{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:15:39Z","timestamp":1792782939780,"version":"4.5.0"},"reference-count":121,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2016,11,2]],"date-time":"2016-11-02T00:00:00Z","timestamp":1478044800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"University of Medicine and Pharmacy, Tg.Mures, Romania","award":["27\/11.12.2013"],"award-info":[{"award-number":["27\/11.12.2013"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Biochem Genet"],"published-print":{"date-parts":[[2017,4]]},"DOI":"10.1007\/s10528-016-9780-7","type":"journal-article","created":{"date-parts":[[2016,11,2]],"date-time":"2016-11-02T08:17:51Z","timestamp":1478074671000},"page":"105-123","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":63,"title":["Genetics of Congenital Heart Disease: Past and Present"],"prefix":"10.1007","volume":"55","author":[{"given":"Iolanda","family":"Muntean","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodica","family":"Tog\u0103nel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodora","family":"Benedek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,11,2]]},"reference":[{"key":"9780_CR555","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.ajhg.2012.08.017","volume":"91","author":"C Ackerman","year":"2012","unstructured":"Ackerman C, Locke AE, Feingold E, Reshey B, Espana K, Thusberg J, Mooney S, Bean LJH, Dooley KJ, Cua CL, Reeves RH, Sherman SL, Maslen CL (2012) An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. Am J Hum Genet 91:646\u2013659","journal-title":"Am J Hum Genet"},{"key":"9780_CR1","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0022-3476(75)80706-2","volume":"86","author":"D Alagille","year":"1975","unstructured":"Alagille D, Odievre M, Gautier M, Dommergues JP (1975) Hepatic ductular hypoplasia associated with characteristic faces, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur. J Pediat 86:63\u201371","journal-title":"J Pediat"},{"key":"9780_CR2","doi-asserted-by":"crossref","first-page":"2507","DOI":"10.1016\/j.jacc.2014.09.049","volume":"64","author":"G Andelfinger","year":"2014","unstructured":"Andelfinger G (2014) Next-generation sequencing in congenital heart disease: do new brooms sweep clean? J Am Coll Cardiol 64:2507\u20132509","journal-title":"J Am Coll Cardiol"},{"key":"9780_CR3","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1038\/ng1641","volume":"37","author":"Y Aoki","year":"2005","unstructured":"Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y (2005) Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 37:1038\u20131040","journal-title":"Nat Genet"},{"key":"9780_CR4","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.ajhg.2013.05.021","volume":"93","author":"Y Aoki","year":"2013","unstructured":"Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C et al (2013) Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS\/MAPK pathway syndrome. Am J Hum Genet 93:173\u2013180","journal-title":"Am J Hum Genet"},{"key":"9780_CR5","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1038\/nature08733","volume":"463","author":"R Bajpai","year":"2010","unstructured":"Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, Helms J, Chang CP, Zhao Y, Swigut T, Wysocka J (2010) CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature 463:958\u2013962","journal-title":"Nature"},{"key":"9780_CR6","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/S0092-8674(04)00045-5","volume":"116","author":"DP Bartel","year":"2004","unstructured":"Bartel DP (2004) MicroRNAs: genomics, biogenesis, mechanism, and function. Cell 116:281\u2013297","journal-title":"Cell"},{"key":"9780_CR7","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/ng0197-30","volume":"15","author":"CT Basson","year":"1997","unstructured":"Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE (1997) Mutations in human TBX5 cause limb and cardiac malformation in Holt\u2013Oram syndrome. Nat Genet 15:30\u201335","journal-title":"Nat Genet"},{"issue":"2","key":"9780_CR8","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1542\/peds.2007-0929","volume":"121","author":"A Battaglia","year":"2008","unstructured":"Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C et al (2008) Further delination of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 121(2):404\u2013410","journal-title":"Pediatrics"},{"key":"9780_CR9","doi-asserted-by":"crossref","first-page":"713","DOI":"10.3390\/cells3030713","volume":"3","author":"DC Bittel","year":"2014","unstructured":"Bittel DC, Kibiryeva N, Marshall JA et al (2014) MicroRNA-421 dysregulation is associated with tetralogy of Fallot. Cells 3:713\u2013723","journal-title":"Cells"},{"key":"9780_CR10","doi-asserted-by":"crossref","first-page":"2498","DOI":"10.1016\/j.jacc.2014.09.048","volume":"64","author":"GM Blue","year":"2014","unstructured":"Blue GM, Kirk EP, Giannoulatou E et al (2014) Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease. J Am Coll Cardiol 64:2498\u20132506","journal-title":"J Am Coll Cardiol"},{"key":"9780_CR11","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1002\/9780470893159.ch54","volume-title":"Management of genetic syndromes","author":"JC Carey","year":"2010","unstructured":"Carey JC (2010) Trisomy 18 and trisomy 13 syndromes. In: Cassidy SB, Allanson JE (eds) Management of genetic syndromes, 3rd edn. Wiley, New York, pp 807\u2013823","edition":"3"},{"key":"9780_CR12","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1196\/annals.1420.004","volume":"1123","author":"D Catalucci","year":"2008","unstructured":"Catalucci D, Latronico MV, Condorelli G (2008) MicroRNAs control gene expression: importance for cardiac development and pathophysiology. Ann N Y Acad Sci 1123:20\u201329","journal-title":"Ann N Y Acad Sci"},{"key":"9780_CR13","doi-asserted-by":"crossref","first-page":"8467","DOI":"10.1128\/MCB.24.19.8467-8476.2004","volume":"24","author":"S Chang","year":"2004","unstructured":"Chang S, McKinsey TA, Zhang CL, Richardson JA, Hill JA, Olson EN (2004) Histone deacetylases 5 and 9 govern responsiveness of the heart to a subset of stress signals and play redundant roles in heart development. Mol Cell Biol 24:8467\u20138476","journal-title":"Mol Cell Biol"},{"key":"9780_CR14","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.2174\/13895575110091263","volume":"10","author":"AV Chavan","year":"2010","unstructured":"Chavan AV, Somani RR (2010) HDAC inhibitors\u2013new generation of target specific treatment. Mini Rev Med Chem 10:1263\u20131276","journal-title":"Mini Rev Med Chem"},{"key":"9780_CR15","doi-asserted-by":"crossref","first-page":"10794","DOI":"10.1073\/pnas.1934713100","volume":"100","author":"HL Cheng","year":"2003","unstructured":"Cheng HL, Mostoslavsky R, Saito S, Manis JP, Gu Y, Patel P et al (2003) Developmental defects and p53 hyperacetylation in Sir2 homolog (SIRT1)-deficient mice. Proc Natl Acad Sci USA 100:10794\u201310799","journal-title":"Proc Natl Acad Sci USA"},{"key":"9780_CR16","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ng.497","volume":"42","author":"IC Cirstea","year":"2010","unstructured":"Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, Konig R, Kratz CP, Pantaleoni F et al (2010) A restricted spectrum of NRAS mutations cause Noonan syndrome. Nat Genet 42:27\u201329","journal-title":"Nat Genet"},{"key":"9780_CR17","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1146\/annurev.biochem.77.062706.153223","volume":"78","author":"CR Clapier","year":"2009","unstructured":"Clapier CR, Cairns BR (2009) The biology of chromatin remodeling complexes. Ann Rev Biochem 78:273\u2013304","journal-title":"Ann Rev Biochem"},{"issue":"6","key":"9780_CR18","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1016\/j.amjcard.2009.10.069","volume":"105","author":"RT Collins","year":"2010","unstructured":"Collins RT, Kaplan P, Somes GW, Rome JJ (2010) Long-term outcomes of patients with cardiovascular abnormalities and William syndromes. Am J Cardiol 105(6):874\u2013878","journal-title":"Am J Cardiol"},{"issue":"6","key":"9780_CR19","doi-asserted-by":"publisher","first-page":"223","DOI":"10.3389\/fgene.2015.00223","volume":"25","author":"F Coppede","year":"2015","unstructured":"Coppede F (2015) The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects. Front Genet 25(6):223. doi: 10.3389\/fgene.2015.00223","journal-title":"Front Genet"},{"key":"9780_CR20","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/S0027-5107(01)00160-9","volume":"479","author":"C Dasgupta","year":"2001","unstructured":"Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH (2001) Identification of connexin43 (alpha-1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res 479:173\u2013186","journal-title":"Mutat Res"},{"key":"9780_CR21","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1086\/341528","volume":"71","author":"MC Digilio","year":"2002","unstructured":"Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B (2002) Grouping of multiple-lentigines\/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 71:389\u2013394","journal-title":"Am J Hum Genet"},{"key":"9780_CR22","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1093\/hmg\/10.2.163","volume":"10","author":"ZA Eldadah","year":"2001","unstructured":"Eldadah ZA, Hamosh A, Biery NJ, Montgomery RA, Duke M, Elkins R, Dietz HC (2001) Familial tetralogy of Fallot caused by mutation in the jagged1 gene. Hum Mol Genet 10:163\u2013169","journal-title":"Hum Mol Genet"},{"key":"9780_CR23","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1172\/JCI117057","volume":"93","author":"AK Ewart","year":"1994","unstructured":"Ewart AK, Jin W, Atkinson D, Morris CA, Keating MT (1994) Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J Clin Invest 93:1071\u20131077","journal-title":"J Clin Invest"},{"key":"9780_CR24","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1161\/CIRCRESAHA.112.300853","volume":"112","author":"AC Fahed","year":"2013","unstructured":"Fahed AC, Gelb BD, Seidman JG, Seidman CE (2013) Genetics of congenital heart disease the glass half empty. Circ Res 112:707\u2013720","journal-title":"Circ Res"},{"key":"9780_CR25","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1161\/01.CIR.0000024114.82981.EA","volume":"106","author":"Q Feng","year":"2002","unstructured":"Feng Q, Song W, Lu X, Hamilton JA, Lei M, Peng T, Yee SP (2002) Development of heart failure and congenital septal defects in mice lacking endothelial nitric oxide synthase. Circulation 106:873\u2013879","journal-title":"Circulation"},{"key":"9780_CR26","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1097\/GIM.0b013e3181634867","volume":"10","author":"SB Freeman","year":"2008","unstructured":"Freeman SB, Bean LH, Allen EG et al (2008) Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med 10:173\u2013180","journal-title":"Genet Med"},{"key":"9780_CR27","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/nature01827","volume":"424","author":"V Garg","year":"2003","unstructured":"Garg V, Kathiriya IS, Barnes R et al (2003) GATA mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424:443\u2013447","journal-title":"Nature"},{"key":"9780_CR28","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/nature03940","volume":"437","author":"V Garg","year":"2005","unstructured":"Garg V, Muth AN, Ransom JF, Schluterman MK, Barnes R, King IN, Grossfeld PD, Srivastava D (2005) Mutations in NOTCH1 cause aortic valve disease. Nature 437:270\u2013274","journal-title":"Nature"},{"key":"9780_CR29","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1038\/ejhg.2011.258","volume":"20","author":"C Glissen","year":"2012","unstructured":"Glissen C, Hoischen A, Brunner HG, Veltman JA (2012) Disease gene identification strategies for exome sequencing European. J Hum Genet 20:490\u2013497","journal-title":"J Hum Genet"},{"key":"9780_CR30","doi-asserted-by":"crossref","first-page":"2565","DOI":"10.1161\/hc4601.098427","volume":"104","author":"E Goldmuntz","year":"2001","unstructured":"Goldmuntz E, Geiger E, Benson DW (2001) NKX2.5 mutations in patients with tetralogy of Fallot. Circulation 104:2565\u20132568","journal-title":"Circulation"},{"issue":"5","key":"9780_CR31","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1136\/adc.71.5.433","volume":"71","author":"CO Gotzsche","year":"1994","unstructured":"Gotzsche CO, Kraq-Olsen B, Nielsen J, Sorensen KE, Kristensen BO (1994) Prevalence of cardiovascular malformations and association with cariotypes in Turner\u2019s syndrome. Arch Dis Child 71(5):433\u2013436","journal-title":"Arch Dis Child"},{"issue":"3","key":"9780_CR32","doi-asserted-by":"crossref","first-page":"e4978","DOI":"10.1371\/journal.pone.0004978","volume":"4","author":"HR Griffin","year":"2009","unstructured":"Griffin HR, Hall DH, Topf A et al (2009) Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation. PLoS ONE 4(3):e4978","journal-title":"PLoS ONE"},{"issue":"3","key":"9780_CR33","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1161\/CIRCRESAHA.110.224287","volume":"108","author":"P Han","year":"2011","unstructured":"Han P, Hang CT, Yang J, Chang CP (2011) Chromatin remodeling in cardiovascular development and physiology. Circ Res 108(3):378\u2013396","journal-title":"Circ Res"},{"key":"9780_CR34","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/nature09130","volume":"466","author":"CT Hang","year":"2010","unstructured":"Hang CT, Yang J, Han P, Cheng HL, Shang C, Ashley E et al (2010) Chromatin regulation by Brg1 underlies heart muscle development and disease. Nature 466:62\u201367","journal-title":"Nature"},{"key":"9780_CR35","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1093\/hmg\/ddi055","volume":"14","author":"K Heathcote","year":"2005","unstructured":"Heathcote K, Braybrook C, Abushaban L, Guy M, Khetyar ME, Patton MA, Carter ND, Scambler PJ, Syrris P (2005) Common arterial trunk associated with a homeodomain mutation of NKX2.6. Hum Mol Genet 14:585\u2013593","journal-title":"Hum Mol Genet"},{"issue":"7280","key":"9780_CR36","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1038\/nature08911","volume":"463","author":"L Ho","year":"2010","unstructured":"Ho L, Crabtree GR (2010) Chromatin remodelling during development. Nature 463(7280):474\u2013484","journal-title":"Nature"},{"key":"9780_CR37","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 (2002) The incidence of congenital heart disease. J Am Coll Cardiol 39:1890\u20131900","journal-title":"J Am Coll Cardiol"},{"key":"9780_CR38","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1136\/hrt.22.2.236","volume":"22","author":"M Holt","year":"1960","unstructured":"Holt M, Oram S (1960) Familial heart disease with skeletal malformations. Br Heart J 22:236\u2013242","journal-title":"Br Heart J"},{"issue":"4","key":"9780_CR39","doi-asserted-by":"crossref","first-page":"e570","DOI":"10.1038\/cddis.2013.88","volume":"4","author":"A Horrillo","year":"2013","unstructured":"Horrillo A, Pezzolla D, Fraga MF, Aguilera Y, Salguero-Aranda C, Tejedo JR et al (2013) Zebularine regulates early stages of mESC differentiation: effect on cardiac commitment. Cell Death Dis 4(4):e570","journal-title":"Cell Death Dis"},{"issue":"9","key":"9780_CR40","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1038\/ng1416","volume":"36","author":"A Iafrate","year":"2004","unstructured":"Iafrate A et al (2004) Detection of large scale variation in the human genome. Nat Genet 36(9):949\u2013951","journal-title":"Nat Genet"},{"key":"9780_CR41","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/85845","volume":"27","author":"LA Jerome","year":"2001","unstructured":"Jerome LA, Papaioannou VWE (2001) DiGeorge syndrome phenotype in mice mutant for the T-Box gene, Tbx1. Nat Genet 27:286\u2013291","journal-title":"Nat Genet"},{"issue":"2","key":"9780_CR42","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/S0008-6363(01)00286-3","volume":"51","author":"R Junker","year":"2001","unstructured":"Junker R, Kotthoff S, Vielhaber H, Halimeh S, Kosch A, Koch HG et al (2001) Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease. Cardiovasc Res 51(2):251\u2013254","journal-title":"Cardiovasc Res"},{"key":"9780_CR43","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1161\/01.CIR.0000121361.01862.A4","volume":"109","author":"BM Kamath","year":"2004","unstructured":"Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA, Krantz ID (2004) Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation 109:1354\u20131358","journal-title":"Circulation"},{"key":"9780_CR44","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1086\/522890","volume":"81","author":"JD Karkera","year":"2007","unstructured":"Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M (2007) Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet 81:987\u2013994","journal-title":"Am J Hum Genet"},{"key":"9780_CR45","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1086\/519530","volume":"81","author":"EP Kirk","year":"2007","unstructured":"Kirk EP, Sunde M, Costa MW, Rankin SA, Wolstein O, Castro ML, Butler TL, Hyun C, Guo G, Otway R, Mackay JP, Waddell LB et al (2007) Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. Am J Hum Genet 81:280\u2013291","journal-title":"Am J Hum Genet"},{"key":"9780_CR46","doi-asserted-by":"publisher","first-page":"e550","DOI":"10.14800\/sce.550","volume":"2","author":"J Kobayashi","year":"2015","unstructured":"Kobayashi J, Sano S, Oh H (2015) Epigenetic modification in congenital heart diseases by using stem cell technologies. Stem Cell Epigenet 2:e550. doi: 10.14800\/sce.550","journal-title":"Stem Cell Epigenet"},{"key":"9780_CR47","doi-asserted-by":"crossref","first-page":"13933","DOI":"10.1073\/pnas.0904744106","volume":"106","author":"K Kodo","year":"2009","unstructured":"Kodo K, Nishizawa T, Furutani M, Arai S, Yamamura E, Joo K, Takahashi T, Matsuoka R, Yamagishi H (2009) GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proc Natl Acad Sci 106:13933\u201313938","journal-title":"Proc Natl Acad Sci"},{"issue":"2","key":"9780_CR48","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1002\/bdra.20630","volume":"88","author":"K Kuehl","year":"2010","unstructured":"Kuehl K, Loffredo C, Lammer EJ, Iovannisci DM, Shaw GM (2010) Association of congenital cardiovascular malformations with 33 single nucleotide polymorphisms of selected cardiovascular disease-related genes. Birth Defects Res A 88(2):101\u2013110","journal-title":"Birth Defects Res A"},{"key":"9780_CR49","doi-asserted-by":"crossref","first-page":"e94","DOI":"10.1136\/jmg.2003.017640","volume":"41","author":"SR Lalani","year":"2004","unstructured":"Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW (2004) SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet 41:e94","journal-title":"J Med Genet"},{"key":"9780_CR50","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/ejhg.2012.155","volume":"21","author":"SR Lalani","year":"2013","unstructured":"Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K et al (2013) Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet 21:173\u2013181","journal-title":"Eur J Hum Genet"},{"issue":"6","key":"9780_CR51","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1136\/jmg.2004.026443","volume":"42","author":"D Lambrechts","year":"2005","unstructured":"Lambrechts D, Devriendt K, Driscoll DA et al (2005) Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study. J Med Genet 42(6):519\u2013522","journal-title":"J Med Genet"},{"key":"9780_CR52","doi-asserted-by":"publisher","first-page":"730535","DOI":"10.1155\/2015\/730535","volume":"2015","author":"M Li","year":"2015","unstructured":"Li M, Zhang J (2015) Circulating MicroRNAs: potential and emerging biomarkers for diagnosis of cardiovascular and cerebrovascular diseases. Biomed Res Int 2015:730535. doi: 10.1155\/2015\/730535","journal-title":"Biomed Res Int"},{"issue":"7","key":"9780_CR53","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1093\/hmg\/6.7.1021","volume":"6","author":"DY Li","year":"1997","unstructured":"Li DY, Toland AE, Boak BB et al (1997) Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Hum Mol Genet 6(7):1021\u20131028","journal-title":"Hum Mol Genet"},{"key":"9780_CR54","doi-asserted-by":"crossref","first-page":"e106318","DOI":"10.1371\/journal.pone.0106318","volume":"9","author":"D Li","year":"2014","unstructured":"Li D, Ji L, Liu L et al (2014) Characterization of circulating microRNA expression in patients with a ventricular septal defect. PLoS ONE 9:e106318","journal-title":"PLoS ONE"},{"issue":"7013","key":"9780_CR55","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1038\/nature03071","volume":"432","author":"H Lickert","year":"2004","unstructured":"Lickert H, Takeuchi JK, Von Both I, Walls JR, McAuliffe F, Adamson SL, Henkelman RM, Wrana JL, Rossant J, Bruneau BG (2004) Baf60c is essential for function of BAF chromatin remodeling complexes in heart development. Nature 432(7013):107\u2013112","journal-title":"Nature"},{"key":"9780_CR56","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1038\/jhg.2010.84","volume":"55","author":"X Lin","year":"2010","unstructured":"Lin X, Huo Z, Liu X, Zhang Y, Li L, Zhao H, Yan B, Liu Y, Yang Y, Chen YH (2010) A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. J Hum Genet 55:662\u2013667","journal-title":"J Hum Genet"},{"issue":"2","key":"9780_CR57","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1017\/S1047951110001630","volume":"21","author":"T Loukanov","year":"2011","unstructured":"Loukanov T, Hoss K, Klimpel H, Arnold R, Sebening C, Karck M, Gorenflo M (2011) Endothelial nitric oxide synthase gene polymorphism (Glu298Asp) and acute pulmonary hypertension post cardiopulmonary bypass in children with congenital cardiac diseases. Cardiol Young 21(2):161\u2013169","journal-title":"Cardiol Young"},{"key":"9780_CR58","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1203\/PDR.0b013e3181ed17e4","volume":"68","author":"M Maitra","year":"2010","unstructured":"Maitra M, Koenig SN, Srivastava D, Garg V (2010) Identification of GATA6 sequence variants in patients with congenital heart defects. Pediat Res 68:281\u2013285","journal-title":"Pediat Res"},{"key":"9780_CR59","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1161\/CIRCGENETICS.114.000526","volume":"7","author":"LJ Martin","year":"2014","unstructured":"Martin LJ, Pilipenko V, Kaufman KM, Cripe L, Kottyan LC, Keddache M et al (2014) Whole exome sequencing for familial bicuspid aortic valve identifies putative variants. Circ Cardiovasc Genet 7:677\u2013683","journal-title":"Circ Cardiovasc Genet"},{"key":"9780_CR60","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1086\/505332","volume":"79","author":"R McDaniell","year":"2006","unstructured":"McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB (2006) NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the Notch signaling pathway. Am J Hum Genet 79:169\u2013173","journal-title":"Am J Hum Genet"},{"key":"9780_CR61","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1016\/j.jacc.2003.05.004","volume":"42","author":"DB McElhinney","year":"2003","unstructured":"McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E (2003) NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 42:1650\u20131655","journal-title":"J Am Coll Cardiol"},{"key":"9780_CR62","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1038\/ejhg.2009.181","volume":"18","author":"L Micale","year":"2010","unstructured":"Micale L, Turturo MG, Fusco C, Augello B, Jurado LAP, Izzi C, Digilio MC, Milani D, Lapi E, Zelante L, Merla G (2010) Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. Eur J Hum Genet 18:317\u2013323","journal-title":"Eur J Hum Genet"},{"issue":"7332","key":"9780_CR63","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nature09708","volume":"470","author":"RE Mills","year":"2011","unstructured":"Mills RE et al (2011) Mapping copy number variation by population scale genome sequencing. Nature 470(7332):59\u201365","journal-title":"Nature"},{"issue":"5","key":"9780_CR64","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1093\/hmg\/ddn411","volume":"18","author":"B Mohapatra","year":"2009","unstructured":"Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM (2009) Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet 18(5):861\u2013871","journal-title":"Hum Mol Genet"},{"key":"9780_CR65","doi-asserted-by":"crossref","first-page":"2843","DOI":"10.1161\/01.CIR.0000103684.77636.CD","volume":"108","author":"N Muncke","year":"2003","unstructured":"Muncke N, Jung C, Rudiger H, Ulmer H, Roeth R, Hubert A, Goldmuntz E, Driscoll D, Goodship J, Schon K, Rappold G (2003) Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Circulation 108:2843\u20132850","journal-title":"Circulation"},{"key":"9780_CR66","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/0735-1097(90)90644-5","volume":"15","author":"NN Musewe","year":"1990","unstructured":"Musewe NN, Alexander DJ, Teshima I et al (1990) Echocardiographic evaluation of the spectrum of cardiac anomalies associated with trisomy 13 and trisomy 18. J Am Coll Cardiol 15:673\u2013677","journal-title":"J Am Coll Cardiol"},{"key":"9780_CR67","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1038\/ng1749","volume":"38","author":"T Niihori","year":"2006","unstructured":"Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RCM, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K et al (2006) Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 38:294\u2013296","journal-title":"Nat Genet"},{"key":"9780_CR68","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/nature08086","volume":"460","author":"K Nimura","year":"2009","unstructured":"Nimura K, Ura K, Shiratori H, Ikawa M, Okabe M, Schwartz RJ et al (2009) A histone H3 lysine 36 trimethyltransferase links Nk2\u20135 to Wolf-Hirschhorn syndrome. Nature 460:287\u2013291","journal-title":"Nature"},{"issue":"8","key":"9780_CR69","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1038\/ng2073","volume":"39","author":"B Pandit","year":"2007","unstructured":"Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR et al (2007) Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 39(8):1007\u20131012","journal-title":"Nat Genet"},{"issue":"48","key":"9780_CR70","doi-asserted-by":"crossref","first-page":"20750","DOI":"10.1073\/pnas.1013493107","volume":"107","author":"CY Park","year":"2010","unstructured":"Park CY, Pierce SA, von Drehle M, Ivey KN, Morgan JA, Blau HM et al (2010) skNAC, a Smyd1-interacting transcription factor, is involved in cardiac development and skeletal muscle growth and regeneration. Pro Natl Acad Sci USA 107(48):20750\u201320755","journal-title":"Pro Natl Acad Sci USA"},{"issue":"11\u201312","key":"9780_CR71","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1007\/s10709-010-9522-4","volume":"138","author":"T Peng","year":"2010","unstructured":"Peng T, Wang L, Zhou SF, Li X (2010) Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. Genetica 138(11\u201312):1231\u20131240","journal-title":"Genetica"},{"key":"9780_CR72","doi-asserted-by":"crossref","first-page":"3015","DOI":"10.1161\/CIRCULATIONAHA.106.183056","volume":"115","author":"ME Pierpoint","year":"2007","unstructured":"Pierpoint ME, Basson CT, Benson DW Jr, Gelb BC, Giglia TM, Goldmuntz E, McGee G, Sable CA, Srivastava D, Webb CL (2007) AHA scientific statement. Genetic basis for congenital heart defects: current knowledge. A scientific statement from the American Heart Association Congenital Cardiac Defects Committe, Council on Cardiovascular Disease in the young: endorsed by the american academy of pediatrics. Circulation 115:3015\u20133038","journal-title":"Circulation"},{"key":"9780_CR73","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1002\/humu.10261","volume":"22","author":"A Pizzuti","year":"2003","unstructured":"Pizzuti A, Sarkozy A, Newton AL, Conti E, Flex E, Digilio MC, Amati F, Gianni D, Tandoi C, Marino B, Crossley M, Dallapiccola B (2003) Mutations of ZFPM2\/FOG2 gene in sporadic cases of tetralogy of Fallot. Hum Mutat 22:372\u2013377","journal-title":"Hum Mutat"},{"key":"9780_CR74","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/jhg.2015.98","volume":"61","author":"AV Postma","year":"2016","unstructured":"Postma AV, Bezzina CR, Christoffels VM (2016) Genetics of congenital heart disease: the contribution of the noncoding regulatory genome. J Hum Genet 61:13\u201319","journal-title":"J Hum Genet"},{"key":"9780_CR75","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.ajhg.2012.08.017","volume":"91","author":"SK Rajagopal","year":"2012","unstructured":"Rajagopal SK, Ma Q, Obler D, Shen J, Manichaikul A, Tomita-Mitchell A, Boardman K, Briggs C et al (2012) An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. Am J Hum Genet 91:646\u2013659","journal-title":"Am J Hum Genet"},{"key":"9780_CR76","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1136\/jmg.2009.070391","volume":"47","author":"R Rauch","year":"2010","unstructured":"Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A (2010) Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. J Med Genet 47:321\u2013331","journal-title":"J Med Genet"},{"issue":"7118","key":"9780_CR77","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/nature05329","volume":"444","author":"R Redon","year":"2006","unstructured":"Redon R, Ishikawa S, Fitch KR et al (2006) Global variation in copy number in the human genome. Nature 444(7118):444\u2013454","journal-title":"Nature"},{"key":"9780_CR78","doi-asserted-by":"crossref","first-page":"91","DOI":"10.2174\/157340310791162703","volume":"6","author":"AA Richards","year":"2010","unstructured":"Richards AA, Garg V (2010) Genetics of congenital heart disease. Curr Card Rev 6:91\u201397","journal-title":"Curr Card Rev"},{"key":"9780_CR79","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/ng1926","volume":"39","author":"AE Roberts","year":"2007","unstructured":"Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS (2007) Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 39:70\u201374","journal-title":"Nat Genet"},{"key":"9780_CR80","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1038\/nmeth1068","volume":"4","author":"G Robertson","year":"2007","unstructured":"Robertson G, Hirst M, Bainbridge M, Bilenky M, Zhao Y, Zeng T et al (2007) Genome-wide profiles of STAT1 DNA association using chromatin immunoprecipitation and massively parallel sequencing. Nat Methods 4:651\u2013657","journal-title":"Nat Methods"},{"key":"9780_CR81","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.pediatrneurol.2012.04.014","volume":"47","author":"R Rocha","year":"2012","unstructured":"Rocha R, Soro I, Leitao A, Silva ML, Leao M (2012) Moyamoya vascular pattern in Alagille syndrome. Pediat Neurol 47:125\u2013128","journal-title":"Pediat Neurol"},{"key":"9780_CR82","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1126\/science.1124642","volume":"311","author":"P Rodriguez-Viciana","year":"2006","unstructured":"Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Santa Cruz M, McCormick F, Rauen KA (2006) Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311:1287\u20131290","journal-title":"Science"},{"key":"9780_CR83","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1542\/peds.2009-3207","volume":"126","author":"AA Romano","year":"2010","unstructured":"Romano AA, Allanson JE, Dahlgren J et al (2010) Noonan syndrome: clinical features, diagnosis, and management guideline. Pediatrics 126:746\u2013759","journal-title":"Pediatrics"},{"issue":"5","key":"9780_CR84","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1067\/mva.2000.104589","volume":"31","author":"JI Rossaak","year":"2000","unstructured":"Rossaak JI, Van Rij AM, Jones GT, Harris EL (2000) Association of the 4G\/5G polymorphism in the promoter region of plasminogen activator inhibitor-1 with abdominal aortic aneurysms. J Vasc Surg 31(5):1026\u20131032","journal-title":"J Vasc Surg"},{"key":"9780_CR85","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1136\/jmg.34.10.798","volume":"34","author":"AK Ryan","year":"1997","unstructured":"Ryan AK, Goodship JA, Wilson DI et al (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798\u2013804","journal-title":"J Med Genet"},{"key":"9780_CR86","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1002\/humu.20955","volume":"30","author":"A Sarkozy","year":"2009","unstructured":"Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML et al (2009) Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat 30:695\u2013702","journal-title":"Hum Mutat"},{"key":"9780_CR87","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1126\/science.281.5373.108","volume":"281","author":"JJ Schott","year":"1998","unstructured":"Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron BJ, Seidman CE, Seidman JG (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 281:108\u2013111","journal-title":"Science"},{"key":"9780_CR88","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1038\/ng1748","volume":"38","author":"S Schubbert","year":"2006","unstructured":"Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KYJ, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP (2006) Germline KRAS mutations cause Noonan syndrome. Nat Genet 38:331\u2013336","journal-title":"Nat Genet"},{"key":"9780_CR89","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1111\/j.1399-0004.2007.00931.x","volume":"73","author":"AL Schulz","year":"2008","unstructured":"Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hubner CA, Korenke GC, Konig R, Kress W et al (2008) Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clin Genet 73:62\u201370","journal-title":"Clin Genet"},{"issue":"5683","key":"9780_CR90","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1126\/science.1098918","volume":"305","author":"J Sebat","year":"2004","unstructured":"Sebat J et al (2004) Large-scale copy number polymorphism in the human genome. Science 305(5683):525\u2013528","journal-title":"Science"},{"issue":"2","key":"9780_CR91","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1080\/15592294.2014.998536","volume":"10","author":"C Serra-Juhe","year":"2015","unstructured":"Serra-Juhe C, Cusco I, Homs A, Flores R, Toran N, Perez-Jurado LA (2015) DNA methylation abnormalities in congenital heart disease. Epigenetics 10(2):167\u2013177. doi: 10.1080\/15592294.2014.998536","journal-title":"Epigenetics"},{"issue":"1","key":"9780_CR92","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1002\/ajmg.a.30924","volume":"138","author":"GM Shaw","year":"2005","unstructured":"Shaw GM, Iovannisci DM, Yang W, Finnell RH, Carmichael SL, Cheng S et al (2005) Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes. Am J Med Genet A 138(1):21\u201326","journal-title":"Am J Med Genet A"},{"key":"9780_CR93","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1002\/(SICI)1096-8628(19961016)65:2<128::AID-AJMG9>3.0.CO;2-O","volume":"65","author":"LJ Sletten","year":"1996","unstructured":"Sletten LJ, Pierpont MEM (1996) Variation in severity of cardiac disease in Holt\u2013Oram syndrome. Am J Med Genet 65:128\u2013132","journal-title":"Am J Med Genet"},{"issue":"21","key":"9780_CR94","doi-asserted-by":"publisher","first-page":"333","DOI":"10.3978\/j.issn.2305-5839.2015.12.25","volume":"3","author":"T Smith","year":"2015","unstructured":"Smith T, Rajakaruna C, Caputo M, Emanueli C (2015) MicroRNAs in congenital heart disease. Ann Transl Med 3(21):333. doi: 10.3978\/j.issn.2305-5839.2015.12.25","journal-title":"Ann Transl Med"},{"key":"9780_CR95","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 et al (2012) Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet 91:489\u2013501","journal-title":"Am J Hum Genet"},{"issue":"4","key":"9780_CR96","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1002\/ajmg.a.35214","volume":"158A","author":"KM Sorensen","year":"2012","unstructured":"Sorensen KM, El-Segaler M, Fernlund E, Errami A, Bouvagnet P, Nehme N et al (2012) Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients. Am J Med Genet 158A(4):720\u2013725","journal-title":"Am J Med Genet"},{"issue":"12","key":"9780_CR97","doi-asserted-by":"crossref","first-page":"3062","DOI":"10.1002\/ajmg.a.37355","volume":"167","author":"A Springett","year":"2015","unstructured":"Springett A, Wellesley D, Greenlees R, Loane M, Addor MC, Arriola L, Bergman J, Cavero-Carbonell C et al (2015) Congenital anomalies associated with trisomy 18 or trisomy 13: a register-based study in 16 European countries, 2000\u20132001. Am J Med Genet A 167(12):3062\u20133069","journal-title":"Am J Med Genet A"},{"key":"9780_CR777","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1111\/j.1399-0004.2010.01422.x","volume":"78","author":"B Stallmeyer","year":"2010","unstructured":"Stallmeyer B, Fenge H, Nowak-Gottl U, Schulze-Bahr E (2010) Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. Clin Genet 78:533\u2013540","journal-title":"Clin Genet"},{"key":"9780_CR98","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1146\/annurev-med-100708-204735","volume":"61","author":"P Stankiewicz","year":"2010","unstructured":"Stankiewicz P, Lupski JR (2010) Structural variation in the human genome and its role in disease. Ann Rev Med 61:437\u2013455","journal-title":"Ann Rev Med"},{"issue":"6004","key":"9780_CR99","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1126\/science.1197005","volume":"330","author":"PH Sudmant","year":"2010","unstructured":"Sudmant PH et al (2010) Diversity of human copy number variation and multycopy genes. Science 330(6004):641\u2013646","journal-title":"Science"},{"key":"9780_CR100","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1056\/NEJMra030360","volume":"351","author":"VP Sybert","year":"2004","unstructured":"Sybert VP, McCauley E (2004) Turner\u2019s syndrome. N Engl J Med 351:1227\u20131238","journal-title":"N Engl J Med"},{"key":"9780_CR101","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1038\/ncomms1187","volume":"2","author":"JK Takeuchi","year":"2011","unstructured":"Takeuchi JK, Lou X, Alexander JM, Sugizaki H, Delgado-Olguin P, Holloway AK et al (2011) Chromatin remodelling complex dosage modulates transcription factor function in heart development. Nat Commun 2:187","journal-title":"Nat Commun"},{"key":"9780_CR102","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1038\/ng772","volume":"29","author":"M Tartaglia","year":"2001","unstructured":"Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patt MA, Kucherlapati RS, Gelb BD (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465\u2013468","journal-title":"Nat Genet"},{"key":"9780_CR103","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1136\/jmedgenet-2013-102100","volume":"51","author":"A Ta-Shma","year":"2014","unstructured":"Ta-Shma A, El-lahham N, Edvardson S, Stepensky P, Nir A, Perles Z, Gavri S, Golender J, Yaakobi-Simhayoff N, Shaag A, Rein AJJT, Elpeleg O (2014) Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation. J Med Genet 51:268\u2013270","journal-title":"J Med Genet"},{"key":"9780_CR104","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1136\/jmg.2007.052183","volume":"44","author":"A Tomita-Mitchell","year":"2007","unstructured":"Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Goldmuntz E (2007) GATA4 sequence variants in patients with congenital heart defects. J Med Genet 44:779\u2013783","journal-title":"J Med Genet"},{"key":"9780_CR105","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 (2012) Human gene copy number spectra analysis in congenital heart malformations. Physiol Genom 44:518\u2013541","journal-title":"Physiol Genom"},{"issue":"12","key":"9780_CR106","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1093\/qjmed\/hcm094","volume":"100","author":"IM Beynum Van","year":"2007","unstructured":"Van Beynum IM, den Heijer M, Blom HJ, Kapusta L (2007) The MTHFR 677C->\u00a0T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis. Q J Med 100(12):743\u2013753","journal-title":"Q J Med"},{"issue":"10","key":"9780_CR107","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1515\/CCLM.2008.271","volume":"46","author":"IM Beynum Van","year":"2008","unstructured":"Van Beynum IM, Mooji C, Kapusta L, Heil S, den Heijer M, Blom HJ (2008) Common 894G\u00a0>\u00a0T single nucleotide polymorphism in the gene coding for endothelial nitric oxide synthase (eNOS) and risk of congenital heart defects. Clin Chem Lab Med 46(10):1369\u20131375","journal-title":"Clin Chem Lab Med"},{"issue":"7","key":"9780_CR108","doi-asserted-by":"crossref","first-page":"1586","DOI":"10.1016\/0735-1097(89)90353-7","volume":"13","author":"S Praagh Van","year":"1989","unstructured":"Van Praagh S, Truman T, Firpo A, Bang-Rodrigo A, Fried R, McManus B, Engle MA, Van Praagh R (1989) Cardiac malformations in trisomy-18: a study of 41 postmortem cases. JACC 13(7):1586\u20131597","journal-title":"JACC"},{"issue":"3","key":"9780_CR109","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.devcel.2016.01.009","volume":"36","author":"L Waldron","year":"2016","unstructured":"Waldron L, Steimle JD, Greco TM, Gomez NC, Dorr KM, Kweon J, Temple B et al (2016) The cardiac TBX% interactome reveals a chromatin remodeling network essential for cardiac septation. Dev Cell 36(3):262\u2013275","journal-title":"Dev Cell"},{"key":"9780_CR110","doi-asserted-by":"publisher","first-page":"369","DOI":"10.3892\/ijmm.2010.585","volume":"27","author":"J Wang","year":"2011","unstructured":"Wang J, Xin YF, Liu XY, Liu ZM, Wang XZ, Yang YQ (2011) A novel NKX2-5 mutation in familial ventricular septal defect. Int J Mol Med 27:369\u2013375. doi: 10.3892\/ijmm.2010.585","journal-title":"Int J Mol Med"},{"key":"9780_CR111","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.mgene.2013.09.009","volume":"1","author":"W Wang","year":"2013","unstructured":"Wang W, Hou Z, Wang C, Wei C, Li Y, Jiang L (2013) Association between 5,10- methylenetetrahydrofolate reductase (MTHFR) polymorphisms and congenital heart disease: a meta-analysis. Meta Gene 1:109\u2013125","journal-title":"Meta Gene"},{"key":"9780_CR112","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1002\/dvdy.20719","volume":"235","author":"SM Ware","year":"2006","unstructured":"Ware SM, Harutyunyan KG, Belmont JW (2006) Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway. Dev Dyn 235:1631\u20131637","journal-title":"Dev Dyn"},{"issue":"12","key":"9780_CR113","doi-asserted-by":"crossref","first-page":"1246","DOI":"10.1038\/sj.ejhg.5201890","volume":"15","author":"J Xie","year":"2007","unstructured":"Xie J, Yi L, Xu ZF et al (2007) VEGF C-634G polymorphism is associated with protection from isolated ventricular septal defect: case-control and TDT studies. Eur J Hum Genet 15(12):1246\u20131251","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"9780_CR114","doi-asserted-by":"crossref","first-page":"85","DOI":"10.5847\/wjem.j.1920-8642.2016.02.001","volume":"7","author":"W Xie","year":"2016","unstructured":"Xie W, Zhou L, Chen Y, Ni B (2016) Circulating microRNAs as potential biomarkers for diagnosis of congenital heart defects. World J Emerg Med 7(2):85\u201389","journal-title":"World J Emerg Med"},{"key":"9780_CR115","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.jtcvs.2011.10.097","volume":"144","author":"B Yanagawa","year":"2012","unstructured":"Yanagawa B, Lovren F, Pan Y et al (2012) miRNA-141 is a novel regulator of BMP-2-mediated calcification in aortic stenosis. J Thorac Cardiovasc Surg 144:256\u2013262","journal-title":"J Thorac Cardiovasc Surg"},{"key":"9780_CR116","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 (2013) De novo mutations in histone-modifying genes in congenital heart disease. Nature 498:220\u2013223","journal-title":"Nature"},{"key":"9780_CR117","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.ejmg.2008.06.005","volume":"51","author":"W Zhang","year":"2008","unstructured":"Zhang W, Li X, Shen A, Jiao W, Guan X, Li Z (2008) GATA4 mutations in 486 Chinese patients with congenital heart disease. Eur J Med Genet 51:527\u2013535","journal-title":"Eur J Med Genet"},{"key":"9780_CR118","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1038\/nature03817","volume":"436","author":"Y Zhao","year":"2005","unstructured":"Zhao Y, Samal E, Srivastava D (2005) Serum response factor regulates a muscle-specific microRNA that targets Hand2 during cardiogenesis. Nature 436:214\u2013220. doi: 10.1038\/nature03817","journal-title":"Nature"},{"key":"9780_CR119","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.cca.2013.05.010","volume":"424","author":"S Zhu","year":"2013","unstructured":"Zhu S, Cao L, Zhu J et al (2013) Identification of maternal serum microRNAs as novel non-invasive biomarkers for prenatal detection of fetal congenital heart defects. Clin Chim Acta 424:66\u201372","journal-title":"Clin Chim Acta"}],"container-title":["Biochemical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10528-016-9780-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10528-016-9780-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10528-016-9780-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,20]],"date-time":"2024-06-20T05:21:33Z","timestamp":1718860893000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10528-016-9780-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11,2]]},"references-count":121,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["9780"],"URL":"https:\/\/doi.org\/10.1007\/s10528-016-9780-7","relation":{},"ISSN":["0006-2928","1573-4927"],"issn-type":[{"value":"0006-2928","type":"print"},{"value":"1573-4927","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11,2]]}}}