{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T07:13:52Z","timestamp":1760166832663,"version":"build-2065373602"},"reference-count":22,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,12,13]],"date-time":"2021-12-13T00:00:00Z","timestamp":1639353600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100019018","name":"Chinese Academy of Medical Sciences Initiative for Innovative Medicine","doi-asserted-by":"publisher","award":["2016-I2M-1-016"],"award-info":[{"award-number":["2016-I2M-1-016"]}],"id":[{"id":"10.13039\/501100019018","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genomics"],"published-print":{"date-parts":[[2022,1]]},"DOI":"10.1016\/j.ygeno.2021.12.002","type":"journal-article","created":{"date-parts":[[2021,12,16]],"date-time":"2021-12-16T01:55:40Z","timestamp":1639619740000},"page":"196-201","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["A systematic study of mosaicism in heritable thoracic aortic aneurysm and dissection"],"prefix":"10.1016","volume":"114","author":[{"given":"Hang","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guoyan","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weizhen","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingyao","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yujing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yinhui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang","family":"Shu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhou","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ygeno.2021.12.002_bb0005","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1016\/j.jacc.2014.08.025","article-title":"Thoracic aortic aneurysm and dissection","volume":"64","author":"Goldfinger","year":"2014","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0010","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1161\/01.ATV.7.6.637","article-title":"Epidemiology of aortic aneurysms: I. Mortality trends in the United States, 1951 to 1981","volume":"7","author":"Lilienfeld","year":"1987","journal-title":"Arteriosclerosis."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0015","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/S0146-2806(97)80004-7","article-title":"Diagnosis and treatment of diseases of the aorta","volume":"22","author":"Lindsay","year":"1997","journal-title":"Curr. Probl. Cardiol."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0020","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1053\/j.semtcvs.2019.05.035","article-title":"Nonsyndromic thoracic aortic aneurysms and dissections\u2014is screening possible?","volume":"31","author":"Faggion Vinholo","year":"2019","journal-title":"Semin. Thorac. Cardiovasc. Surg."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0025","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1016\/j.athoracsur.2006.04.098","article-title":"Familial thoracic aortic aneurysms and dissections\u2014incidence, modes of inheritance, and phenotypic patterns","volume":"82","author":"Albornoz","year":"2006","journal-title":"Ann. Thorac. Surg."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0030","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.jacc.2018.04.089","article-title":"Clinical validity of genes for heritable thoracic aortic aneurysm and dissection","volume":"72","author":"Renard","year":"2018","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0035","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1002\/ajmg.c.31421","article-title":"Mosaicism and clinical genetics: american journal of medical genetics part c (seminars in medical genetics)","volume":"166","author":"Spinner","year":"2014","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0040","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1038\/nrg.2016.145","article-title":"Mosaicism in health and disease \u2014 clones picking up speed","volume":"18","author":"Forsberg","year":"2017","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0045","doi-asserted-by":"crossref","DOI":"10.1016\/j.cell.2021.07.024","article-title":"Developmental and temporal characteristics of clonal sperm mosaicism","author":"Yang","year":"2021","journal-title":"Cell."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0050","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1136\/jmg.40.2.109","article-title":"Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas","volume":"40","author":"Kluwe","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0055","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1038\/329554a0","article-title":"Germline mosaicism and Duchenne muscular dystrophy mutations","volume":"329","author":"Bakker","year":"1987","journal-title":"Nature."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0060","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1097\/GIM.0b013e318202e0f6","article-title":"Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance","volume":"13","author":"Pyott","year":"2011","journal-title":"Genet. Med."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0065","doi-asserted-by":"crossref","first-page":"1568","DOI":"10.1038\/s41436-018-0356-2","article-title":"Frequency of de novo variants and parental mosaicism in vascular Ehlers\u2013Danlos syndrome","volume":"21","author":"Legrand","year":"2019","journal-title":"Genet. Med."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0070","article-title":"A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome","author":"Fern\u00e1ndez-\u00c1lvarez","year":"2021","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0075","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1038\/s41431-020-00797-3","article-title":"Parental mosaicism in Marfan and Ehlers\u2013Danlos syndromes and related disorders","volume":"29","author":"Chesneau","year":"2021","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0080","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1186\/s12881-018-0661-2","article-title":"First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report","volume":"19","author":"Baban","year":"2018","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0085","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1038\/s41436-020-01078-6","article-title":"Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome","volume":"23","author":"Arnaud","year":"2021","journal-title":"Genet. Med."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0090","doi-asserted-by":"crossref","first-page":"33002","DOI":"10.1038\/srep33002","article-title":"Genetic testing of 248 Chinese aortopathy patients using a panel assay","volume":"6","author":"Yang","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0095","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/s13023-019-1282-3","article-title":"Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients","volume":"15","author":"Yang","year":"2020","journal-title":"Orphan. J. Rare Dis."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0100","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1038\/gim.2018.27","article-title":"Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta","volume":"20","author":"Yale Aortic Institute Data and Repository Team","year":"2018","journal-title":"Genet. Med."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0105","doi-asserted-by":"crossref","first-page":"400","DOI":"10.3389\/fphys.2017.00400","article-title":"Candidate gene resequencing in a large bicuspid aortic valve-associated thoracic aortic aneurysm cohort: SMAD6 as an important contributor","volume":"8","author":"Gillis","year":"2017","journal-title":"Front. Physiol."},{"key":"10.1016\/j.ygeno.2021.12.002_bb0110","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1126\/science.1239503","article-title":"Genome mosaicism--one human, multiple genomes","volume":"341","author":"Lupski","year":"2013","journal-title":"Science."}],"container-title":["Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0888754321004286?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0888754321004286?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:32:54Z","timestamp":1760164374000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0888754321004286"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["S0888754321004286"],"URL":"https:\/\/doi.org\/10.1016\/j.ygeno.2021.12.002","relation":{},"ISSN":["0888-7543"],"issn-type":[{"type":"print","value":"0888-7543"}],"subject":[],"published":{"date-parts":[[2022,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A systematic study of mosaicism in heritable thoracic aortic aneurysm and dissection","name":"articletitle","label":"Article Title"},{"value":"Genomics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ygeno.2021.12.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}