{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T22:15:14Z","timestamp":1790720114742,"version":"4.1.0"},"reference-count":46,"publisher":"Spandidos Publications","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.3892\/ijmm.2015.2361","type":"journal-article","created":{"date-parts":[[2015,10,7]],"date-time":"2015-10-07T06:25:21Z","timestamp":1444199121000},"page":"1479-1486","source":"Crossref","is-referenced-by-count":65,"title":["Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy"],"prefix":"10.3892","volume":"36","author":[{"given":"YUE","family":"ZHAO","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"YUE","family":"FENG","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"YUN-MEI","family":"ZHANG","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"XIAO-XUE","family":"DING","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"YU-ZHU","family":"SONG","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A-MEI","family":"ZHANG","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LI","family":"LIU","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HONG","family":"ZHANG","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JIA-HUAN","family":"DING","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"XUE-SHAN","family":"XIA","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2249","published-online":{"date-parts":[[2015,10,7]]},"reference":[{"key":"key20180107233115_b1-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/1750-1172-1-27","article-title":"Cardiomyopathy, familial dilated","volume":"1","author":"Taylor","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"key20180107233115_b2-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1016\/j.jacc.2011.01.015","article-title":"Update 2011: clinical and genetic issues in familial dilated cardiomyopathy","volume":"57","author":"Hershberger","year":"2011","journal-title":"J Am Coll Cardiol"},{"key":"key20180107233115_b3-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1056\/NEJM199201093260201","article-title":"The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy","volume":"326","author":"Michels","year":"1992","journal-title":"N Engl J Med"},{"key":"key20180107233115_b4-ijmm-36-06-1479","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":"key20180107233115_b5-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"654","DOI":"10.3892\/ijmm.2013.1600","article-title":"A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy","volume":"33","author":"Zhao","year":"2014","journal-title":"Int J Mol Med"},{"key":"key20180107233115_b6-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"282","DOI":"10.3892\/ijmm.2015.2206","article-title":"A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy","volume":"36","author":"Zhou","year":"2015","journal-title":"Int J Mol Med"},{"key":"key20180107233115_b7-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.3892\/ijmm.2014.1896","article-title":"GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy","volume":"34","author":"Xu","year":"2014","journal-title":"Int J Mol Med"},{"key":"key20180107233115_b8-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"763","DOI":"10.3892\/ijmm.2014.2050","article-title":"GATA5 loss-of-function mutation in familial dilated cardiomyopathy","volume":"35","author":"Zhang","year":"2015","journal-title":"Int J Mol Med"},{"key":"key20180107233115_b9-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"478","DOI":"10.3892\/ijmm.2014.2029","article-title":"A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias","volume":"35","author":"Yuan","year":"2015","journal-title":"Int J Mol Med"},{"key":"key20180107233115_b10-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1097\/GIM.0b013e3181f2481f","article-title":"Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals","volume":"12","author":"Hershberger","year":"2010","journal-title":"Genet Med"},{"key":"key20180107233115_b11-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/S0140-6736(04)15468-8","article-title":"Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy","volume":"363","author":"Murphy","year":"2004","journal-title":"Lancet"},{"key":"key20180107233115_b12-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/j.celrep.2014.07.027","article-title":"Perturbation of NCOA6 leads to dilated cardiomyopathy","volume":"8","author":"Roh","year":"2014","journal-title":"Cell Rep"},{"key":"key20180107233115_b13-ijmm-36-06-1479","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2012-007529","article-title":"NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy","volume":"2013","author":"Man","year":"2013","journal-title":"BMJ Case Rep"},{"key":"key20180107233115_b14-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"2715","DOI":"10.1093\/eurheartj\/ehq271","article-title":"European Society of Cardiology Working Group on Myocardial and Pericardial Diseases: Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases","volume":"31","author":"Charron","year":"2010","journal-title":"Eur Heart J"},{"key":"key20180107233115_b15-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/ejhg.2012.276","article-title":"Clinical utility gene card for: dilated cardiomyopathy (CMD)","volume":"21","author":"Posafalvi","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"key20180107233115_b16-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1146\/annurev.genom.9.081307.164359","article-title":"Next-generation DNA sequencing methods","volume":"9","author":"Mardis","year":"2008","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"key20180107233115_b17-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1038\/nmeth1156","article-title":"Next-generation sequencing transforms today's biology","volume":"5","author":"Schuster","year":"2008","journal-title":"Nat Methods"},{"key":"key20180107233115_b18-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.ppedcard.2011.02.006","article-title":"Genetic diagnosis in pediatric cardiomyopathy: clinical application and research perspectives","volume":"31","author":"Ware","year":"2011","journal-title":"Prog Pediatr Cardiol"},{"key":"key20180107233115_b19-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"4881","DOI":"10.1007\/s11033-014-3418-9","article-title":"Next generation sequencing in cardiomyopathy: towards personalized genomics and medicine","volume":"41","author":"Biswas","year":"2014","journal-title":"Mol Biol Rep"},{"key":"key20180107233115_b20-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1161\/CIRCGENETICS.113.000085","article-title":"Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar","volume":"6","author":"Punetha","year":"2013","journal-title":"Circ Cardiovasc Genet"},{"key":"key20180107233115_b21-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1053\/euhj.1998.1145","article-title":"Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy","volume":"20","author":"Mestroni","year":"1999","journal-title":"Eur Heart J"},{"key":"key20180107233115_b22-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with Burrows-Wheeler transform","volume":"26","author":"Li","year":"2010","journal-title":"Bioinformatics"},{"key":"key20180107233115_b23-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"1000 Genome Project Data Processing Subgroup: The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"key20180107233115_b24-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1101\/gr.129684.111","article-title":"VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing","volume":"22","author":"Koboldt","year":"2012","journal-title":"Genome Res"},{"key":"key20180107233115_b25-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"key20180107233115_b26-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1161\/CIRCULATIONAHA.109.914838","article-title":"Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies\/channelopathies in clinical practice","volume":"123","author":"Tester","year":"2011","journal-title":"Circulation"},{"key":"key20180107233115_b27-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.jacc.2011.10.869","article-title":"Prevention of sudden death for patients with cardiomyopathies another step forward","volume":"59","author":"Maron","year":"2012","journal-title":"J Am Coll Cardiol"},{"key":"key20180107233115_b28-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/j.yjmcc.2007.06.009","article-title":"Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy","volume":"43","author":"Chiu","year":"2007","journal-title":"J Mol Cell Cardiol"},{"key":"key20180107233115_b29-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1097\/GIM.0b013e31816b5cae","article-title":"ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007","volume":"10","author":"Richards","year":"2008","journal-title":"Genet Med"},{"key":"key20180107233115_b30-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat Protoc"},{"key":"key20180107233115_b31-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat Methods"},{"key":"key20180107233115_b32-ijmm-36-06-1479","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":"key20180107233115_b33-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1002\/clc.20151","article-title":"Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy","volume":"31","author":"Wang","year":"2008","journal-title":"Clin Cardiol"},{"key":"key20180107233115_b34-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"1266","DOI":"10.1161\/CIRCRESAHA.107.156380","article-title":"Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments","volume":"101","author":"Robinson","year":"2007","journal-title":"Circ Res"},{"key":"key20180107233115_b35-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"28498","DOI":"10.1074\/jbc.M412281200","article-title":"Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype","volume":"280","author":"Mirza","year":"2005","journal-title":"J Biol Chem"},{"key":"key20180107233115_b36-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1038\/ejhg.2009.34","article-title":"The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy","volume":"17","author":"Mller","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"key20180107233115_b37-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1161\/CIRCGENETICS.109.912345","article-title":"Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy","volume":"3","author":"Hershberger","year":"2010","journal-title":"Circ Cardiovasc Genet"},{"key":"key20180107233115_b38-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1111\/j.1752-8062.2008.00017.x","article-title":"Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy","volume":"1","author":"Hershberger","year":"2008","journal-title":"Clin Transl Sci"},{"key":"key20180107233115_b39-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/j.cardfail.2012.01.013","article-title":"Genetic testing for dilated cardiomyopathy in clinical practice","volume":"18","author":"Lakdawala","year":"2012","journal-title":"J Card Fail"},{"key":"key20180107233115_b40-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.amjcard.2013.04.021","article-title":"Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy","volume":"112","author":"Liu","year":"2013","journal-title":"Am J Cardiol"},{"key":"key20180107233115_b41-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1007\/s10038-007-0149-y","article-title":"Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy","volume":"52","author":"Matsushita","year":"2007","journal-title":"J Hum Genet"},{"key":"key20180107233115_b42-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"3969","DOI":"10.1007\/s11033-012-2474-2","article-title":"Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy","volume":"40","author":"Zou","year":"2013","journal-title":"Mol Biol Rep"},{"key":"key20180107233115_b43-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"E16","DOI":"10.1002\/clc.20520","article-title":"A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy","volume":"32","author":"Wang","year":"2009","journal-title":"Clin Cardiol"},{"key":"key20180107233115_b44-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1161\/CIRCULATIONAHA.104.507699","article-title":"Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy","volume":"112","author":"Carniel","year":"2005","journal-title":"Circulation"},{"key":"key20180107233115_b45-ijmm-36-06-1479","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1038\/nmeth.1343","article-title":"Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection","volume":"6","author":"Herman","year":"2009","journal-title":"Nat Methods"},{"key":"key20180107233115_b46-ijmm-36-06-1479","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"}],"container-title":["International Journal of Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/spandidos-publications.com\/10.3892\/ijmm.2015.2361\/download","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,1,7]],"date-time":"2018-01-07T19:01:33Z","timestamp":1515351693000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.spandidos-publications.com\/10.3892\/ijmm.2015.2361"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,7]]},"references-count":46,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2015,10,7]]},"published-print":{"date-parts":[[2015,12]]}},"alternative-id":["10.3892\/ijmm.2015.2361"],"URL":"https:\/\/doi.org\/10.3892\/ijmm.2015.2361","relation":{},"ISSN":["1107-3756","1791-244X"],"issn-type":[{"value":"1107-3756","type":"print"},{"value":"1791-244X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,7]]}}}