{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:27:12Z","timestamp":1791296832320,"version":"4.1.0"},"reference-count":43,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":80,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003132","name":"Agentschap voor Innovatie door Wetenschap en Technologie","doi-asserted-by":"publisher","award":["110700"],"award-info":[{"award-number":["110700"]}],"id":[{"id":"10.13039\/501100003132","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100002247","name":"National Marfan Foundation","doi-asserted-by":"publisher","award":["Ancillary grant"],"award-info":[{"award-number":["Ancillary grant"]}],"id":[{"id":"10.13039\/100002247","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["G.0221.12"],"award-info":[{"award-number":["G.0221.12"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001674","name":"Fondation Leducq","doi-asserted-by":"publisher","award":["12 CVD 03"],"award-info":[{"award-number":["12 CVD 03"]}],"id":[{"id":"10.13039\/501100001674","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["GA 309792"],"award-info":[{"award-number":["GA 309792"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007660","name":"University of Antwerp","doi-asserted-by":"crossref","award":["Lanceringsproject"],"award-info":[{"award-number":["Lanceringsproject"]}],"id":[{"id":"10.13039\/501100007660","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2015,8]]},"DOI":"10.1002\/humu.22802","type":"journal-article","created":{"date-parts":[[2015,4,23]],"date-time":"2015-04-23T10:29:22Z","timestamp":1429784962000},"page":"808-814","source":"Crossref","is-referenced-by-count":99,"title":["Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes"],"prefix":"10.1155","volume":"36","author":[{"given":"Dorien","family":"Proost","sequence":"first","affiliation":[{"name":"Department of Medical Genetics; Faculty of Medicine and Health Sciences; University of Antwerp and Antwerp University Hospital; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geert","family":"Vandeweyer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Faculty of Medicine and Health Sciences; University of Antwerp and Antwerp University Hospital; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josephina A.N.","family":"Meester","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Faculty of Medicine and Health Sciences; University of Antwerp and Antwerp University Hospital; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Salemink","sequence":"additional","affiliation":[{"name":"Department of Genetics; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlies","family":"Kempers","sequence":"additional","affiliation":[{"name":"Department of Genetics; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christie","family":"Ingram","sequence":"additional","affiliation":[{"name":"Department of Medicine; Vanderbilt University; Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nils","family":"Peeters","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Faculty of Medicine and Health Sciences; University of Antwerp and Antwerp University Hospital; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan","family":"Saenen","sequence":"additional","affiliation":[{"name":"Department of Cardiology; Faculty of Medicine and Health Sciences; University of Antwerp and Antwerp University Hospital; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiaan","family":"Vrints","sequence":"additional","affiliation":[{"name":"Department of Cardiology; Faculty of Medicine and Health Sciences; University of Antwerp and Antwerp University Hospital; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald V.","family":"Lacro","sequence":"additional","affiliation":[{"name":"Boston Children's Hospital; Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Roden","sequence":"additional","affiliation":[{"name":"Department of Medicine; Vanderbilt University; Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim","family":"Wuyts","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Faculty of Medicine and Health Sciences; University of Antwerp and Antwerp University Hospital; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry C.","family":"Dietz","sequence":"additional","affiliation":[{"name":"McKusick Nathans Institute for Genetic Medicine; Johns Hopkins University Hospital; Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geert","family":"Mortier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Faculty of Medicine and Health Sciences; University of Antwerp and Antwerp University Hospital; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart L.","family":"Loeys","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Faculty of Medicine and Health Sciences; University of Antwerp and Antwerp University Hospital; Antwerp Belgium"},{"name":"Department of Genetics; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lut","family":"Van Laer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Faculty of Medicine and Health Sciences; University of Antwerp and Antwerp University Hospital; Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,6,13]]},"reference":[{"key":"10.1002\/humu.22802-BIB0001|humu22802-cit-0001","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1002\/humu.21525","article-title":"Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes","volume":"32","author":"Baetens","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22802-BIB0002|humu22802-cit-0002","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1038\/ng1764","article-title":"Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome","volume":"38","author":"Coucke","year":"2006","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22802-BIB0003|humu22802-cit-0003","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"Pristo","year":"2011","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22802-BIB0004|humu22802-cit-0004","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/352337a0","article-title":"Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene","volume":"352","author":"Dietz","year":"1991","journal-title":"Nature"},{"key":"10.1002\/humu.22802-BIB0005|humu22802-cit-0005","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1038\/ng.2421","article-title":"Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm","volume":"44","author":"Doyle","year":"2012","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22802-BIB0006|humu22802-cit-0006","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/j.jacc.2009.08.084","article-title":"Thoracic aortic aneurysm clinically pertinent controversies and uncertainties","volume":"55","author":"Elefteriades","year":"2010","journal-title":"J Am Coll Cardiol"},{"key":"10.1002\/humu.22802-BIB0039|humu22802-cit-0039","unstructured":"Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA http:\/\/evs.gs.washington.edu\/EVS\/"},{"key":"10.1002\/humu.22802-BIB0007|humu22802-cit-0007","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/nature03940","article-title":"Mutations in NOTCH1 cause aortic valve disease","volume":"437","author":"Garg","year":"2005","journal-title":"Nature"},{"key":"10.1002\/humu.22802-BIB0008|humu22802-cit-0008","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1038\/ng.2007.6","article-title":"Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections","volume":"39","author":"Guo","year":"2007","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22802-BIB0009|humu22802-cit-0009","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.ajhg.2013.06.019","article-title":"Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections","volume":"93","author":"Guo","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22802-BIB0010|humu22802-cit-0010","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1038\/ejhg.2012.206","article-title":"Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus","volume":"21","author":"Harakalova","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22802-BIB0011|humu22802-cit-0011","article-title":"Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing","author":"Helsmoortel","year":"2014","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22802-BIB0012|humu22802-cit-0012","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1086\/504304","article-title":"Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome","volume":"78","author":"Hucthagowder","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22802-BIB0013|humu22802-cit-0013","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/S0741-5214(95)70227-X","article-title":"Ruptured thoracic aortic aneurysms: a study of incidence and mortality rates","volume":"21","author":"Johansson","year":"1995","journal-title":"J Vasc Surg"},{"key":"10.1002\/humu.22802-BIB0014|humu22802-cit-0014","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1186\/1471-2350-11-143","article-title":"The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus","volume":"11","author":"Keramati","year":"2010","journal-title":"BMC Med Genet"},{"key":"10.1002\/humu.22802-BIB0015|humu22802-cit-0015","doi-asserted-by":"crossref","first-page":"2061","DOI":"10.1056\/NEJMoa1404731","article-title":"Atenolol versus losartan in children and young adults with Marfan's syndrome","volume":"371","author":"Lacro","year":"2014","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.22802-BIB0016|humu22802-cit-0016","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.22802-BIB0017|humu22802-cit-0017","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1002\/humu.22802-BIB0018|humu22802-cit-0018","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1038\/ng.2349","article-title":"Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm","volume":"44","author":"Lindsay","year":"2012","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22802-BIB0019|humu22802-cit-0019","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1002\/humu.21517","article-title":"dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions","volume":"32","author":"Liu","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22802-BIB0020|humu22802-cit-0020","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.22802-BIB0021|humu22802-cit-0021","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/pd.223","article-title":"Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)","volume":"22","author":"Loeys","year":"2002","journal-title":"Prenat Diagn"},{"key":"10.1002\/humu.22802-BIB0022|humu22802-cit-0022","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.22802-BIB0040|humu22802-cit-0040","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.22802-BIB0023|humu22802-cit-0023","first-page":"3","article-title":"Cutadapt removes adapter sequences from high-throughput sequencing reads","volume":"17","author":"Martin","year":"2011","journal-title":"Embnet"},{"key":"10.1002\/humu.22802-BIB0024|humu22802-cit-0024","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res"},{"key":"10.1002\/humu.22802-BIB0025|humu22802-cit-0025","doi-asserted-by":"crossref","first-page":"2708","DOI":"10.1161\/01.CIR.94.11.2708","article-title":"Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms","volume":"94","author":"Milewicz","year":"1996","journal-title":"Circulation"},{"key":"10.1002\/humu.22802-BIB0026|humu22802-cit-0026","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1038\/ng1392","article-title":"Heterozygous TGFBR2 mutations in Marfan syndrome","volume":"36","author":"Mizuguchi","year":"2004","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22802-BIB0027|humu22802-cit-0027","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1186\/gm492","article-title":"A SNP profiling panel for sample tracking in whole-exome sequencing studies","volume":"5","author":"Pengelly","year":"2013","journal-title":"Genome Med"},{"key":"10.1002\/humu.22802-BIB0041|humu22802-cit-0041","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/nbt.1754","article-title":"Integrative genomics viewer","volume":"29","author":"Robinson","year":"2011","journal-title":"Nat Biotechnol"},{"key":"10.1002\/humu.22802-BIB0028|humu22802-cit-0028","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1007\/s00439-011-1105-7","article-title":"Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing","volume":"131","author":"Sakai","year":"2012","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22802-BIB0029|humu22802-cit-0029","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1212\/01.WNL.0000149512.79621.DF","article-title":"Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome","volume":"64","author":"Sheen","year":"2005","journal-title":"Neurology"},{"key":"10.1002\/humu.22802-BIB0030|humu22802-cit-0030","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1002\/humu.22332","article-title":"Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics","volume":"34","author":"Sikkema-Raddatz","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22802-BIB0031|humu22802-cit-0031","doi-asserted-by":"crossref","first-page":"6226","DOI":"10.1016\/S0021-9258(18)68776-9","article-title":"Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen","volume":"263","author":"Superti-Furga","year":"1988","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22802-BIB0032|humu22802-cit-0032","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1161\/CIRCULATIONAHA.108.795401","article-title":"Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications","volume":"119","author":"Tadros","year":"2009","journal-title":"Circulation"},{"key":"10.1002\/humu.22802-BIB0042|humu22802-cit-0042","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1093\/bib\/bbs017","article-title":"Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration","volume":"14","author":"Thorvaldsdottir","year":"2013","journal-title":"Brief Bioinform"},{"key":"10.1002\/humu.22802-BIB0033|humu22802-cit-0033","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1136\/jmg.2008.062844","article-title":"Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations","volume":"46","author":"Tran-Fadulu","year":"2009","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22802-BIB0034|humu22802-cit-0034","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1038\/ng.744","article-title":"Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis","volume":"43","author":"de Laar","year":"2011","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22802-BIB0035|humu22802-cit-0035","doi-asserted-by":"crossref","DOI":"10.1002\/0471250953.bi1110s43","article-title":"From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline","volume":"43","author":"der Auwera","year":"2013","journal-title":"Curr Protoc Bioinformatics"},{"key":"10.1002\/humu.22802-BIB0043|humu22802-cit-0043","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1471-2105-12-4","article-title":"CNV-WebStore: online CNV analysis, storage and interpretation","volume":"12","author":"Vandeweyer","year":"2011","journal-title":"BMC Bioinformatics"},{"key":"10.1002\/humu.22802-BIB0036|humu22802-cit-0036","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1186\/s13073-014-0074-6","article-title":"VariantDB: a flexible annotation and filtering portal for next generation sequencing data","volume":"6","author":"Vandeweyer","year":"2014","journal-title":"Genome Med"},{"key":"10.1002\/humu.22802-BIB0037|humu22802-cit-0037","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/j.ajhg.2010.10.006","article-title":"Mutations in myosin light chain kinase cause familial aortic dissections","volume":"87","author":"Wang","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22802-BIB0038|humu22802-cit-0038","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/ng1721","article-title":"Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm\/aortic dissection and patent ductus arteriosus","volume":"38","author":"Zhu","year":"2006","journal-title":"Nat Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22802","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22802\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:53:30Z","timestamp":1672332810000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22802"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,13]]},"references-count":43,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2015,8]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22802","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2015,6,13]]}}}