{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T07:28:36Z","timestamp":1748417316927,"version":"3.37.3"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T00:00:00Z","timestamp":1555372800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T00:00:00Z","timestamp":1555372800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81670284"],"award-info":[{"award-number":["81670284"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Nanjing science and technology project","award":["201715057"],"award-info":[{"award-number":["201715057"]}]},{"name":"Nanjing Medical Science and technique Development Foundation, Nanjing Department of Health","award":["QRX17024","ZKX13037"],"award-info":[{"award-number":["QRX17024","ZKX13037"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Cardiol"],"published-print":{"date-parts":[[2019,6]]},"DOI":"10.1007\/s00246-019-02096-1","type":"journal-article","created":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T08:03:27Z","timestamp":1555401807000},"page":"950-957","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients"],"prefix":"10.1007","volume":"40","author":[{"given":"Genyin","family":"Dai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhening","family":"Pu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueying","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Yin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zewei","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinlong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuming","family":"Qin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7807-0963","authenticated-orcid":false,"given":"Shiwei","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,4,16]]},"reference":[{"key":"2096_CR1","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1186\/1750-1172-1-27","volume":"1","author":"MR Taylor","year":"2006","unstructured":"Taylor MR, Carniel E, Mestroni L (2006) Cardiomyopathy, familial dilated. Orphanet J Rare Dis 1:27. \n                    https:\/\/doi.org\/10.1186\/1750-1172-1-27","journal-title":"Orphanet J Rare Dis"},{"issue":"16","key":"2096_CR2","doi-asserted-by":"publisher","first-page":"1641","DOI":"10.1016\/j.jacc.2011.01.015","volume":"57","author":"RE Hershberger","year":"2011","unstructured":"Hershberger RE, Siegfried JD (2011) Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 57(16):1641\u20131649. \n                    https:\/\/doi.org\/10.1016\/j.jacc.2011.01.015","journal-title":"J Am Coll Cardiol"},{"issue":"2","key":"2096_CR3","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1056\/NEJM199201093260201","volume":"326","author":"VV Michels","year":"1992","unstructured":"Michels VV, Moll PP, Miller FA, Tajik AJ, Chu JS, Driscoll DJ, Burnett JC, Rodeheffer RJ, Chesebro JH, Tazelaar HD (1992) The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med 326(2):77\u201382. \n                    https:\/\/doi.org\/10.1056\/NEJM199201093260201","journal-title":"N Engl J Med"},{"issue":"34","key":"2096_CR4","doi-asserted-by":"publisher","first-page":"2327","DOI":"10.1093\/eurheartj\/ehv253","volume":"36","author":"O Akinrinade","year":"2015","unstructured":"Akinrinade O, Ollila L, Vattulainen S, Tallila J, Gentile M, Salmenpera P, Koillinen H, Kaartinen M, Nieminen MS, Myllykangas S, Alastalo TP, Koskenvuo JW, Helio T (2015) Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. Eur Heart J 36(34):2327\u20132337. \n                    https:\/\/doi.org\/10.1093\/eurheartj\/ehv253","journal-title":"Eur Heart J"},{"issue":"3","key":"2096_CR5","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1002\/ejhf.16","volume":"16","author":"M Merlo","year":"2014","unstructured":"Merlo M, Pivetta A, Pinamonti B, Stolfo D, Zecchin M, Barbati G, Di Lenarda A, Sinagra G (2014) Long-term prognostic impact of therapeutic strategies in patients with idiopathic dilated cardiomyopathy: changing mortality over the last 30 years. Eur J Heart Fail 16(3):317\u2013324. \n                    https:\/\/doi.org\/10.1002\/ejhf.16","journal-title":"Eur J Heart Fail"},{"issue":"9716","key":"2096_CR6","doi-asserted-by":"publisher","first-page":"752","DOI":"10.1016\/S0140-6736(09)62023-7","volume":"375","author":"JL Jefferies","year":"2010","unstructured":"Jefferies JL, Towbin JA (2010) Dilated cardiomyopathy. Lancet 375(9716):752\u2013762. \n                    https:\/\/doi.org\/10.1016\/S0140-6736(09)62023-7","journal-title":"Lancet"},{"key":"2096_CR7","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.116.003450","author":"I Puggia","year":"2016","unstructured":"Puggia I, Merlo M, Barbati G, Rowland TJ, Stolfo D, Gigli M, Ramani F, Di Lenarda A, Mestroni L, Sinagra G (2016) Natural history of dilated cardiomyopathy in children. J Am Heart Assoc. \n                    https:\/\/doi.org\/10.1161\/JAHA.116.003450","journal-title":"J Am Heart Assoc"},{"issue":"21","key":"2096_CR8","doi-asserted-by":"publisher","first-page":"2674","DOI":"10.1016\/j.jacc.2017.09.1100","volume":"70","author":"RG Weintraub","year":"2017","unstructured":"Weintraub RG, Alexander PMA (2017) Outcomes in pediatric dilated cardiomyopathy: Quo Vadis? J Am Coll Cardiol 70(21):2674\u20132676. \n                    https:\/\/doi.org\/10.1016\/j.jacc.2017.09.1100","journal-title":"J Am Coll Cardiol"},{"key":"2096_CR9","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.115.002443","author":"PA Long","year":"2015","unstructured":"Long PA, Larsen BT, Evans JM, Olson TM (2015) Exome sequencing identifies pathogenic and modifier mutations in a child with sporadic dilated cardiomyopathy. J Am Heart Assoc. \n                    https:\/\/doi.org\/10.1161\/JAHA.115.002443","journal-title":"J Am Heart Assoc"},{"issue":"8","key":"2096_CR10","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1007\/s00439-016-1685-3","volume":"135","author":"PA Long","year":"2016","unstructured":"Long PA, Zimmermann MT, Kim M, Evans JM, Xu X, Olson TM (2016) De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy. Hum Genet 135(8):909\u2013917. \n                    https:\/\/doi.org\/10.1007\/s00439-016-1685-3","journal-title":"Hum Genet"},{"key":"2096_CR11","doi-asserted-by":"publisher","first-page":"204823","DOI":"10.1155\/2015\/204823","volume":"2015","author":"S Simpson","year":"2015","unstructured":"Simpson S, Edwards J, Ferguson-Mignan TF, Cobb M, Mongan NP, Rutland CS (2015) genetics of human and canine dilated cardiomyopathy. Int J Genomics 2015:204823. \n                    https:\/\/doi.org\/10.1155\/2015\/204823","journal-title":"Int J Genomics"},{"issue":"5","key":"2096_CR12","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1016\/j.jacc.2015.10.093","volume":"67","author":"R Almomani","year":"2016","unstructured":"Almomani R, Verhagen JM, Herkert JC, Brosens E, van Spaendonck-Zwarts KY, Asimaki A, van der Zwaag PA, Frohn-Mulder IM, Bertoli-Avella AM, Boven LG, van Slegtenhorst MA, van der Smagt JJ, van IJcken WF, Timmer B, van Stuijvenberg M, Verdijk RM, Saffitz JE, du Plessis FA, Michels M, Hofstra RM, Sinke RJ, van Tintelen JP, Wessels MW, Jongbloed JD, van de Laar IM (2016) Biallelic truncating mutations in ALPK3 cause severe pediatric cardiomyopathy. J Am Coll Cardiol 67(5):515\u2013525. \n                    https:\/\/doi.org\/10.1016\/j.jacc.2015.10.093","journal-title":"J Am Coll Cardiol"},{"issue":"2","key":"2096_CR13","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1093\/eurheartj\/ehm342","volume":"29","author":"P Elliott","year":"2008","unstructured":"Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kuhl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A (2008) Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 29(2):270\u2013276. \n                    https:\/\/doi.org\/10.1093\/eurheartj\/ehm342","journal-title":"Eur Heart J"},{"issue":"1\u20132","key":"2096_CR14","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/j.ppedcard.2014.10.003","volume":"37","author":"L Mestroni","year":"2014","unstructured":"Mestroni L, Brun F, Spezzacatene A, Sinagra G, Taylor MR (2014) Genetic causes of dilated cardiomyopathy. Prog Pediatr Cardiol 37(1\u20132):13\u201318. \n                    https:\/\/doi.org\/10.1016\/j.ppedcard.2014.10.003","journal-title":"Prog Pediatr Cardiol"},{"issue":"9","key":"2096_CR15","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA (2010) The genome analysis toolkit: a mapreduce framework for analyzing next-generation DNA sequencing data. Genome Res 20(9):1297\u20131303. \n                    https:\/\/doi.org\/10.1101\/gr.107524.110","journal-title":"Genome Res"},{"issue":"5","key":"2096_CR16","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1038\/ng.806","volume":"43","author":"MA DePristo","year":"2011","unstructured":"DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43(5):491\u2013498. \n                    https:\/\/doi.org\/10.1038\/ng.806","journal-title":"Nat Genet"},{"issue":"22","key":"2096_CR17","doi-asserted-by":"publisher","first-page":"2440","DOI":"10.1016\/j.jacc.2016.09.927","volume":"68","author":"MF Ortiz-Genga","year":"2016","unstructured":"Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padron-Barthe L, Duro-Aguado I, Jimenez-Jaimez J, Hidalgo-Olivares VM, Garcia-Campo E, Lanzillo C, Suarez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santome JL, Garcia-Giustiniani D, Rodriguez-Garrido JL, Dominguez F, Merlo M, Palomino J, Pena ML, Trujillo JP, Martin-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calo L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, Garcia-Pavia P, Monserrat L (2016) Truncating FLNC mutations are associated with high-risk dilated and arrhythmogenic cardiomyopathies. J Am Coll Cardiol 68(22):2440\u20132451. \n                    https:\/\/doi.org\/10.1016\/j.jacc.2016.09.927","journal-title":"J Am Coll Cardiol"},{"issue":"5","key":"2096_CR18","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1016\/j.jacbts.2016.05.004","volume":"1","author":"RL Begay","year":"2016","unstructured":"Begay RL, Tharp CA, Martin A, Graw SL, Sinagra G, Miani D, Sweet ME, Slavov DB, Stafford N, Zeller MJ, Alnefaie R, Rowland TJ, Brun F, Jones KL, Gowan K, Mestroni L, Garrity DM, Taylor MR (2016) FLNC gene splice mutations cause dilated cardiomyopathy. JACC Basic Trans Sci 1(5):344\u2013359. \n                    https:\/\/doi.org\/10.1016\/j.jacbts.2016.05.004","journal-title":"JACC Basic Trans Sci"},{"key":"2096_CR19","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1186\/s12881-016-0267-5","volume":"17","author":"ZN Al-Hassnan","year":"2016","unstructured":"Al-Hassnan ZN, Shinwari ZM, Wakil SM, Tulbah S, Mohammed S, Rahbeeni Z, Alghamdi M, Rababh M, Colak D, Kaya N, Al-Fayyadh M, Alburaiki J (2016) A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy. BMC Med Genet 17:3. \n                    https:\/\/doi.org\/10.1186\/s12881-016-0267-5","journal-title":"BMC Med Genet"},{"issue":"17","key":"2096_CR20","doi-asserted-by":"publisher","first-page":"27812","DOI":"10.18632\/oncotarget.15434","volume":"8","author":"J Li","year":"2017","unstructured":"Li J, Yang S, Pu Z, Dai J, Jiang T, Du F, Jiang Z, Cheng Y, Dai G, Wang J, Qi J, Cao L, Cheng X, Ren C, Li X, Qin Y (2017) Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population. Oncotarget 8(17):27812\u201327819. \n                    https:\/\/doi.org\/10.18632\/oncotarget.15434","journal-title":"Oncotarget"},{"issue":"2","key":"2096_CR21","doi-asserted-by":"publisher","first-page":"e5","DOI":"10.1136\/jmg.2005.032904","volume":"43","author":"A Uzumcu","year":"2006","unstructured":"Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP, Wollnik B (2006) Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet 43(2):e5. \n                    https:\/\/doi.org\/10.1136\/jmg.2005.032904","journal-title":"J Med Genet"},{"issue":"6","key":"2096_CR22","doi-asserted-by":"publisher","first-page":"1034","DOI":"10.1016\/j.ajhg.2017.11.003","volume":"101","author":"S Sanna-Cherchi","year":"2017","unstructured":"Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG (2017) Exome-wide association study identifies GREB1L mutations in congenital kidney malformations. Am J Hum Genet 101(6):1034. \n                    https:\/\/doi.org\/10.1016\/j.ajhg.2017.11.003","journal-title":"Am J Hum Genet"},{"issue":"8","key":"2096_CR23","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1038\/gim.2013.204","volume":"16","author":"TJ Pugh","year":"2014","unstructured":"Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH (2014) The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 16(8):601\u2013608. \n                    https:\/\/doi.org\/10.1038\/gim.2013.204","journal-title":"Genet Med"},{"issue":"5","key":"2096_CR24","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1034\/j.1600-0625.2002.110506.x","volume":"11","author":"S Kazerounian","year":"2002","unstructured":"Kazerounian S, Uitto J, Aho S (2002) Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin. Exp Dermatol 11(5):428\u2013438","journal-title":"Exp Dermatol"},{"issue":"2","key":"2096_CR25","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1046\/j.0022-202x.2001.01664.x","volume":"118","author":"NV Whittock","year":"2002","unstructured":"Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA (2002) Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility\/woolly hair syndrome. J Invest Dermatol 118(2):232\u2013238. \n                    https:\/\/doi.org\/10.1046\/j.0022-202x.2001.01664.x","journal-title":"J Invest Dermatol"},{"issue":"2","key":"2096_CR26","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1016\/j.yexmp.2015.01.015","volume":"98","author":"C Herbert Pratt","year":"2015","unstructured":"Herbert Pratt C, Potter CS, Fairfield H, Reinholdt LG, Bergstrom DE, Harris BS, Greenstein I, Dadras SS, Liang BT, Schofield PN, Sundberg JP (2015) Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome. Exp Mol Pathol 98(2):164\u2013172. \n                    https:\/\/doi.org\/10.1016\/j.yexmp.2015.01.015","journal-title":"Exp Mol Pathol"},{"key":"2096_CR27","doi-asserted-by":"publisher","first-page":"a1","DOI":"10.2741\/A100","volume":"1","author":"DZ Wang","year":"1996","unstructured":"Wang DZ, Hu X, Lin JL, Kitten GT, Solursh M, Lin JJ (1996) Differential displaying of mRNAs from the atrioventricular region of developing chicken hearts at stages 15 and 21. Front Biosci 1:a1\u201315","journal-title":"Front Biosci"},{"issue":"5","key":"2096_CR28","doi-asserted-by":"publisher","first-page":"952","DOI":"10.1161\/CIRCRESAHA.109.209007","volume":"106","author":"SA McCalmon","year":"2010","unstructured":"McCalmon SA, Desjardins DM, Ahmad S, Davidoff KS, Snyder CM, Sato K, Ohashi K, Kielbasa OM, Mathew M, Ewen EP, Walsh K, Gavras H, Naya FJ (2010) Modulation of angiotensin II-mediated cardiac remodeling by the MEF2A target gene Xirp2. Circ Res 106(5):952\u2013960. \n                    https:\/\/doi.org\/10.1161\/CIRCRESAHA.109.209007","journal-title":"Circ Res"},{"issue":"9","key":"2096_CR29","doi-asserted-by":"publisher","first-page":"1468","DOI":"10.1161\/CIRCRESAHA.109.212787","volume":"106","author":"Q Wang","year":"2010","unstructured":"Wang Q, Lin JL, Reinking BE, Feng HZ, Chan FC, Lin CI, Jin JP, Gustafson-Wagner EA, Scholz TD, Yang B, Lin JJ (2010) Essential roles of an intercalated disc protein, mXinbeta, in postnatal heart growth and survival. Circ Res 106(9):1468\u20131478. \n                    https:\/\/doi.org\/10.1161\/CIRCRESAHA.109.212787","journal-title":"Circ Res"},{"issue":"1","key":"2096_CR30","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1111\/cge.12741","volume":"90","author":"O Akinrinade","year":"2016","unstructured":"Akinrinade O, Alastalo TP, Koskenvuo JW (2016) Relevance of truncating titin mutations in dilated cardiomyopathy. Clin Genet 90(1):49\u201354. \n                    https:\/\/doi.org\/10.1111\/cge.12741","journal-title":"Clin Genet"},{"issue":"7","key":"2096_CR31","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1056\/NEJMoa1110186","volume":"366","author":"DS Herman","year":"2012","unstructured":"Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, Banner NR, Pennell DJ, Graw S, Merlo M, Di Lenarda A, Sinagra G, Bos JM, Ackerman MJ, Mitchell RN, Murry CE, Lakdawala NK, Ho CY, Barton PJ, Cook SA, Mestroni L, Seidman JG, Seidman CE (2012) Truncations of titin causing dilated cardiomyopathy. N Engl J Med 366(7):619\u2013628. \n                    https:\/\/doi.org\/10.1056\/NEJMoa1110186","journal-title":"N Engl J Med"},{"issue":"270","key":"2096_CR32","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1126\/scitranslmed.3010134","volume":"7","author":"AM Roberts","year":"2015","unstructured":"Roberts AM, Ware JS, Herman DS, Schafer S, Baksi J, Bick AG, Buchan RJ, Walsh R, John S, Wilkinson S, Mazzarotto F, Felkin LE, Gong S, MacArthur JA, Cunningham F, Flannick J, Gabriel SB, Altshuler DM, Macdonald PS, Heinig M, Keogh AM, Hayward CS, Banner NR, Pennell DJ, O\u2019Regan DP, San TR, de Marvao A, Dawes TJ, Gulati A, Birks EJ, Yacoub MH, Radke M, Gotthardt M, Wilson JG, O\u2019Donnell CJ, Prasad SK, Barton PJ, Fatkin D, Hubner N, Seidman JG, Seidman CE, Cook SA (2015) Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci Trans Med 7(270):27. \n                    https:\/\/doi.org\/10.1126\/scitranslmed.3010134","journal-title":"Sci Trans Med"},{"key":"2096_CR33","doi-asserted-by":"publisher","first-page":"21","DOI":"10.3389\/fcvm.2016.00021","volume":"3","author":"M Gigli","year":"2016","unstructured":"Gigli M, Begay RL, Morea G, Graw SL, Sinagra G, Taylor MR, Granzier H, Mestroni L (2016) A review of the giant protein titin in clinical molecular diagnostics of cardiomyopathies. Front Cardiovasc Med 3:21. \n                    https:\/\/doi.org\/10.3389\/fcvm.2016.00021","journal-title":"Front Cardiovasc Med"},{"issue":"2","key":"2096_CR34","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1038\/ng816","volume":"30","author":"X Xu","year":"2002","unstructured":"Xu X, Meiler SE, Zhong TP, Mohideen M, Crossley DA, Burggren WW, Fishman MC (2002) Cardiomyopathy in zebrafish due to mutation in an alternatively spliced exon of titin. Nat Genet 30(2):205\u2013209. \n                    https:\/\/doi.org\/10.1038\/ng816","journal-title":"Nat Genet"},{"issue":"10","key":"2096_CR35","doi-asserted-by":"publisher","first-page":"1160","DOI":"10.1038\/ejhg.2010.83","volume":"18","author":"A Levitas","year":"2010","unstructured":"Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, Beck JC, Sheffield V, Parvari R (2010) Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. Eur J Human Genet 18(10):1160\u20131165. \n                    https:\/\/doi.org\/10.1038\/ejhg.2010.83","journal-title":"Eur J Human Genet"}],"container-title":["Pediatric Cardiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00246-019-02096-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00246-019-02096-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00246-019-02096-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,19]],"date-time":"2020-05-19T09:50:54Z","timestamp":1589881854000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00246-019-02096-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,16]]},"references-count":35,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,6]]}},"alternative-id":["2096"],"URL":"https:\/\/doi.org\/10.1007\/s00246-019-02096-1","relation":{},"ISSN":["0172-0643","1432-1971"],"issn-type":[{"type":"print","value":"0172-0643"},{"type":"electronic","value":"1432-1971"}],"subject":[],"published":{"date-parts":[[2019,4,16]]},"assertion":[{"value":"24 August 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 March 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 April 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The ethical committee of the Children\u2019s Hospital of Nanjing Medical University approved of this study for human research, and written informed consents were obtained from all DCM patients and legal guardians.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval and Consent to Participate"}},{"value":"Permissions were received from the patients whose photographs are to be published.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}}]}}