{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T20:57:14Z","timestamp":1793307434018,"version":"4.5.0"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"1","funder":[{"name":"973 National Basic Research Program of China","award":["2013CB945400"],"award-info":[{"award-number":["2013CB945400"]}]},{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81430005"],"award-info":[{"award-number":["81430005"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81270232"],"award-info":[{"award-number":["81270232"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002338","name":"Ministry of Education of the People's Republic of China (CN)","doi-asserted-by":"publisher","award":["313016"],"award-info":[{"award-number":["313016"]}],"id":[{"id":"10.13039\/501100002338","id-type":"DOI","asserted-by":"publisher"}]},{"name":"the Commission for Science and Technology of Shanghai Municipality","award":["13JC1407600"],"award-info":[{"award-number":["13JC1407600"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1186\/s12920-015-0163-4","type":"journal-article","created":{"date-parts":[[2016,1,7]],"date-time":"2016-01-07T23:09:00Z","timestamp":1452208140000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population"],"prefix":"10.1186","volume":"9","author":[{"given":"Yu","family":"An","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenyuan","family":"Duan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoying","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoli","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenxia","family":"Nie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Hou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yonghao","family":"Gui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiming","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiping","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bailin","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongyan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,1,8]]},"reference":[{"issue":"12","key":"163_CR1","doi-asserted-by":"crossref","first-page":"1890","DOI":"10.1016\/S0735-1097(02)01886-7","volume":"39","author":"JI Hoffman","year":"2002","unstructured":"Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002;39(12):1890\u2013900.","journal-title":"J Am Coll Cardiol"},{"issue":"3","key":"163_CR2","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1161\/01.RES.0000116144.43797.3B","volume":"94","author":"PJ Gruber","year":"2004","unstructured":"Gruber PJ, Epstein JA. Development gone awry: congenital heart disease. Circ Res. 2004;94(3):273\u201383.","journal-title":"Circ Res"},{"issue":"4","key":"163_CR3","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1136\/hrt.50.4.343","volume":"50","author":"JE Otterstad","year":"1983","unstructured":"Otterstad JE, Nitter-Hauge S, Myhre E. Isolated ventricular septal defect in adults. Clinical and haemodynamic findings. Br Heart J. 1983;50(4):343\u20138.","journal-title":"Br Heart J"},{"issue":"8","key":"163_CR4","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1007\/s00246-011-0034-5","volume":"32","author":"RJ Hartman","year":"2011","unstructured":"Hartman RJ, Rasmussen SA, Botto LD, Riehle-Colarusso T, Martin CL, Cragan JD, et al. The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based Study. Pediatr Cardiol. 2011;32(8):1147\u201357.","journal-title":"Pediatr Cardiol"},{"issue":"5","key":"163_CR5","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1016\/j.jpeds.2009.11.049","volume":"156","author":"J Breckpot","year":"2010","unstructured":"Breckpot J, Thienpont B, Peeters H, de Ravel T, Singer A, Rayyan M, et al. Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects. J Pediatr. 2010;156(5):810\u20137. 817 e811-817 e814.","journal-title":"J Pediatr"},{"key":"163_CR6","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1002\/(SICI)1096-8628(19990521)84:2<158::AID-AJMG13>3.0.CO;2-5","volume":"84","author":"CDM Karnebeek van","year":"1999","unstructured":"van Karnebeek CDM, Hennekam RCM. Associations Between Chromosomal Anomalies and Congenital Heart Defects: A Database Search. Am J Med Genet. 1999;84:158\u201366.","journal-title":"Am J Med Genet"},{"issue":"22","key":"163_CR7","doi-asserted-by":"crossref","first-page":"2778","DOI":"10.1093\/eurheartj\/ehl560","volume":"28","author":"B Thienpont","year":"2007","unstructured":"Thienpont B, Mertens L, de Ravel T, Eyskens B, Boshoff D, Maas N, et al. Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J. 2007;28(22):2778\u201384.","journal-title":"Eur Heart J"},{"issue":"8","key":"163_CR8","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1038\/ng.415","volume":"41","author":"SC Greenway","year":"2009","unstructured":"Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet. 2009;41(8):931\u20135.","journal-title":"Nat Genet"},{"issue":"11","key":"163_CR9","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1136\/jmg.2008.058776","volume":"45","author":"F Erdogan","year":"2008","unstructured":"Erdogan F, Larsen LA, Zhang L, Tumer Z, Tommerup N, Chen W, et al. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. J Med Genet. 2008;45(11):704\u20139.","journal-title":"J Med Genet"},{"issue":"3","key":"163_CR10","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.ajhg.2012.08.003","volume":"91","author":"R Soemedi","year":"2012","unstructured":"Soemedi R, Wilson IJ, Bentham J, Darlay R, Topf A, Zelenika D, et al. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet. 2012;91(3):489\u2013501.","journal-title":"Am J Hum Genet"},{"issue":"8","key":"163_CR11","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1136\/jmg.2008.057984","volume":"45","author":"D Obler","year":"2008","unstructured":"Obler D, Juraszek AL, Smoot LB, Natowicz MR. Double outlet right ventricle: aetiologies and associations. J Med Genet. 2008;45(8):481\u201397.","journal-title":"J Med Genet"},{"issue":"6","key":"163_CR12","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1016\/j.ajhg.2010.09.015","volume":"87","author":"SK Prakash","year":"2010","unstructured":"Prakash SK, LeMaire SA, Guo DC, Russell L, Regalado ES, Golabbakhsh H, et al. Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections. Am J Hum Genet. 2010;87(6):743\u201356.","journal-title":"Am J Hum Genet"},{"key":"163_CR13","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1186\/1471-2164-15-1127","volume":"15","author":"J Geng","year":"2014","unstructured":"Geng J, Picker J, Zheng Z, Zhang X, Wang J, Hisama F, et al. Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. BMC Genomics. 2014;15:1127.","journal-title":"BMC Genomics"},{"issue":"9","key":"163_CR14","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1002\/pd.4383","volume":"34","author":"C Liao","year":"2014","unstructured":"Liao C, Li R, Fu F, Xie G, Zhang Y, Pan M, et al. Prenatal diagnosis of congenital heart defect by genome-wide high-resolution SNP array. Prenat Diagn. 2014;34(9):858\u201363.","journal-title":"Prenat Diagn"},{"issue":"Database issue","key":"163_CR15","doi-asserted-by":"crossref","first-page":"D986","DOI":"10.1093\/nar\/gkt958","volume":"42","author":"JRZR MacDonald","year":"2014","unstructured":"MacDonald JRZR, Yuen RK, Feuk L, Scherer SW. The database of genomic variants: a curated collection of structural variation in the human genome. Nucleic Acids Res. 2014;42(Database issue):D986\u201392.","journal-title":"Nucleic Acids Res"},{"issue":"9","key":"163_CR16","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1038\/ng1416","volume":"36","author":"AJFL Iafrate","year":"2004","unstructured":"Iafrate AJFL, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, et al. Detection of large-scale variation in the human genome. Nat Genet. 2004;36(9):949\u201351.","journal-title":"Nat Genet"},{"issue":"5","key":"163_CR17","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1038\/ng.555","volume":"42","author":"H Park","year":"2010","unstructured":"Park H, Kim JI, Ju YS, Gokcumen O, Mills RE, Kim S, et al. Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet. 2010;42(5):400\u20135.","journal-title":"Nat Genet"},{"issue":"4","key":"163_CR18","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.ygeno.2009.06.004","volume":"94","author":"CH Lin","year":"2009","unstructured":"Lin CH, Lin YC, Wu JY, Pan WH, Chen YT, Fann CS. A genome-wide survey of copy number variations in Han Chinese residing in Taiwan. Genomics. 2009;94(4):241\u20136.","journal-title":"Genomics"},{"issue":"11","key":"163_CR19","doi-asserted-by":"crossref","first-page":"2154","DOI":"10.1101\/gr.095000.109","volume":"19","author":"YY Teo","year":"2009","unstructured":"Teo YY, Sim X, Ong RT, Tan AK, Chen J, Tantoso E, et al. Singapore Genome Variation Project: a haplotype map of three Southeast Asian populations. Genome Res. 2009;19(11):2154\u201362.","journal-title":"Genome Res"},{"issue":"11","key":"163_CR20","doi-asserted-by":"crossref","first-page":"2154","DOI":"10.1101\/gr.095000.109","volume":"19","author":"SX Teo YY","year":"2009","unstructured":"Teo YY SX, Ong RTH, Tan AKS, Chen JM, Tantoso E, Small KS, et al. Singapore Genome Variation Project: A Haplotype map of three South-East Asian populations. Genome Res. 2009;19(11):2154\u201362.","journal-title":"Genome Res"},{"issue":"4","key":"163_CR21","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","volume":"84","author":"HV Firth","year":"2009","unstructured":"Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet. 2009;84(4):524\u201333.","journal-title":"Am J Hum Genet"},{"issue":"Web Server issu","key":"163_CR22","doi-asserted-by":"crossref","first-page":"W305","DOI":"10.1093\/nar\/gkp427","volume":"37","author":"J Chen","year":"2009","unstructured":"Chen J, Bardes EE, Aronow BJ, Jegga AG. ToppGene Suite for gene list enrichment analysis and candidate gene prioritization. Nucleic Acids Res. 2009;37(Web Server issue):W305\u201311.","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"163_CR23","doi-asserted-by":"crossref","first-page":"440","DOI":"10.5152\/akd.2010.143","volume":"10","author":"E Mihci","year":"2010","unstructured":"Mihci E, Akcurin G, Eren E, Kardelen F, Akcurin S, Keser I, et al. Evaluation of congenital heart diseases and thyroid abnormalities in children with Down syndrome. Anadolu Kardiyol Derg. 2010;10(5):440\u20135.","journal-title":"Anadolu Kardiyol Derg"},{"key":"163_CR24","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1750-1172-5-8","volume":"5","author":"NR Tartaglia","year":"2010","unstructured":"Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. A review of trisomy X (47, XXX). Orphanet J Rare Dis. 2010;5:8.","journal-title":"Orphanet J Rare Dis"},{"issue":"12","key":"163_CR25","doi-asserted-by":"crossref","first-page":"2788","DOI":"10.1002\/ajmg.a.33088","volume":"149A","author":"MR Rossi","year":"2009","unstructured":"Rossi MR, DiMaio MS, Xiang B, Lu K, Kaymakcalan H, Seashore M, et al. Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature. Am J Med Genet A. 2009;149A(12):2788\u201394.","journal-title":"Am J Med Genet A"},{"issue":"4","key":"163_CR26","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1159\/000284391","volume":"73","author":"R Visser","year":"2010","unstructured":"Visser R, Gijsbers A, Ruivenkamp C, Karperien M, Reeser HM, Breuning MH, et al. Genome-wide SNP array analysis in patients with features of sotos syndrome. Horm Res Paediatr. 2010;73(4):265\u201374.","journal-title":"Horm Res Paediatr"},{"issue":"6","key":"163_CR27","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1016\/j.cell.2005.08.020","volume":"122","author":"LA Boyer","year":"2005","unstructured":"Boyer LA, Lee TI, Cole MF, Johnstone SE, Levine SS, Zucker JP, et al. Core transcriptional regulatory circuitry in human embryonic stem cells. Cell. 2005;122(6):947\u201356.","journal-title":"Cell"},{"issue":"9","key":"163_CR28","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1152\/physiolgenomics.00013.2012","volume":"44","author":"A Tomita-Mitchell","year":"2012","unstructured":"Tomita-Mitchell A, Mahnke DK, Struble CA, Tuffnell ME, Stamm KD, Hidestrand M, et al. Human gene copy number spectra analysis in congenital heart malformations. Physiol Genomics. 2012;44(9):518\u201341.","journal-title":"Physiol Genomics"},{"issue":"5","key":"163_CR29","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1007\/s00246-012-0208-9","volume":"33","author":"AR Payne","year":"2012","unstructured":"Payne AR, Chang SW, Koenig SN, Zinn AR, Garg V. Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome. Pediatr Cardiol. 2012;33(5):757\u201363.","journal-title":"Pediatr Cardiol"},{"issue":"1","key":"163_CR30","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1006\/geno.2000.6146","volume":"65","author":"G Buchner","year":"2000","unstructured":"Buchner G, Orfanelli U, Quaderi N, Bassi MT, Andolfi G, Ballabio A, et al. Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders. Genomics. 2000;65(1):16\u201323.","journal-title":"Genomics"},{"issue":"5","key":"163_CR31","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1161\/CIRCGENETICS.113.000189","volume":"6","author":"AS Carey","year":"2013","unstructured":"Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, et al. Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circ Cardiovasc Genet. 2013;6(5):444\u201351.","journal-title":"Circ Cardiovasc Genet"},{"issue":"18","key":"163_CR32","doi-asserted-by":"crossref","first-page":"3471","DOI":"10.1242\/dev.124.18.3471","volume":"124","author":"K Jagla","year":"1997","unstructured":"Jagla K, Frasch M, Jagla T, Dretzen G, Bellard F, Bellard M. ladybird, a new component of the cardiogenic pathway in Drosophila required for diversification of heart precursors. Development. 1997;124(18):3471\u20139.","journal-title":"Development"},{"issue":"2","key":"163_CR33","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1242\/dev.02183","volume":"133","author":"BL Martin","year":"2006","unstructured":"Martin BL, Harland RM. A novel role for lbx1 in Xenopus hypaxial myogenesis. Development. 2006;133(2):195\u2013208.","journal-title":"Development"},{"issue":"24","key":"163_CR34","doi-asserted-by":"crossref","first-page":"7174","DOI":"10.1093\/emboj\/20.24.7174","volume":"20","author":"D Mennerich","year":"2001","unstructured":"Mennerich D, Braun T. Activation of myogenesis by the homeobox gene Lbx1 requires cell proliferation. EMBO J. 2001;20(24):7174\u201383.","journal-title":"EMBO J"},{"issue":"1","key":"163_CR35","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1136\/hrt.46.1.47","volume":"46","author":"DF Dickinson","year":"1981","unstructured":"Dickinson DF, Arnold R, Wilkinson JL. Ventricular septal defect in children born in Liverpool 1960 to 1969. Evaluation of natural course and surgical implications in an unselected population. Br Heart J. 1981;46(1):47\u201354.","journal-title":"Br Heart J"},{"issue":"7453","key":"163_CR36","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1038\/nature12141","volume":"498","author":"S Zaidi","year":"2013","unstructured":"Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013;498(7453):220\u20133.","journal-title":"Nature"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-015-0163-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T04:34:49Z","timestamp":1654058089000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.biomedcentral.com\/1755-8794\/9\/2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12]]},"references-count":36,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["163"],"URL":"https:\/\/doi.org\/10.1186\/s12920-015-0163-4","relation":{},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12]]},"article-number":"2"}}