{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T01:17:17Z","timestamp":1768007837953,"version":"3.49.0"},"reference-count":28,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T00:00:00Z","timestamp":1485907200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100005689","name":"Gothenburg Medical Society","doi-asserted-by":"publisher","award":["GLS-250721"],"award-info":[{"award-number":["GLS-250721"]}],"id":[{"id":"10.13039\/501100005689","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005689","name":"Gothenburg Medical Society","doi-asserted-by":"publisher","award":["GLS-330701"],"award-info":[{"award-number":["GLS-330701"]}],"id":[{"id":"10.13039\/501100005689","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The Swedish Research Council"},{"name":"Swedish Heart\u2013Lung Foundation"},{"DOI":"10.13039\/501100004063","name":"Knut and Alice Wallenberg Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004063","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Bioinformatics Infrastructure for Life Sciences supported by the Swedish Research Council"},{"name":"Science for Life Laboratory"},{"name":"National Infrastructure for Large-Scale Sequencing"},{"name":"Uppsala Multidisciplinary Center for Advanced Computational Science"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","internationaljournalofcardiology.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["International Journal of Cardiology"],"published-print":{"date-parts":[[2017,2]]},"DOI":"10.1016\/j.ijcard.2016.11.066","type":"journal-article","created":{"date-parts":[[2016,11,9]],"date-time":"2016-11-09T09:15:12Z","timestamp":1478682912000},"page":"742-748","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"special_numbering":"C","title":["Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy"],"prefix":"10.1016","volume":"228","author":[{"given":"Martin G.","family":"Dalin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e4r G.","family":"Engstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emil G.","family":"Ivarsson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Per","family":"Unneberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Light","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Schaufelberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Gilljam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7957-2463","authenticated-orcid":false,"given":"Bert","family":"Andersson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin O.","family":"Bergo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ijcard.2016.11.066_bb0005","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1016\/j.amjcard.2011.06.022","article-title":"Review and metaanalysis of the frequency of familial dilated cardiomyopathy","volume":"108","author":"Petretta","year":"2011","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0010","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.ijcard.2016.11.066_bb0015","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1093\/eurheartj\/ehu301","article-title":"Atlas of the clinical genetics of human dilated cardiomyopathy","volume":"36","author":"Haas","year":"2015","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0020","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1126\/science.1219240","article-title":"Evolution and functional impact of rare coding variation from deep sequencing of human exomes","volume":"337","author":"Tennessen","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.ijcard.2016.11.066_bb0025","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1038\/ejhg.2012.283","article-title":"New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants","volume":"21","author":"Andreasen","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0030","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1161\/CIRCGENETICS.112.962928","article-title":"Population-based variation in cardiomyopathy genes","volume":"5","author":"Golbus","year":"2012","journal-title":"Circ. Cardiovasc. Genet."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0035","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1093\/eurjhf\/hfs191","article-title":"Gender-specific differences in major cardiac events and mortality in lamin A\/C mutation carriers","volume":"15","author":"van Rijsingen","year":"2013","journal-title":"Eur. J. Heart Fail."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0040","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1016\/j.jacc.2009.05.038","article-title":"Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy","volume":"54","author":"Brauch","year":"2009","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0045","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.1016\/j.cjca.2014.09.030","article-title":"Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians","volume":"30","author":"Chami","year":"2014","journal-title":"Can. J. Cardiol."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0050","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkq1005","article-title":"Targeted resequencing of candidate genes using selector probes","volume":"39","author":"Johansson","year":"2011","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0055","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/ng815","article-title":"Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy","volume":"30","author":"Gerull","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0060","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1006\/bbrc.2002.6448","article-title":"Titin mutations as the molecular basis for dilated cardiomyopathy","volume":"291","author":"Itoh-Satoh","year":"2002","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0065","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":"DePristo","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0070","doi-asserted-by":"crossref","first-page":"2069","DOI":"10.1093\/bioinformatics\/btq330","article-title":"Deriving the consequences of genomic variants with the Ensembl API and SNP effect predictor","volume":"26","author":"McLaren","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ijcard.2016.11.066_bb0075","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1001025","article-title":"Identifying a high fraction of the human genome to be under selective constraint using GERP++","volume":"6","author":"Davydov","year":"2010","journal-title":"PLoS Comput. Biol."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0080","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0085","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ijcard.2016.11.066_bb0090","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.ijcard.2016.11.066_bb0095","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1038\/gim.2013.204","article-title":"The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing","volume":"16","author":"Pugh","year":"2014","journal-title":"Genet. Med."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0100","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1161\/CIRCGENETICS.111.961805","article-title":"Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era","volume":"5","author":"Norton","year":"2012","journal-title":"Circ. Cardiovasc. Genet."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0105","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature11632","article-title":"An integrated map of genetic variation from 1,092 human genomes","volume":"491","author":"Abecasis","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ijcard.2016.11.066_bb0110","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1007\/s11886-013-0375-1","article-title":"Genetic evaluation of dilated cardiomyopathy","volume":"15","author":"Morales","year":"2013","journal-title":"Curr. Cardiol. Rep."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0115","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1186\/s13073-014-0087-1","article-title":"Computational approaches to interpreting genomic sequence variation","volume":"6","author":"Ritchie","year":"2014","journal-title":"Genome Med."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0120","doi-asserted-by":"crossref","first-page":"2327","DOI":"10.1093\/eurheartj\/ehv253","article-title":"Genetics and genotype\u2013phenotype correlations in Finnish patients with dilated cardiomyopathy","volume":"36","author":"Akinrinade","year":"2015","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0125","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1093\/bib\/bbu054","article-title":"Pathogenicity prediction of non-synonymous single nucleotide variants in dilated cardiomyopathy","volume":"16","author":"Mueller","year":"2015","journal-title":"Brief. Bioinform."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0130","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1126\/science.aaa5458","article-title":"Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy","volume":"349","author":"Hinson","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.ijcard.2016.11.066_bb0135","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1038\/ejhg.2009.53","article-title":"Genetic markers and population history: Finland revisited","volume":"17","author":"Palo","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ijcard.2016.11.066_bb0140","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."}],"container-title":["International Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167527316335124?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167527316335124?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,8,9]],"date-time":"2019-08-09T16:42:24Z","timestamp":1565368944000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0167527316335124"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2]]},"references-count":28,"alternative-id":["S0167527316335124"],"URL":"https:\/\/doi.org\/10.1016\/j.ijcard.2016.11.066","relation":{},"ISSN":["0167-5273"],"issn-type":[{"value":"0167-5273","type":"print"}],"subject":[],"published":{"date-parts":[[2017,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy","name":"articletitle","label":"Article Title"},{"value":"International Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ijcard.2016.11.066","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Ireland Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}