{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T10:48:14Z","timestamp":1789382894652,"version":"build-2803163510"},"reference-count":67,"publisher":"Public Library of Science (PLoS)","issue":"8","license":[{"start":{"date-parts":[[2017,8,3]],"date-time":"2017-08-03T00:00:00Z","timestamp":1501718400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0181465","type":"journal-article","created":{"date-parts":[[2017,8,3]],"date-time":"2017-08-03T14:04:31Z","timestamp":1501769071000},"page":"e0181465","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":46,"title":["Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy"],"prefix":"10.1371","volume":"12","author":[{"given":"Irene","family":"Mademont-Soler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3822-745X","authenticated-orcid":true,"given":"Jesus","family":"Mates","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Yotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Angeles","family":"Espinosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"P\u00e9rez-Serra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Isabel","family":"Fernandez-Avila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Coll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"M\u00e9ndez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Iglesias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernat","family":"del Olmo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Riur\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sof\u00eda","family":"Cuenca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catarina","family":"Allegue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar","family":"Campuzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferran","family":"Pic\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carles","family":"Ferrer-Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"\u00c1lvarez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Castillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Garcia-Pavia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Gonzalez-Lopez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Padron-Barthe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aranzazu","family":"D\u00edaz de Bustamante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Teresa","family":"Darnaude","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Ignacio","family":"Gonz\u00e1lez-Hevia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josep","family":"Brugada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Fernandez-Aviles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramon","family":"Brugada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2017,8,3]]},"reference":[{"issue":"4","key":"ref1","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1161\/01.CIR.92.4.785","article-title":"Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults","volume":"92","author":"BJ Maron","year":"1995","journal-title":"Circulation"},{"issue":"9","key":"ref2","first-page":"746","article-title":"Usefulness of genetic testing for hypertrophic cardiomyopathy in real-world practice","volume":"66","author":"M Cobo-Marcos","year":"2013","journal-title":"Rev Esp Cardiol (Engl Ed)"},{"issue":"4","key":"ref3","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/gim.2013.138","article-title":"Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment","volume":"16","author":"KJ Das","year":"2014","journal-title":"Genet Med"},{"issue":"11","key":"ref4","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/gim.2014.205","article-title":"Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity","volume":"17","author":"AA Alfares","year":"2015","journal-title":"Genet Med"},{"issue":"39","key":"ref5","doi-asserted-by":"crossref","first-page":"2733","DOI":"10.1093\/eurheartj\/ehu284","article-title":"2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC)","volume":"35","author":"PM Elliott","year":"2014","journal-title":"Eur Heart J"},{"issue":"4","key":"ref6","doi-asserted-by":"crossref","first-page":"463","DOI":"10.4065\/80.4.463","article-title":"Sarcomeric genotyping in hypertrophic cardiomyopathy","volume":"80","author":"SL Van Driest","year":"2005","journal-title":"Mayo Clin Proc"},{"issue":"6","key":"ref7","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1016\/S0025-6196(11)60890-2","article-title":"Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy","volume":"83","author":"I Olivotto","year":"2008","journal-title":"Mayo Clin Proc"},{"issue":"5","key":"ref8","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.ejmg.2010.07.007","article-title":"Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy","volume":"53","author":"G Millat","year":"2010","journal-title":"Eur J Med Genet"},{"issue":"11","key":"ref9","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1093\/eurjhf\/hfr074","article-title":"Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure","volume":"13","author":"S Waldmuller","year":"2011","journal-title":"Eur J Heart Fail"},{"issue":"11","key":"ref10","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1093\/eurjhf\/hfr110","article-title":"Genetic basis of end-stage hypertrophic cardiomyopathy","volume":"13","author":"P Garcia-Pavia","year":"2011","journal-title":"Eur J Heart Fail"},{"issue":"1","key":"ref11","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1161\/CIRCGENETICS.112.963363","article-title":"Toronto hypertrophic cardiomyopathy genotype score for prediction of a positive genotype in hypertrophic cardiomyopathy","volume":"6","author":"C Gruner","year":"2013","journal-title":"Circ Cardiovasc Genet"},{"issue":"4","key":"ref12","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1136\/jmedgenet-2012-101270","article-title":"Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing","volume":"50","author":"LR Lopes","year":"2013","journal-title":"J Med Genet"},{"issue":"4","key":"ref13","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1016\/j.ahj.2013.07.029","article-title":"Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy","volume":"166","author":"JD Marsiglia","year":"2013","journal-title":"Am Heart J"},{"issue":"1","key":"ref14","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/s12265-012-9425-0","article-title":"Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program","volume":"6","author":"H Kassem","year":"2013","journal-title":"J Cardiovasc Transl Res"},{"issue":"4","key":"ref15","doi-asserted-by":"crossref","first-page":"4555","DOI":"10.1016\/j.ijcard.2013.06.085","article-title":"The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain)","volume":"168","author":"JR Reguero","year":"2013","journal-title":"Int J Cardiol"},{"issue":"3","key":"ref16","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1007\/s12265-014-9542-z","article-title":"Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise","volume":"7","author":"JD Kapplinger","year":"2014","journal-title":"J Cardiovasc Transl Res"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1186\/1479-5876-12-173","article-title":"Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing","volume":"12","author":"Z Li","year":"2014","journal-title":"J Transl Med"},{"issue":"4","key":"ref18","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1111\/cge.12286","article-title":"Genetics of hypertrophic cardiomyopathy in Norway","volume":"86","author":"KE Berge","year":"2014","journal-title":"Clin Genet"},{"issue":"4","key":"ref19","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1136\/heartjnl-2014-306387","article-title":"Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy","volume":"101","author":"LR Lopes","year":"2015","journal-title":"Heart"},{"issue":"17","key":"ref20","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.1161\/01.CIR.0000066323.15244.54","article-title":"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy","volume":"107","author":"P Richard","year":"2003","journal-title":"Circulation"},{"key":"ref21","article-title":"Hypertrophic obstructive cardiomyopathy","author":"J Veselka","year":"2016","journal-title":"Lancet"},{"key":"ref22","article-title":"Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes","author":"R Walsh","year":"2017","journal-title":"Eur Heart J"},{"issue":"11","key":"ref23","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/j.ejmg.2015.10.001","article-title":"Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy","volume":"58","author":"LR Lopes","year":"2015","journal-title":"Eur J Med Genet"},{"issue":"2","key":"ref24","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1002\/mgg3.187","article-title":"Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies","volume":"4","author":"O Ceyhan-Birsoy","year":"2016","journal-title":"Mol Genet Genomic Med"},{"issue":"12","key":"ref25","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1038\/nmeth.2221","article-title":"The GEM mapper: fast, accurate and versatile alignment by filtration","volume":"9","author":"S Marco-Sola","year":"2012","journal-title":"Nat Methods"},{"issue":"16","key":"ref26","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"H Li","year":"2009","journal-title":"Bioinformatics"},{"issue":"1","key":"ref27","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1093\/nar\/29.1.308","article-title":"dbSNP: the NCBI database of genetic variation","volume":"29","author":"ST Sherry","year":"2001","journal-title":"Nucleic Acids Res"},{"key":"ref28","unstructured":"Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP) [database on the Internet]. 2016. Available from: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/evs.gs.washington.edu\/EVS\/\" xlink:type=\"simple\">http:\/\/evs.gs.washington.edu\/EVS\/<\/ext-link>."},{"issue":"7571","key":"ref29","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"A Auton","year":"2015","journal-title":"Nature"},{"issue":"7616","key":"ref30","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"M Lek","year":"2016","journal-title":"Nature"},{"key":"ref31","unstructured":"The Human Gene Mutation Database [database on the Internet]. Institute of Medical Genetics in Cardiff. 2016. Available from: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/www.hgmd.cf.ac.uk\/ac\/index.php\" xlink:type=\"simple\">http:\/\/www.hgmd.cf.ac.uk\/ac\/index.php<\/ext-link>."},{"key":"ref32","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","article-title":"ClinVar: public archive of relationships among sequence variation and human phenotype","volume":"42","author":"MJ Landrum","year":"2014","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"ref33","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1111\/cge.12257","article-title":"A systematic approach to assessing the clinical significance of genetic variants","volume":"84","author":"H Duzkale","year":"2013","journal-title":"Clin Genet"},{"issue":"5","key":"ref34","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"S Richards","year":"2015","journal-title":"Genet Med"},{"issue":"4","key":"ref35","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":"IA Adzhubei","year":"2010","journal-title":"Nat Methods"},{"issue":"10","key":"ref36","doi-asserted-by":"crossref","first-page":"e46688","DOI":"10.1371\/journal.pone.0046688","article-title":"Predicting the functional effect of amino acid substitutions and indels","volume":"7","author":"Y Choi","year":"2012","journal-title":"PLoS One"},{"issue":"4","key":"ref37","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"JM Schwarz","year":"2014","journal-title":"Nat Methods"},{"issue":"270","key":"ref38","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":"AM Roberts","year":"2015","journal-title":"Sci Transl Med"},{"issue":"4","key":"ref39","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","article-title":"DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources","volume":"84","author":"HV Firth","year":"2009","journal-title":"Am J Hum Genet"},{"key":"ref40","unstructured":"Database of Genomic Variants [database on the Internet]. 2016. Available from: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/dgv.tcag.ca\/dgv\/app\/home\" xlink:type=\"simple\">http:\/\/dgv.tcag.ca\/dgv\/app\/home<\/ext-link>."},{"key":"ref41","unstructured":"ClinGen: Clinical Genome Resource [database on the Internet]. 2016. Available from: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/clinicalgenome.org\/\" xlink:type=\"simple\">http:\/\/clinicalgenome.org\/<\/ext-link>."},{"issue":"2","key":"ref42","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1007\/s00380-014-0503-x","article-title":"A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction","volume":"30","author":"T Tian","year":"2015","journal-title":"Heart Vessels"},{"issue":"8","key":"ref43","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1093\/eurheartj\/ehi193","article-title":"Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene","volume":"26","author":"E Villard","year":"2005","journal-title":"Eur Heart J"},{"issue":"12","key":"ref44","doi-asserted-by":"crossref","first-page":"2963","DOI":"10.1253\/circj.CJ-14-0628","article-title":"Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing","volume":"78","author":"J Gomez","year":"2014","journal-title":"Circ J"},{"issue":"2","key":"ref45","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1161\/CIRCGENETICS.110.958322","article-title":"Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies","volume":"4","author":"B Meder","year":"2011","journal-title":"Circ Cardiovasc Genet"},{"issue":"9","key":"ref46","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1136\/jmedgenet-2012-101231","article-title":"Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics","volume":"50","author":"OR Mook","year":"2013","journal-title":"J Med Genet"},{"issue":"1","key":"ref47","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.jmoldx.2013.07.008","article-title":"DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies","volume":"16","author":"V D'Argenio","year":"2014","journal-title":"J Mol Diagn"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.cca.2015.04.014","article-title":"Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group","volume":"446","author":"AS Glotov","year":"2015","journal-title":"Clin Chim Acta"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"11411","DOI":"10.1038\/srep11411","article-title":"Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing","volume":"5","author":"X Liu","year":"2015","journal-title":"Sci Rep"},{"issue":"2","key":"ref50","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.gene.2015.11.048","article-title":"Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy","volume":"577","author":"I Bottillo","year":"2016","journal-title":"Gene"},{"issue":"4","key":"ref51","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.3892\/ijmm.2016.2732","article-title":"Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy","volume":"38","author":"M Cecconi","year":"2016","journal-title":"Int J Mol Med"},{"issue":"8","key":"ref52","doi-asserted-by":"crossref","DOI":"10.3390\/ijms17081239","article-title":"A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort","volume":"17","author":"S Rubattu","year":"2016","journal-title":"Int J Mol Sci"},{"issue":"1","key":"ref53","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.hrthm.2011.08.009","article-title":"Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors","volume":"9","author":"BJ Maron","year":"2012","journal-title":"Heart rhythm: the official journal of the Heart Rhythm Society"},{"issue":"7","key":"ref54","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1056\/NEJMoa1110186","article-title":"Truncations of titin causing dilated cardiomyopathy","volume":"366","author":"DS Herman","year":"2012","journal-title":"N Engl J Med"},{"key":"ref55","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":"M Gigli","year":"2016","journal-title":"Front Cardiovasc Med"},{"issue":"6","key":"ref56","doi-asserted-by":"crossref","first-page":"2156","DOI":"10.1172\/JCI116101","article-title":"Detection of a new mutation in the beta-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy","volume":"90","author":"AJ Marian","year":"1992","journal-title":"J Clin Invest"},{"issue":"7","key":"ref57","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":"DS Herman","year":"2009","journal-title":"Nat Methods"},{"issue":"5","key":"ref58","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/j.jmoldx.2012.04.001","article-title":"Resequencing the whole MYH7 gene (including the intronic, promoter, and 3&apos; UTR sequences) in hypertrophic cardiomyopathy","volume":"14","author":"E Coto","year":"2012","journal-title":"J Mol Diagn"},{"issue":"1","key":"ref59","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.ijcard.2009.07.009","article-title":"The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy","volume":"145","author":"RD Bagnall","year":"2010","journal-title":"Int J Cardiol"},{"issue":"3","key":"ref60","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ejmg.2012.01.002","article-title":"Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy","volume":"55","author":"V Chanavat","year":"2012","journal-title":"Eur J Med Genet"},{"issue":"2","key":"ref61","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.gene.2012.06.097","article-title":"A new mutational mechanism for hypertrophic cardiomyopathy","volume":"507","author":"L Pezzoli","year":"2012","journal-title":"Gene"},{"issue":"2","key":"ref62","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1136\/heart.88.2.153","article-title":"Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy","volume":"88","author":"X Jouven","year":"2002","journal-title":"Heart"},{"issue":"23","key":"ref63","doi-asserted-by":"crossref","first-page":"2406","DOI":"10.1016\/j.jacc.2011.07.044","article-title":"Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history","volume":"58","author":"EA Nannenberg","year":"2011","journal-title":"J Am Coll Cardiol"},{"issue":"5","key":"ref64","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1073\/pnas.0510519103","article-title":"A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy","volume":"103","author":"K Haghighi","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"ref65","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.ejheart.2006.04.007","article-title":"Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 C&gt;G mutation","volume":"9","author":"M Medin","year":"2007","journal-title":"Eur J Heart Fail"},{"key":"ref66","doi-asserted-by":"crossref","first-page":"5326","DOI":"10.1038\/ncomms6326","article-title":"Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy","volume":"5","author":"R Valdes-Mas","year":"2014","journal-title":"Nat Commun"},{"issue":"14","key":"ref67","doi-asserted-by":"crossref","first-page":"3237","DOI":"10.1093\/hmg\/dds157","article-title":"Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy","volume":"21","author":"FW Friedrich","year":"2012","journal-title":"Human molecular genetics"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0181465","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T20:38:57Z","timestamp":1569962337000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0181465"}},"subtitle":[],"editor":[{"given":"Chunhua","family":"Song","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2017,8,3]]},"references-count":67,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2017,8,3]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0181465","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,3]]}}}