{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T02:04:55Z","timestamp":1789524295385,"version":"build-2803163510"},"reference-count":18,"publisher":"Hindawi Limited","issue":"9","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1504,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2011,9]]},"DOI":"10.1002\/humu.21525","type":"journal-article","created":{"date-parts":[[2011,5,3]],"date-time":"2011-05-03T20:11:12Z","timestamp":1304453472000},"page":"1053-1062","source":"Crossref","is-referenced-by-count":71,"title":["Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes"],"prefix":"10.1155","volume":"32","author":[{"given":"Machteld","family":"Baetens","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lut","family":"Van Laer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim","family":"De Leeneer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Hellemans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"De Schrijver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hendrik","family":"Van De Voorde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolijn","family":"Renard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hal","family":"Dietz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald V.","family":"Lacro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bj\u00f6rn","family":"Menten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim","family":"Van Criekinge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"De Backer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"De Paepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"Loeys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Coucke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2011,7,20]]},"reference":[{"key":"10.1002\/humu.21525-BIB1|cit1","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/humu.10249","article-title":"Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database","volume":"22","author":"Collod-Beroud","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21525-BIB2|cit2","article-title":"Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations","volume":"25","author":"De Leeneer","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21525-BIB3|cit3","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R","article-title":"Revised diagnostic criteria for the Marfan syndrome","volume":"62","author":"De Paepe","year":"1996","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.21525-BIB4|cit4","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1186\/1471-2105-11-269","article-title":"Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline","volume":"11","author":"De Schrijver","year":"2010","journal-title":"BMC Bioinformatics"},{"key":"10.1002\/humu.21525-BIB5|cit5","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1126\/science.1149504","article-title":"Paired-end mapping reveals extensive structural variation in the human genome","volume":"318","author":"Korbel","year":"2007","journal-title":"Science"},{"key":"10.1002\/humu.21525-BIB6|cit6","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1016\/j.ahj.2007.06.024","article-title":"Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome","volume":"154","author":"Lacro","year":"2007","journal-title":"Am Heart J"},{"key":"10.1002\/humu.21525-BIB7|cit7","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/humu.20070","article-title":"Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome","volume":"24","author":"Loeys","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21525-BIB8|cit8","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/ng1511","article-title":"A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2","volume":"37","author":"Loeys","year":"2005","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21525-BIB9|cit9","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1136\/jmg.2009.072785","article-title":"The revised Ghent nosology for the Marfan syndrome","volume":"47","author":"Loeys","year":"2010","journal-title":"J Med Genet"},{"key":"10.1002\/humu.21525-BIB10|cit10","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1056\/NEJMoa055695","article-title":"Aneurysm syndromes caused by mutations in the TGF-beta receptor","volume":"355","author":"Loeys","year":"2006","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.21525-BIB11|cit11","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s00439-007-0371-x","article-title":"Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome","volume":"122","author":"Matyas","year":"2007","journal-title":"Hum Genet"},{"key":"10.1002\/humu.21525-BIB12|cit12","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1038\/nmeth.1516","article-title":"Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples","volume":"7","author":"Nijman","year":"2010","journal-title":"Nat Methods"},{"key":"10.1002\/humu.21525-BIB13|cit13","doi-asserted-by":"crossref","first-page":"8402","DOI":"10.1128\/JB.01404-07","article-title":"The complete genome sequence of Campylobacter jejuni strain 81116 (NCTC11828)","volume":"189","author":"Pearson","year":"2007","journal-title":"J Bacteriol"},{"key":"10.1002\/humu.21525-BIB14|cit14","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1038\/nmeth1110","article-title":"Multiplex amplification of large sets of human exons","volume":"4","author":"Porreca","year":"2007","journal-title":"Nat Methods"},{"key":"10.1002\/humu.21525-BIB15|cit15","first-page":"11","article-title":"Marfan syndrome: current and future clinical and genetic management of cardiovascular manifestations","volume":"5","author":"Pyeritz","year":"1993","journal-title":"Semin Thorac Cardiovasc Surg"},{"key":"10.1002\/humu.21525-BIB16|cit16","doi-asserted-by":"crossref","first-page":"3157","DOI":"10.1002\/ajmg.a.32595","article-title":"The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome","volume":"146A","author":"Rybczynski","year":"2008","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.21525-BIB17|cit17","doi-asserted-by":"crossref","first-page":"484","DOI":"10.2353\/jmoldx.2008.080027","article-title":"Keeping up with the next generation: massively parallel sequencing in clinical diagnostics","volume":"10","author":"ten Bosch","year":"2008","journal-title":"J Mol Diagn"},{"key":"10.1002\/humu.21525-BIB18|cit18","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1038\/nature06884","article-title":"The complete genome of an individual by massively parallel DNA sequencing","volume":"452","author":"Wheeler","year":"2008","journal-title":"Nature"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.21525","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.21525","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:52:39Z","timestamp":1672332759000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.21525"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,7,20]]},"references-count":18,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2011,9]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.21525","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2011,7,20]]}}}