{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:20:23Z","timestamp":1791973223357,"version":"4.3.4"},"reference-count":21,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2017,7,1]],"date-time":"2017-07-01T00:00:00Z","timestamp":1498867200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,7,1]],"date-time":"2017-07-01T00:00:00Z","timestamp":1498867200000},"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":1663,"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":[[2017,7]]},"DOI":"10.1038\/gim.2016.181","type":"journal-article","created":{"date-parts":[[2016,12,1]],"date-time":"2016-12-01T11:22:33Z","timestamp":1480591353000},"page":"772-777","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":43,"title":["Evaluating the quality of Marfan genotype\u2013phenotype correlations in existing FBN1 databases"],"prefix":"10.1016","volume":"19","author":[{"given":"Kristian A.","family":"Groth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yskert","family":"Von Kodolitsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerstin","family":"Kutsche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mette","family":"Gaustadnes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kasper","family":"Thorsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niels H.","family":"Andersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claus H.","family":"Gravholt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/gim.2016.181_bb0010","author":"Beighton"},{"key":"10.1038\/gim.2016.181_bb0015","author":"Dietz"},{"key":"10.1038\/gim.2016.181_bb0020","author":"De Paepe"},{"key":"10.1038\/gim.2016.181_bb0025","author":"Loeys"},{"key":"10.1038\/gim.2016.181_bb0030","author":"Sheikhzadeh"},{"key":"10.1038\/gim.2016.181_bb0035","author":"ACMG Laboratory Quality Assurance Committee"},{"key":"10.1038\/gim.2016.181_bb0040","author":"von Kodolitsch"},{"key":"10.1038\/gim.2016.181_bb0045","author":"IARC Unclassified Genetic Variants Working Group"},{"key":"10.1038\/gim.2016.181_bb0050","author":"Faivre"},{"key":"10.1038\/gim.2016.181_bb0055","author":"Deans"},{"key":"10.1038\/gim.2016.181_bb0060","author":"Brookes"},{"key":"10.1038\/gim.2016.181_bb0065","author":"Groth"},{"key":"10.1038\/gim.2016.181_bb0070","author":"Collod-B\u00e9roud"},{"key":"10.1038\/gim.2016.181_bb0075","author":"Landrum"},{"key":"10.1038\/gim.2016.181_bb0080","author":"UniProt Consortium."},{"key":"10.1038\/gim.2016.181_bb0085","author":"Exome Aggregation Consortium"},{"key":"10.1038\/gim.2016.181_bb0090","author":"Ng"},{"key":"10.1038\/gim.2016.181_bb0095","author":"Schwarz"},{"key":"10.1038\/gim.2016.181_bb0100","author":"Dietz"},{"key":"10.1038\/gim.2016.181_bb0105","author":"Adzhubei"},{"key":"10.1038\/gim.2016.181_bb0110","author":"Adzhubei"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/gim2016181.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/gim2016181","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021022267?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021022267?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/doifinder\/10.1038\/gim.2016.181","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/www.nature.com\/articles\/gim2016181.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:47:08Z","timestamp":1761097628000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021022267"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7]]},"references-count":21,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["S1098360021022267"],"URL":"https:\/\/doi.org\/10.1038\/gim.2016.181","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2017,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Evaluating the quality of Marfan genotype\u2013phenotype correlations in existing FBN1 databases","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/gim.2016.181","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"}]}}