[[2015,3]]},"DOI":"10.1038\/gim.2014.91","type":"journal-article","created":{"date-parts":[[2014,8,7]],"date-time":"2014-08-07T11:18:06Z","timestamp":1407410286000},"page":"177-187","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":90,"title":["Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events"],"prefix":"10.1016","volume":"17","author":[{"given":"Linnea M.","family":"Baudhuin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrina E.","family":"Kotzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan A.","family":"Lagerstedt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/gim.2014.91_bb0010","author":"D\u00e9taint"},{"key":"10.1038\/gim.2014.91_bb0015","author":"Loeys"},{"key":"10.1038\/gim.2014.91_bb0020","author":"Ogawa"},{"key":"10.1038\/gim.2014.91_bb0025","author":"Howarth"},{"key":"10.1038\/gim.2014.91_bb0030","author":"Sakai"},{"key":"10.1038\/gim.2014.91_bb0035","author":"Loeys"},{"key":"10.1038\/gim.2014.91_bb0040","author":"Booms"},{"key":"10.1038\/gim.2014.91_bb0045","author":"Liang"},{"key":"10.1038\/gim.2014.91_bb0050","author":"Rommel"},{"key":"10.1038\/gim.2014.91_bb0055","author":"Schrijver"},{"key":"10.1038\/gim.2014.91_bb0060","author":"Wang"},{"key":"10.1038\/gim.2014.91_bb0065","author":"Comeglio"},{"key":"10.1038\/gim.2014.91_bb0070","author":"Arbustini"},{"key":"10.1038\/gim.2014.91_bb0075","author":"Loeys"},{"key":"10.1038\/gim.2014.91_bb0080","author":"Aoyama"},{"key":"10.1038\/gim.2014.91_bb0085","author":"Dietz"},{"key":"10.1038\/gim.2014.91_bb0090","author":"Rand-Hendriksen"},{"key":"10.1038\/gim.2014.91_bb0095","author":"Guo"},{"key":"10.1038\/gim.2014.91_bb0100","author":"Dietz"},{"key":"10.1038\/gim.2014.91_bb0105","author":"Liu"},{"key":"10.1038\/gim.2014.91_bb0110","author":"Schrijver"},{"key":"10.1038\/gim.2014.91_bb0115","author":"Karttunen"},{"key":"10.1038\/gim.2014.91_bb0120","author":"Hilhorst-Hofstee"},{"key":"10.1038\/gim.2014.91_bb0125","author":"Hutchinson"},{"key":"10.1038\/gim.2014.91_bb0130","author":"Loeys"},{"key":"10.1038\/gim.2014.91_bb0135","author":"Holm"},{"key":"10.1038\/gim.2014.91_bb0140","author":"Brooke"},{"key":"10.1038\/gim.2014.91_bb0145","author":"Nataatmadja"},{"key":"10.1038\/gim.2014.91_bb0150","author":"Comeglio"},{"key":"10.1038\/gim.2014.91_bb0155","author":"Hayward"},{"key":"10.1038\/gim.2014.91_bb0160","author":"Nijbroek"},{"key":"10.1038\/gim.2014.91_bb0165","author":"Hung"},{"key":"10.1038\/gim.2014.91_bb0170","author":"Hewett"},{"key":"10.1038\/gim.2014.91_bb0175","author":"M\u00e1ty\u00e1s"},{"key":"10.1038\/gim.2014.91_bb0180","author":"Youil"},{"key":"10.1038\/gim.2014.91_bb0185","author":"Tiecke"},{"key":"10.1038\/gim.2014.91_bb0190","author":"Halliday"},{"key":"10.1038\/gim.2014.91_bb0195","author":"Halliday"},{"key":"10.1038\/gim.2014.91_bb0200","author":"K\u00f6rkk\u00f6"},{"key":"10.1038\/gim.2014.91_bb0205","author":"Stheneur"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/gim201491.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/gim201491","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021028471?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021028471?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/gim201491.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:45:20Z","timestamp":1761097520000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021028471"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3]]},"references-count":40,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["S1098360021028471"],"URL":"https:\/\/doi.org\/10.1038\/gim.2014.91","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2015,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/gim.2014.91","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2015, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics","name":"copyright","label":"Copyright"}]}}