{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:40:13Z","timestamp":1775306413230,"version":"3.50.1"},"reference-count":25,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100008173","name":"Intermountain Research and Medical Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008173","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ajconline.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Cardiology"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1016\/j.amjcard.2020.09.026","type":"journal-article","created":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T14:10:07Z","timestamp":1601302207000},"page":"97-102","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"special_numbering":"C","title":["Discovery of TITIN Gene Truncating Variant Mutations and 5-Year Outcomes in Patients With Nonischemic Dilated Cardiomyopathy"],"prefix":"10.1016","volume":"137","author":[{"given":"Jeffrey L.","family":"Anderson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. Bryce","family":"Christensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0357-1613","authenticated-orcid":false,"given":"Helaman","family":"Escobar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2656-0263","authenticated-orcid":false,"given":"Benjamin D.","family":"Horne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stacey","family":"Knight","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"Jacobs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kia","family":"Afshar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia B.","family":"Hebl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph B.","family":"Muhlestein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirk U.","family":"Knowlton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John F.","family":"Carlquist","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lincoln D.","family":"Nadauld","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.amjcard.2020.09.026_bib0001","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/S0140-6736(16)31713-5","article-title":"Dilated cardiomyopathy","volume":"390","author":"Weintraub","year":"2017","journal-title":"Lancet"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0002","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1161\/CIRCRESAHA.116.309396","article-title":"Dilated cardiomyopathy: genetic determinants and mechanisms","volume":"121","author":"McNally","year":"2017","journal-title":"Circ Res"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0003","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1111\/joim.12944","article-title":"Dilated cardiomyopathy: from epidemiologic to genetic phenotypes: a translational review of current literature","volume":"286","author":"Reichart","year":"2019","journal-title":"J Intern Med"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0004","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/nrcardio.2013.105","article-title":"Dilated cardiomyopathy: the complexity of a diverse genetic architecture","volume":"10","author":"Hershberger","year":"2013","journal-title":"Nat Rev Cardiol"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0005","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1517\/21678707.2015.1057498","article-title":"Diagnosis, prevalence, and screening of familial dilated cardiomyopathy","volume":"3","author":"Sweet","year":"2015","journal-title":"Expert Opin Orphan Drugs"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0006","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1161\/01.CIR.80.3.564","article-title":"Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984","volume":"80","author":"Codd","year":"1989","journal-title":"Circulation"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0007","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/s11886-018-1061-0","article-title":"Genetics of dilated cardiomyopathy","volume":"20","author":"Fu","year":"2018","journal-title":"Curr Cardiol Rep"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0008","doi-asserted-by":"crossref","first-page":"21","DOI":"10.3389\/fcvm.2016.00021","article-title":"A review of the giant protein titin in clinical molecular diagnostics of cardiomyopathies","volume":"3","author":"Gigli","year":"2016","journal-title":"Front Cardiovasc Med"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0009","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1056\/NEJMoa1110186","article-title":"Truncations of titin causing dilated cardiomyopathy","volume":"366","author":"Herman","year":"2012","journal-title":"N Engl J Med"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0010","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/s12551-017-0265-7","article-title":"Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy","volume":"9","author":"Tabish","year":"2017","journal-title":"Biophys Rev"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0011","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.3010134","article-title":"Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease","volume":"7","author":"Roberts","year":"2015","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0012","first-page":"982","article-title":"Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy","volume":"349","author":"Hinson","year":"2015","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0013","doi-asserted-by":"crossref","first-page":"e147","DOI":"10.1016\/j.jacc.2013.05.019","article-title":"2013 ACCF\/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation\/American Heart Association Task Force on Practice Guidelines","volume":"62","author":"Yancy","year":"2013","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0014","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1016\/j.jacc.2017.04.025","volume":"70","author":"Yancy","year":"2017","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0015","doi-asserted-by":"crossref","first-page":"2129","DOI":"10.1093\/eurheartj\/ehw128","volume":"37","author":"Ponikowski","year":"2016","journal-title":"Eur Heart J"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0016","first-page":"e210","article-title":"2017 AHA\/ACC\/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: executive summary","volume":"138","author":"Al-Khatib","year":"2018","journal-title":"Circulation"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0017","doi-asserted-by":"crossref","first-page":"2793","DOI":"10.1093\/eurheartj\/ehv316","volume":"36","author":"Priori","year":"2015","journal-title":"Eur Heart J"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0018","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1016\/S0002-8703(98)70123-1","article-title":"Implementation of a computerized cardiovascular information system in a private hospital setting","volume":"136","author":"Taylor","year":"1998","journal-title":"Am Heart J"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0019","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1056\/NEJMoa1110186","article-title":"Truncations of titin causing dilated cardiomyopathy","volume":"366","author":"Herman","year":"2012","journal-title":"N Engl J Med"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0020","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1111\/cge.12741","article-title":"Relevance of truncating titin mutations in dilated cardiomyopathy","volume":"90","author":"Akinrinade","year":"2016","journal-title":"Clin Genet"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0021","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0145284","article-title":"Prevalence of titin truncating variants in general population","volume":"10","author":"Akinrinade","year":"2015","journal-title":"PloS One"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0022","doi-asserted-by":"crossref","first-page":"2466","DOI":"10.1016\/j.jacc.2017.03.530","article-title":"Truncating variants in titin independently predict early arrhythmias in patients with dilated cardiomyopathy","volume":"69","author":"Tayal","year":"2017","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0023","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/ejhf.673","article-title":"Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy","volume":"19","author":"Jansweijer","year":"2017","journal-title":"Eur J Heart Fail"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0024","doi-asserted-by":"crossref","first-page":"4093","DOI":"10.1038\/s41598-019-39911-x","article-title":"Relevance of titin missense and non-frameshifting insertions\/deletions variants in dilated cardiomyopathy","volume":"9","author":"Akinrinade","year":"2019","journal-title":"Sci Rep"},{"key":"10.1016\/j.amjcard.2020.09.026_bib0025","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1016\/j.ijcard.2016.11.066","article-title":"Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy","volume":"228","author":"Dalin","year":"2017","journal-title":"Int J Cardiol"}],"container-title":["The American Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002914920310018?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002914920310018?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T06:36:01Z","timestamp":1757572561000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002914920310018"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":25,"alternative-id":["S0002914920310018"],"URL":"https:\/\/doi.org\/10.1016\/j.amjcard.2020.09.026","relation":{},"ISSN":["0002-9149"],"issn-type":[{"value":"0002-9149","type":"print"}],"subject":[],"published":{"date-parts":[[2020,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Discovery of TITIN Gene Truncating Variant Mutations and 5-Year Outcomes in Patients With Nonischemic Dilated Cardiomyopathy","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.amjcard.2020.09.026","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}