{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T14:51:32Z","timestamp":1781189492081,"version":"3.54.1"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T00:00:00Z","timestamp":1768694400000},"content-version":"vor","delay-in-days":3009,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Netherlands Cardiovascular Research Initiative of the Dutch Heart Foundation","award":["CVON2012\u201310"],"award-info":[{"award-number":["CVON2012\u201310"]}]},{"name":"Netherlands Cardiovascular Research Initiative of the Dutch Heart Foundation","award":["CVON 2015\u201312"],"award-info":[{"award-number":["CVON 2015\u201312"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,4,1]]},"DOI":"10.1002\/ejhf.1030","type":"journal-article","created":{"date-parts":[[2017,10,23]],"date-time":"2017-10-23T04:02:35Z","timestamp":1508731355000},"page":"803-806","source":"Crossref","is-referenced-by-count":19,"title":["The First Titin (c.59926 + 1G &amp;gt; A) Founder Mutation Associated with Dilated Cardiomyopathy"],"prefix":"10.1093","volume":"20","author":[{"given":"Edgar T.","family":"Hoorntje","sequence":"first","affiliation":[{"name":"Department of Genetics, University of Groningen, University Medical Centre Groningen , Groningen ,","place":["the Netherlands"]},{"name":"Netherlands Heart Institute , Utrecht ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin Y.","family":"van Spaendonck-Zwarts","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam , Amsterdam ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wouter P.","family":"te Rijdt","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University of Groningen, University Medical Centre Groningen , Groningen ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludolf","family":"Boven","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Groningen, University Medical Centre Groningen , Groningen ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aryan","family":"Vink","sequence":"additional","affiliation":[{"name":"Department of Pathology, University Medical Centre Utrecht , Utrecht ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasper J.","family":"van der Smagt","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Centre Utrecht , Utrecht ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Folkert W.","family":"Asselbergs","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Division Heart & Lungs, University Medical Centre Utrecht , Utrecht ,","place":["the Netherlands"]},{"name":"Durrer Centre for Cardiovascular Research, Netherlands Heart Institute , Utrecht ,","place":["the Netherlands"]},{"name":"Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"van Wijngaarden","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Deventer Hospital , Deventer ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric A.","family":"Hennekam","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Centre Utrecht , Utrecht ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yigal M.","family":"Pinto","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Academic Medical Centre , Amsterdam ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald H.","family":"Lekanne Deprez","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam , Amsterdam ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela Q.C.M.","family":"Barge-Schaapveld","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Leiden University Medical Centre , Leiden ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Bootsma","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Leiden University Medical Centre , Leiden ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakub","family":"Regieli","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Isala Clinics , Zwolle ,","place":["the Netherlands"]},{"name":"Heart Clinic , Amsterdam ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne M.","family":"Hoedemaekers","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Groningen, University Medical Centre Groningen , Groningen ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan D.H.","family":"Jongbloed","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Groningen, University Medical Centre Groningen , Groningen ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maarten P.","family":"van den Berg","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University of Groningen, University Medical Centre Groningen , Groningen ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Peter","family":"van Tintelen","sequence":"additional","affiliation":[{"name":"Netherlands Heart Institute , Utrecht ,","place":["the Netherlands"]},{"name":"Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam , Amsterdam ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,10,23]]},"reference":[{"key":"2026011721231053500_ejhf1030-bib-0001","doi-asserted-by":"crossref","first-page":"270ra6","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":"2026011721231053500_ejhf1030-bib-0002","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":"2026011721231053500_ejhf1030-bib-0003","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":"2026011721231053500_ejhf1030-bib-0004","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1038\/ng.3719","article-title":"Titin-truncating variants affect heart function in disease cohorts and the general population","volume":"49","author":"Schafer","year":"2017","journal-title":"Nat Genet"},{"key":"2026011721231053500_ejhf1030-bib-0005","doi-asserted-by":"crossref","first-page":"2027","DOI":"10.1200\/JCO.2006.06.9443","article-title":"Screening for a BRCA2 rearrangement in high-risk breast\/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes","volume":"25","author":"Machado","year":"2007","journal-title":"J Clin Oncol"},{"key":"2026011721231053500_ejhf1030-bib-0006","author":"The Genome of the Netherlands","year":"2016"},{"key":"2026011721231053500_ejhf1030-bib-0007","author":"The Exome Aggregation Consortium","year":"2016"},{"key":"2026011721231053500_ejhf1030-bib-0008","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":"2026011721231053500_ejhf1030-bib-0009","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1038\/ng.3843","article-title":"Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation","volume":"49","author":"Christophersen","year":"2017","journal-title":"Nat Genet"}],"container-title":["European Journal of Heart Failure"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fejhf.1030","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/eurjhf\/article-pdf\/20\/4\/803\/66269894\/eurjhf_20_4_803.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/eurjhf\/article-pdf\/20\/4\/803\/66269894\/eurjhf_20_4_803.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T02:25:42Z","timestamp":1768703142000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/eurjhf\/article\/20\/4\/803\/8414800"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,23]]},"references-count":9,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2017,10,23]]},"published-print":{"date-parts":[[2018,4,1]]}},"URL":"https:\/\/doi.org\/10.1002\/ejhf.1030","relation":{},"ISSN":["1388-9842","1879-0844"],"issn-type":[{"value":"1388-9842","type":"print"},{"value":"1879-0844","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,4]]},"published":{"date-parts":[[2017,10,23]]}}}