{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T04:20:21Z","timestamp":1784694021083,"version":"3.55.0"},"reference-count":60,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,6,4]],"date-time":"2018-06-04T00:00:00Z","timestamp":1528070400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"China Postdoctoral Science Foundation 55th General Financial Grant","award":["No. 2014M550007"],"award-info":[{"award-number":["No. 2014M550007"]}]},{"name":"Postdoctoral Fellowship of Peking University-Tshinghua University Center for Life Sciences","award":["No.31471205"],"award-info":[{"award-number":["No.31471205"]}]},{"DOI":"10.13039\/501100012166","name":"National Basic Research Program of China","doi-asserted-by":"crossref","award":["2013CB530700"],"award-info":[{"award-number":["2013CB530700"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Genomics"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1186\/s12864-018-4814-7","type":"journal-article","created":{"date-parts":[[2018,6,4]],"date-time":"2018-06-04T10:55:33Z","timestamp":1528109733000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["Genome and epigenome analysis of monozygotic twins discordant for congenital heart disease"],"prefix":"10.1186","volume":"19","author":[{"given":"Guoliang","family":"Lyu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Te","family":"Ling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Le","family":"Zong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiting","family":"Guan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoke","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijun","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Nie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Tao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,6,4]]},"reference":[{"issue":"4","key":"4814_CR1","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1161\/CIRCRESAHA.112.300853","volume":"112","author":"AC Fahed","year":"2013","unstructured":"Fahed AC, Gelb BD, Seidman J, Seidman CE. Genetics of congenital heart disease: the glass half empty. Circ Res. 2013;112(4):707\u201320.","journal-title":"Circ Res"},{"issue":"5","key":"4814_CR2","doi-asserted-by":"publisher","first-page":"1134","DOI":"10.1002\/ajmg.a.36978","volume":"167","author":"CJ McMahon","year":"2015","unstructured":"McMahon CJ, Breathnach C, Betts DR, Sharkey FH, Greally MT. De novo interstitial deletion 13q33. 3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay. Am J Med Genet A. 2015;167(5):1134\u201341.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"4814_CR3","doi-asserted-by":"publisher","first-page":"58","DOI":"10.3109\/14767058.2011.561387","volume":"25","author":"DR Hartge","year":"2012","unstructured":"Hartge DR, Niemeyer L, Axt-Fliedner R, Krapp M, Gembruch U, Germer U, Weichert J. Prenatal detection and postnatal management of double outlet right ventricle (DORV) in 21 singleton pregnancies. J Matern Fetal Neonatal Med. 2012;25(1):58\u201363.","journal-title":"J Matern Fetal Neonatal Med"},{"issue":"8","key":"4814_CR4","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1136\/jmg.2008.057984","volume":"45","author":"D Obler","year":"2008","unstructured":"Obler D, Juraszek A, 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":"9","key":"4814_CR5","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1038\/nrcardio.2010.104","volume":"7","author":"JM Ordov\u00e1s","year":"2010","unstructured":"Ordov\u00e1s JM, Smith CE. Epigenetics and cardiovascular disease. Nat Rev Cardiol. 2010;7(9):510.","journal-title":"Nat Rev Cardiol"},{"issue":"5","key":"4814_CR6","doi-asserted-by":"publisher","first-page":"390","DOI":"10.2174\/1389202915666140716175634","volume":"15","author":"C Vecoli","year":"2014","unstructured":"Vecoli C, Pulignani S, Foffa I, Grazia Andreassi M. Congenital heart disease: the crossroads of genetics, epigenetics and environment. Curr Genomics. 2014;15(5):390\u20139.","journal-title":"Curr Genomics"},{"issue":"3","key":"4814_CR7","doi-asserted-by":"publisher","first-page":"a008292","DOI":"10.1101\/cshperspect.a008292","volume":"5","author":"BG Bruneau","year":"2013","unstructured":"Bruneau BG. Signaling and transcriptional networks in heart development and regeneration. Cold Spring Harb Perspect Biol. 2013;5(3):a008292.","journal-title":"Cold Spring Harb Perspect Biol"},{"issue":"7","key":"4814_CR8","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1161\/CIRCRESAHA.109.204123","volume":"105","author":"CJ Hatcher","year":"2009","unstructured":"Hatcher CJ, Basson CT. Specification of the cardiac conduction system by transcription factors. Circ Res. 2009;105(7):620\u201330.","journal-title":"Circ Res"},{"issue":"4","key":"4814_CR9","doi-asserted-by":"publisher","first-page":"700","DOI":"10.1161\/CIRCRESAHA.116.302832","volume":"116","author":"IS Kathiriya","year":"2015","unstructured":"Kathiriya IS, Nora EP, Bruneau BG. Investigating the transcriptional control of cardiovascular development. Circ Res. 2015;116(4):700\u201314.","journal-title":"Circ Res"},{"issue":"20","key":"4814_CR10","doi-asserted-by":"publisher","first-page":"3871","DOI":"10.1007\/s00018-015-1974-3","volume":"72","author":"S Stefanovic","year":"2015","unstructured":"Stefanovic S, Christoffels VM. GATA-dependent transcriptional and epigenetic control of cardiac lineage specification and differentiation. Cell Mol Life Sci. 2015;72(20):3871\u201381.","journal-title":"Cell Mol Life Sci"},{"issue":"8","key":"4814_CR11","doi-asserted-by":"publisher","first-page":"3873","DOI":"10.1093\/nar\/gkv255","volume":"43","author":"L Liu","year":"2015","unstructured":"Liu L, Jin G, Zhou X. Modeling the relationship of epigenetic modifications to transcription factor binding. Nucleic Acids Res. 2015;43(8):3873\u201385.","journal-title":"Nucleic Acids Res"},{"issue":"2","key":"4814_CR12","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1038\/nrg3142","volume":"13","author":"R Feil","year":"2012","unstructured":"Feil R, Fraga MF. Epigenetics and the environment: emerging patterns and implications. Nat Rev Genet. 2012;13(2):97.","journal-title":"Nat Rev Genet"},{"issue":"19","key":"4814_CR13","doi-asserted-by":"publisher","first-page":"2145","DOI":"10.1161\/CIRCULATIONAHA.110.956839","volume":"123","author":"DE Handy","year":"2011","unstructured":"Handy DE, Castro R, Loscalzo J. Epigenetic modifications: basic mechanisms and role in cardiovascular disease. Circulation. 2011;123(19):2145\u201356.","journal-title":"Circulation"},{"issue":"8","key":"4814_CR14","doi-asserted-by":"publisher","first-page":"971","DOI":"10.4161\/epi.6.8.16793","volume":"6","author":"M Szyf","year":"2011","unstructured":"Szyf M. The early life social environment and DNA methylation: DNA methylation mediating the long-term impact of social environments early in life. Epigenetics. 2011;6(8):971\u20138.","journal-title":"Epigenetics"},{"issue":"3","key":"4814_CR15","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1038\/nrg3354","volume":"14","author":"ZD Smith","year":"2013","unstructured":"Smith ZD, Meissner A. DNA methylation: roles in mammalian development. Nat Rev Genet. 2013;14(3):204.","journal-title":"Nat Rev Genet"},{"issue":"1","key":"4814_CR16","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/j.molcel.2011.08.026","volume":"44","author":"E Hodges","year":"2011","unstructured":"Hodges E, Molaro A, Dos Santos CO, Thekkat P, Song Q, Uren PJ, Park J, Butler J, Rafii S, McCombie WR. Directional DNA methylation changes and complex intermediate states accompany lineage specificity in the adult hematopoietic compartment. Mol Cell. 2011;44(1):17\u201328.","journal-title":"Mol Cell"},{"issue":"6","key":"4814_CR17","doi-asserted-by":"publisher","first-page":"1044","DOI":"10.1101\/gr.088773.108","volume":"19","author":"AL Brunner","year":"2009","unstructured":"Brunner AL, Johnson DS, Kim SW, Valouev A, Reddy TE, Neff NF, Anton E, Medina C, Nguyen L, Chiao E. Distinct DNA methylation patterns characterize differentiated human embryonic stem cells and developing human fetal liver. Genome Res. 2009;19(6):1044\u201356.","journal-title":"Genome Res"},{"key":"4814_CR18","first-page":"49","volume":"2","author":"RR Kanherkar","year":"2014","unstructured":"Kanherkar RR, Bhatia-Dey N, Csoka AB. Epigenetics across the human lifespan. Frontiers in cell and developmental biology. 2014;2:49.","journal-title":"Frontiers in cell and developmental biology"},{"key":"4814_CR19","doi-asserted-by":"publisher","first-page":"5719","DOI":"10.1038\/ncomms6719","volume":"5","author":"W Yuan","year":"2014","unstructured":"Yuan W, Xia Y, Bell CG, Yet I, Ferreira T, Ward KJ, Gao F, Loomis AK, Hyde CL, Wu H. An integrated epigenomic analysis for type 2 diabetes susceptibility loci in monozygotic twins. Nat Commun. 2014;5:5719.","journal-title":"Nat Commun"},{"issue":"4","key":"4814_CR20","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1038\/mp.2013.41","volume":"19","author":"C Wong","year":"2014","unstructured":"Wong C, Meaburn EL, Ronald A, Price T, Jeffries AR, Schalkwyk L, Plomin R, Mill J. Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits. Mol Psychiatry. 2014;19(4):495.","journal-title":"Mol Psychiatry"},{"key":"4814_CR21","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms15493","volume":"8","author":"M Arora","year":"2017","unstructured":"Arora M, Reichenberg A, Willfors C, Austin C, Gennings C, Berggren S, Lichtenstein P, Anckars\u00e4ter H, Tammimies K, B\u00f6lte S. Fetal and postnatal metal dysregulation in autism. Nat Commun. 2017;8:15493.","journal-title":"Nat Commun"},{"issue":"3","key":"4814_CR22","doi-asserted-by":"publisher","first-page":"739","DOI":"10.2337\/db11-0617","volume":"61","author":"ML Caramori","year":"2012","unstructured":"Caramori ML, Kim Y, Moore JH, Rich SS, Mychaleckyj JC, Kikyo N, Mauer M. Gene expression differences in skin fibroblasts in identical twins discordant for type 1 diabetes. Diabetes. 2012;61(3):739\u201344.","journal-title":"Diabetes"},{"issue":"7","key":"4814_CR23","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1186\/s13073-014-0060-z","volume":"6","author":"JE Castillo-Fernandez","year":"2014","unstructured":"Castillo-Fernandez JE, Spector TD, Bell JT. Epigenetics of discordant monozygotic twins: implications for disease. Genome Med. 2014;6(7):60.","journal-title":"Genome Med"},{"issue":"1","key":"4814_CR24","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1093\/ije\/dyr179","volume":"41","author":"JT Bell","year":"2012","unstructured":"Bell JT, Saffery R. The value of twins in epigenetic epidemiology. Int J Epidemiol. 2012;41(1):140\u201350.","journal-title":"Int J Epidemiol"},{"issue":"3","key":"4814_CR25","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1016\/j.tig.2010.12.005","volume":"27","author":"JT Bell","year":"2011","unstructured":"Bell JT, Spector TD. A twin approach to unraveling epigenetics. Trends Genet. 2011;27(3):116\u201325.","journal-title":"Trends Genet"},{"issue":"9","key":"4814_CR26","doi-asserted-by":"publisher","first-page":"1261","DOI":"10.1172\/JCI14344","volume":"108","author":"GK Papadopoulos","year":"2001","unstructured":"Papadopoulos GK, Wijmenga C, Koning F. Interplay between genetics and the environment in the development of celiac disease: perspectives for a healthy life. J Clin Invest. 2001;108(9):1261\u20136.","journal-title":"J Clin Invest"},{"issue":"16","key":"4814_CR27","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R. The sequence alignment\/map format and SAMtools. Bioinformatics. 2009;25(16):2078\u20139.","journal-title":"Bioinformatics"},{"issue":"17","key":"4814_CR28","doi-asserted-by":"publisher","first-page":"2283","DOI":"10.1093\/bioinformatics\/btp373","volume":"25","author":"DC Koboldt","year":"2009","unstructured":"Koboldt DC, Chen K, Wylie T, Larson DE, McLellan MD, Mardis ER, Weinstock GM, Wilson RK, Ding L. VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics. 2009;25(17):2283\u20135.","journal-title":"Bioinformatics"},{"issue":"12","key":"4814_CR29","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1136\/jmg.2007.052183","volume":"44","author":"A Tomita-Mitchell","year":"2007","unstructured":"Tomita-Mitchell A, Maslen C, Morris C, Garg V, Goldmuntz E. GATA4 sequence variants in patients with congenital heart disease. J Med Genet. 2007;44(12):779\u201383.","journal-title":"J Med Genet"},{"issue":"1\u20132","key":"4814_CR30","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1007\/s11010-012-1397-5","volume":"370","author":"H Wang","year":"2012","unstructured":"Wang H, Chen D, Ma L, Meng H, Liu Y, Xie W, Pang S, Yan B. Genetic analysis of the TBX1 gene promoter in ventricular septal defects. Mol Cell Biochem. 2012;370(1\u20132):53\u20138.","journal-title":"Mol Cell Biochem"},{"key":"4814_CR31","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1146\/annurev.genom.9.081307.164217","volume":"10","author":"F Zhang","year":"2009","unstructured":"Zhang F, Gu W, Hurles ME, Lupski JR. Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet. 2009;10:451\u201381.","journal-title":"Annu Rev Genomics Hum Genet"},{"issue":"3","key":"4814_CR32","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1093\/bioinformatics\/btr670","volume":"28","author":"V Boeva","year":"2011","unstructured":"Boeva V, Popova T, Bleakley K, Chiche P, Cappo J, Schleiermacher G, Janoueix-Lerosey I, Delattre O, Barillot E. Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data. Bioinformatics. 2011;28(3):423\u20135.","journal-title":"Bioinformatics"},{"issue":"6","key":"4814_CR33","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1101\/gr.114876.110","volume":"21","author":"A Abyzov","year":"2011","unstructured":"Abyzov A, Urban AE, Snyder M, Gerstein M. CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res. 2011;21(6):974\u201384.","journal-title":"Genome Res"},{"issue":"24","key":"4814_CR34","doi-asserted-by":"publisher","first-page":"3382","DOI":"10.1101\/gad.1470906","volume":"20","author":"M Oda","year":"2006","unstructured":"Oda M, Yamagiwa A, Yamamoto S, Nakayama T, Tsumura A, Sasaki H, Nakao K, Li E, Okano M. DNA methylation regulates long-range gene silencing of an X-linked homeobox gene cluster in a lineage-specific manner. Genes Dev. 2006;20(24):3382\u201394.","journal-title":"Genes Dev"},{"key":"4814_CR35","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1038\/ng1089","volume":"33","author":"R Jaenisch","year":"2003","unstructured":"Jaenisch R, Bird A. Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. Nat Genet. 2003;33:245.","journal-title":"Nat Genet"},{"issue":"4","key":"4814_CR36","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1038\/nprot.2010.190","volume":"6","author":"H Gu","year":"2011","unstructured":"Gu H, Smith ZD, Bock C, Boyle P, Gnirke A, Meissner A. Preparation of reduced representation bisulfite sequencing libraries for genome-scale DNA methylation profiling. Nat Protoc. 2011;6(4):468.","journal-title":"Nat Protoc"},{"issue":"D1","key":"4814_CR37","doi-asserted-by":"publisher","first-page":"D353","DOI":"10.1093\/nar\/gkw1092","volume":"45","author":"M Kanehisa","year":"2016","unstructured":"Kanehisa M, Furumichi M, Tanabe M, Sato Y, Morishima K. KEGG: new perspectives on genomes, pathways, diseases and drugs. Nucleic Acids Res. 2016;45(D1):D353\u201361.","journal-title":"Nucleic Acids Res"},{"issue":"suppl_2","key":"4814_CR38","doi-asserted-by":"publisher","first-page":"W169","DOI":"10.1093\/nar\/gkm415","volume":"35","author":"DW Huang","year":"2007","unstructured":"Huang DW, Sherman BT, Tan Q, Kir J, Liu D, Bryant D, Guo Y, Stephens R, Baseler MW, Lane HC. DAVID bioinformatics resources: expanded annotation database and novel algorithms to better extract biology from large gene lists. Nucleic Acids Res. 2007;35(suppl_2):W169\u201375.","journal-title":"Nucleic Acids Res"},{"issue":"W1","key":"4814_CR39","doi-asserted-by":"publisher","first-page":"W90","DOI":"10.1093\/nar\/gkw377","volume":"44","author":"MV Kuleshov","year":"2016","unstructured":"Kuleshov MV, Jones MR, Rouillard AD, Fernandez NF, Duan Q, Wang Z, Koplev S, Jenkins SL, Jagodnik KM, Lachmann A. Enrichr: a comprehensive gene set enrichment analysis web server 2016 update. Nucleic Acids Res. 2016;44(W1):W90\u20137.","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"4814_CR40","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1242\/dev.02720","volume":"134","author":"Y Zhang","year":"2007","unstructured":"Zhang Y, Rath N, Hannenhalli S, Wang Z, Cappola T, Kimura S, Atochina-Vasserman E, Lu MM, Beers MF, Morrisey EE. GATA and Nkx factors synergistically regulate tissue-specific gene expression and development in vivo. Development. 2007;134(1):189\u201398.","journal-title":"Development"},{"issue":"12","key":"4814_CR41","doi-asserted-by":"publisher","first-page":"1413","DOI":"10.1161\/CIRCULATIONAHA.106.679589","volume":"116","author":"Y Wang","year":"2007","unstructured":"Wang Y. Mitogen-activated protein kinases in heart development and diseases. Circulation. 2007;116(12):1413\u201323.","journal-title":"Circulation"},{"issue":"4","key":"4814_CR42","doi-asserted-by":"publisher","first-page":"1507","DOI":"10.1152\/physrev.00054.2009","volume":"90","author":"BA Rose","year":"2010","unstructured":"Rose BA, Force T, Wang Y. Mitogen-activated protein kinase signaling in the heart: angels versus demons in a heart-breaking tale. Physiol Rev. 2010;90(4):1507\u201346.","journal-title":"Physiol Rev"},{"issue":"1","key":"4814_CR43","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1093\/cvr\/cvp270","volume":"84","author":"R Madonna","year":"2009","unstructured":"Madonna R, De Caterina R. VEGF receptor switching in heart development and disease. Cardiovasc Res. 2009;84(1):4\u20136.","journal-title":"Cardiovasc Res"},{"issue":"9","key":"4814_CR44","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1242\/dev.128.9.1531","volume":"128","author":"Y Dor","year":"2001","unstructured":"Dor Y, Camenisch TD, Itin A, Fishman GI, McDonald JA, Carmeliet P, Keshet E. A novel role for VEGF in endocardial cushion formation and its potential contribution to congenital heart defects. Development. 2001;128(9):1531\u20138.","journal-title":"Development"},{"issue":"1","key":"4814_CR45","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/j.ydbio.2008.07.038","volume":"322","author":"S Sridurongrit","year":"2008","unstructured":"Sridurongrit S, Larsson J, Schwartz R, Ruiz-Lozano P, Kaartinen V. Signaling via the Tgf-\u03b2 type I receptor Alk5 in heart development. Dev Biol. 2008;322(1):208\u201318.","journal-title":"Dev Biol"},{"issue":"11","key":"4814_CR46","doi-asserted-by":"publisher","first-page":"1189","DOI":"10.1038\/ng1446","volume":"36","author":"SD Bamforth","year":"2004","unstructured":"Bamforth SD, Bragan\u00e7a J, Farthing CR, Schneider JE, Broadbent C, Michell AC, Clarke K, Neubauer S, Norris D, Brown NA. Cited2 controls left-right patterning and heart development through a nodal-Pitx2c pathway. Nat Genet. 2004;36(11):1189.","journal-title":"Nat Genet"},{"issue":"8","key":"4814_CR47","doi-asserted-by":"publisher","first-page":"e139","DOI":"10.1371\/journal.pgen.0020139","volume":"2","author":"JJ Connelly","year":"2006","unstructured":"Connelly JJ, Wang T, Cox JE, Haynes C, Wang L, Shah SH, Crosslin DR, Hale AB, Nelson S, Crossman DC. GATA2 is associated with familial early-onset coronary artery disease. PLoS Genet. 2006;2(8):e139.","journal-title":"PLoS Genet"},{"issue":"15","key":"4814_CR48","doi-asserted-by":"publisher","first-page":"2931","DOI":"10.1007\/s00018-013-1523-x","volume":"71","author":"MH Paul","year":"2014","unstructured":"Paul MH, Harvey RP, Wegner M, Sock E. Cardiac outflow tract development relies on the complex function of Sox4 and Sox11 in multiple cell types. Cell Mol Life Sci. 2014;71(15):2931\u201345.","journal-title":"Cell Mol Life Sci"},{"issue":"1","key":"4814_CR49","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1086\/380998","volume":"74","author":"SM Ware","year":"2004","unstructured":"Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet. 2004;74(1):93\u2013105.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"4814_CR50","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1002\/humu.22457","volume":"35","author":"J Cowan","year":"2014","unstructured":"Cowan J, Tariq M, Ware SM. Genetic and functional analyses of ZIC3 variants in congenital heart disease. Hum Mutat. 2014;35(1):66\u201375.","journal-title":"Hum Mutat"},{"issue":"4","key":"4814_CR51","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1016\/j.ajhg.2014.03.007","volume":"94","author":"S Al Turki","year":"2014","unstructured":"Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz M-P, Lindsay S, D\u2019Alessandro LC, Swaminathan GJ, Bentham J, Arndt A-K. Rare variants in NR2F2 cause congenital heart defects in humans. Am J Hum Genet. 2014;94(4):574\u201385.","journal-title":"Am J Hum Genet"},{"issue":"5","key":"4814_CR52","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1016\/j.ajhg.2015.10.004","volume":"97","author":"X Chen","year":"2015","unstructured":"Chen X, Kuja-Halkola R, Rahman I, Arpeg\u00e5rd J, Viktorin A, Karlsson R, H\u00e4gg S, Svensson P, Pedersen NL, Magnusson PK. Dominant genetic variation and missing heritability for human complex traits: insights from twin versus genome-wide common SNP models. Am J Hum Genet. 2015;97(5):708\u201314.","journal-title":"Am J Hum Genet"},{"issue":"30","key":"4814_CR53","doi-asserted-by":"publisher","first-page":"10604","DOI":"10.1073\/pnas.0500398102","volume":"102","author":"MF Fraga","year":"2005","unstructured":"Fraga MF, Ballestar E, Paz MF, Ropero S, Setien F, Ballestar ML, Heine-Su\u00f1er D, Cigudosa JC, Urioste M, Benitez J. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci U S A. 2005;102(30):10604\u20139.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"4814_CR54","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1016\/j.ydbio.2011.10.026","volume":"361","author":"TJ Fujimi","year":"2012","unstructured":"Fujimi TJ, Hatayama M, Aruga J. Xenopus Zic3 controls notochord and organizer development through suppression of the Wnt\/\u03b2-catenin signaling pathway. Dev Biol. 2012;361(2):220\u201331.","journal-title":"Dev Biol"},{"key":"4814_CR55","doi-asserted-by":"crossref","unstructured":"Mendoza-Villarroel RE, Robert NM, Martin LJ, Brousseau C, Tremblay JJ. The nuclear receptor NR2F2 activates star expression and steroidogenesis in mouse MA-10 and MLTC-1 Leydig cells. Biol Reprod. 2014;91(1)","DOI":"10.1095\/biolreprod.113.115790"},{"issue":"2","key":"4814_CR56","doi-asserted-by":"publisher","first-page":"e9417","DOI":"10.1371\/journal.pone.0009417","volume":"5","author":"MA Hubert","year":"2010","unstructured":"Hubert MA, Sherritt SL, Bachurski CJ, Handwerger S. Involvement of transcription factor NR2F2 in human trophoblast differentiation. PLoS One. 2010;5(2):e9417.","journal-title":"PLoS One"},{"issue":"10","key":"4814_CR57","doi-asserted-by":"publisher","first-page":"1565","DOI":"10.1007\/s00439-012-1189-8","volume":"131","author":"VK Cortessis","year":"2012","unstructured":"Cortessis VK, Thomas DC, Levine AJ, Breton CV, Mack TM, Siegmund KD, Haile RW, Laird PW. Environmental epigenetics: prospects for studying epigenetic mediation of exposure\u2013response relationships. Hum Genet. 2012;131(10):1565\u201389.","journal-title":"Hum Genet"},{"issue":"1","key":"4814_CR58","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1159\/000353688","volume":"1","author":"TL Hogenson","year":"2013","unstructured":"Hogenson TL. Epigenetics as the underlying mechanism for monozygotic twin discordance. Medical Epigenetics. 2013;1(1):3\u201318.","journal-title":"Medical Epigenetics"},{"issue":"6","key":"4814_CR59","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1093\/bioinformatics\/btq033","volume":"26","author":"AR Quinlan","year":"2010","unstructured":"Quinlan AR, Hall IM. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics. 2010;26(6):841\u20132.","journal-title":"Bioinformatics"},{"key":"4814_CR60","doi-asserted-by":"crossref","unstructured":"Karolchik D, Hinrichs AS, Kent WJ: The UCSC genome browser. Current protocols in bioinformatics 2012, 40(1):1.4. 1\u20131.4. 33.","DOI":"10.1002\/0471250953.bi0104s00"}],"container-title":["BMC Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12864-018-4814-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12864-018-4814-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12864-018-4814-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,24]],"date-time":"2022-08-24T23:48:04Z","timestamp":1661384884000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcgenomics.biomedcentral.com\/articles\/10.1186\/s12864-018-4814-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,4]]},"references-count":60,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["4814"],"URL":"https:\/\/doi.org\/10.1186\/s12864-018-4814-7","relation":{},"ISSN":["1471-2164"],"issn-type":[{"value":"1471-2164","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,4]]},"assertion":[{"value":"23 June 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 May 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 June 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This study was conducted in accordance with the principles of the Declaration of Helsinki and has been reviewed and approved by the Medical Ethics Committee of Fuwai Hospital (Approval no. 229). We confirm the informed written consent was obtained from all participants.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"For investigations involving clinical subjects, informed written consent has been obtained from the participants involved. The participants consented to publish all of the sequencing data.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Publisher\u2019s Note"}}],"article-number":"428"}}