{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T23:58:46Z","timestamp":1777420726965,"version":"3.51.4"},"reference-count":81,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2016,12,10]],"date-time":"2016-12-10T00:00:00Z","timestamp":1481328000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001809","name":"The National Natural Science Fund of China","doi-asserted-by":"crossref","award":["81470372"],"award-info":[{"award-number":["81470372"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"The National Natural Science Fund of China","doi-asserted-by":"crossref","award":["81271927"],"award-info":[{"award-number":["81271927"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"The National Natural Science Fund of China","doi-asserted-by":"crossref","award":["81270161"],"award-info":[{"award-number":["81270161"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"The Key Program for Basic Research of Shanghai, China","award":["14JC1405500"],"award-info":[{"award-number":["14JC1405500"]}]},{"name":"The Major Program of Shanghai Chest Hospital","award":["2014YZDH10102"],"award-info":[{"award-number":["2014YZDH10102"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Cardiol"],"published-print":{"date-parts":[[2017,3]]},"DOI":"10.1007\/s00246-016-1547-8","type":"journal-article","created":{"date-parts":[[2016,12,10]],"date-time":"2016-12-10T06:51:48Z","timestamp":1481352708000},"page":"547-557","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot"],"prefix":"10.1007","volume":"38","author":[{"given":"Juan","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Qing","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Han","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian-Yun","family":"Gu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia-Hong","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan-Jie","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ning","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Xiao","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Qing","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,12,10]]},"reference":[{"key":"1547_CR1","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":"1547_CR2","doi-asserted-by":"crossref","first-page":"e29","DOI":"10.1161\/CIR.0000000000000152","volume":"131","author":"D Mozaffarian","year":"2015","unstructured":"Mozaffarian D, Benjamin EJ, Go AS, Arnett DK, Blaha MJ, Cushman M, de Ferranti S, Despr\u00e9s JP, Fullerton HJ, Howard VJ, Huffman MD, Judd SE, Kissela BM, Lackland DT, Lichtman JH, Lisabeth LD, Liu S, Mackey RH, Matchar DB, McGuire DK, Mohler ER 3rd, Moy CS, Muntner P, Mussolino ME, Nasir K, Neumar RW, Nichol G, Palaniappan L, Pandey DK, Reeves MJ, Rodriguez CJ, Sorlie PD, Stein J, Towfighi A, Turan TN, Virani SS, Willey JZ, Woo D, Yeh RW, Turner MB, American Heart Association Statistics Committee and Stroke Statistics Subcommittee (2015) Heart disease and stroke statistics\u20132015 update: a report from the American Heart Association. Circulation 131:e29\u2013e322","journal-title":"Circulation"},{"key":"1547_CR3","first-page":"743","volume":"386","author":"Global Burden of Disease Study","year":"2013","unstructured":"Global Burden of Disease Study (2013) Collaborators (2015) Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990\u20132013: a systematic analysis for the Global Burden of Disease Study 2013. Lancet 386:743\u2013800","journal-title":"Lancet"},{"key":"1547_CR4","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1007\/s00246-015-1201-x","volume":"36","author":"P Amedro","year":"2015","unstructured":"Amedro P, Dorka R, Moniotte S, Guillaumont S, Fraisse A, Kreitmann B, Borm B, Bertet H, Barrea C, Ovaert C, Sluysmans T, De La Villeon G, Vincenti M, Voisin M, Auquier P, Picot MC (2015) Quality of life of children with congenital heart diseases: a multicenter controlled cross-sectional study. Pediatr Cardiol 36:1588\u20131601","journal-title":"Pediatr Cardiol"},{"key":"1547_CR5","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1093\/eurheartj\/ehv523","volume":"37","author":"GP Diller","year":"2016","unstructured":"Diller GP, Baumgartner H (2016) Sudden cardiac death during exercise in patients with congenital heart disease: the exercise paradox and the challenge of appropriate counseling. Eur Heart J 37:627\u2013629","journal-title":"Eur Heart J"},{"key":"1547_CR6","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1007\/s00246-015-1129-1","volume":"36","author":"G Feltez","year":"2015","unstructured":"Feltez G, Coronel CC, Pellanda LC, Lukrafka JL (2015) Exercise capacity in children and adolescents with corrected congenital heart disease. Pediatr Cardiol 36:1075\u20131082","journal-title":"Pediatr Cardiol"},{"key":"1547_CR7","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1093\/eurheartj\/ehv317","volume":"37","author":"N Gali\u00e8","year":"2016","unstructured":"Gali\u00e8 N, Humbert M, Vachiery JL, Gibbs S, Lang I, Torbicki A, Simonneau G, Peacock A, Vonk Noordegraaf A, Beghetti M, Ghofrani A, Gomez Sanchez MA, Hansmann G, Klepetko W, Lancellotti P, Matucci M, McDonagh T, Pierard LA, Trindade PT, Zompatori M, Hoeper M, Aboyans V, Vaz Carneiro A, Achenbach S, Agewall S, Allanore Y, Asteggiano R, Paolo Badano L, Albert Barber\u00e0 J, Bouvaist H, Bueno H, Byrne RA, Carerj S, Castro G, Erol \u00c7, Falk V, Funck-Brentano C, Gorenflo M, Granton J, Iung B, Kiely DG, Kirchhof P, Kjellstrom B, Landmesser U, Lekakis J, Lionis C, Lip GY, Orfanos SE, Park MH, Piepoli MF, Ponikowski P, Revel MP, Rigau D, Rosenkranz S, V\u00f6ller H, Luis Zamorano J (2016) 2015 ESC\/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: the joint task force for the diagnosis and treatment of pulmonary hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT). Eur Heart J 37:67\u2013119","journal-title":"Eur Heart J"},{"key":"1547_CR8","doi-asserted-by":"crossref","first-page":"1951","DOI":"10.1161\/CIRCULATIONAHA.115.019881","volume":"133","author":"A Marelli","year":"2016","unstructured":"Marelli A, Miller SP, Marino BS, Jefferson AL, Newburger JW (2016) Brain in congenital heart disease across the lifespan: the cumulative burden of injury. Circulation 133:1951\u20131962","journal-title":"Circulation"},{"key":"1547_CR9","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.ijcard.2014.06.008","volume":"175","author":"J M\u00fcller","year":"2014","unstructured":"M\u00fcller J, Berner A, Ewert P, Hager A (2014) Reduced health-related quality of life in older patients with congenital heart disease: a cross sectional study in 2360 patients. Int J Cardiol 175:358\u2013362","journal-title":"Int J Cardiol"},{"key":"1547_CR10","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.ijcard.2014.03.002","volume":"173","author":"J M\u00fcller","year":"2014","unstructured":"M\u00fcller J, Engelhardt A, Fratz S, Eicken A, Ewert P, Hager A (2014) Improved exercise performance and quality of life after percutaneous pulmonary valve implantation. Int J Cardiol 173:388\u2013392","journal-title":"Int J Cardiol"},{"key":"1547_CR11","doi-asserted-by":"crossref","first-page":"2793","DOI":"10.1093\/eurheartj\/ehv316","volume":"36","author":"SG Priori","year":"2015","unstructured":"Priori SG, Blomstr\u00f6m-Lundqvist C, Mazzanti A, Blom N, Borggrefe M, Camm J, Elliott PM, Fitzsimons D, Hatala R, Hindricks G, Kirchhof P, Kjeldsen K, Kuck KH, Hernandez-Madrid A, Nikolaou N, Norekv\u00e5l TM, Spaulding C, Van Veldhuisen DJ, Authors\/Task Force Members, Document Reviewers (2015) 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: the task force for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death of the European Society of Cardiology (ESC) Endorsed by: association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J 36:2793\u20132867","journal-title":"Eur Heart J"},{"key":"1547_CR12","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1007\/s00246-015-1198-1","volume":"36","author":"O Rosenblum","year":"2015","unstructured":"Rosenblum O, Katz U, Reuveny R, Williams CA, Dubnov-Raz G (2015) Exercise performance in children and young adults after complete and incomplete repair of congenital\u00a0heart\u00a0disease. Pediatr Cardiol 36:1573\u20131581","journal-title":"Pediatr Cardiol"},{"key":"1547_CR13","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1161\/CIR.0000000000000352","volume":"133","author":"KK Stout","year":"2016","unstructured":"Stout KK, Broberg CS, Book WM, Cecchin F, Chen JM, Dimopoulos K, Everitt MD, Gatzoulis M, Harris L, Hsu DT, Kuvin JT, Law Y, Martin CM, Murphy AM, Ross HJ, Singh G, Spray TL, American Heart Association Council on Clinical Cardiology, Council on Functional Genomics and Translational Biology, and Council on Cardiovascular Radiology and Imaging (2016) Chronic heart failure in congenital heart disease: a scientific statement from the American Heart Association. Circulation 133:770\u2013801","journal-title":"Circulation"},{"key":"1547_CR14","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1161\/CIRCULATIONAHA.114.013051","volume":"131","author":"L Sun","year":"2015","unstructured":"Sun L, Macgowan CK, Sled JG, Yoo SJ, Manlhiot C, Porayette P, Grosse-Wortmann L, Jaeggi E, McCrindle BW, Kingdom J, Hickey E, Miller S, Seed M (2015) Reduced fetal cerebral oxygen consumption is associated with smaller brain size in fetuses with congenital heart disease. Circulation 131:1313\u20131323","journal-title":"Circulation"},{"key":"1547_CR15","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1007\/s00246-015-1132-6","volume":"36","author":"IA Williams","year":"2015","unstructured":"Williams IA, Fifer WP, Andrews H (2015) Fetal growth and neurodevelopmental outcome in\u00a0congenital\u00a0heart\u00a0disease. Pediatr Cardiol 36:1135\u20131144","journal-title":"Pediatr Cardiol"},{"key":"1547_CR16","doi-asserted-by":"crossref","first-page":"2095","DOI":"10.1016\/S0140-6736(12)61728-0","volume":"380","author":"R Lozano","year":"2012","unstructured":"Lozano R, Naghavi M, Foreman K, Lim S, Shibuya K, Aboyans V, Abraham J, Adair T, Aggarwal R, Ahn SY, Alvarado M, Anderson HR, Anderson LM, Andrews KG, Atkinson C, Baddour LM, Barker-Collo S, Bartels DH, Bell ML, Benjamin EJ, Bennett D, Bhalla K, Bikbov B, Bin Abdulhak A, Birbeck G, Blyth F, Bolliger I, Boufous S, Bucello C, Burch M, Burney P, Carapetis J, Chen H, Chou D, Chugh SS, Coffeng LE, Colan SD, Colquhoun S, Colson KE, Condon J, Connor MD, Cooper LT, Corriere M, Cortinovis M, de Vaccaro KC, Couser W, Cowie BC, Criqui MH, Cross M, Dabhadkar KC, Dahodwala N, De Leo D, Degenhardt L, Delossantos A, Denenberg J, Des Jarlais DC, Dharmaratne SD, Dorsey ER, Driscoll T, Duber H, Ebel B, Erwin PJ, Espindola P, Ezzati M, Feigin V, Flaxman AD, Forouzanfar MH, Fowkes FG, Franklin R, Fransen M, Freeman MK, Gabriel SE, Gakidou E, Gaspari F, Gillum RF, Gonzalez-Medina D, Halasa YA, Haring D, Harrison JE, Havmoeller R, Hay RJ, Hoen B, Hotez PJ, Hoy D, Jacobsen KH, James SL, Jasrasaria R, Jayaraman S, Johns N, Karthikeyan G, Kassebaum N, Keren A, Khoo JP, Knowlton LM, Kobusingye O, Koranteng A, Krishnamurthi R, Lipnick M, Lipshultz SE, Ohno SL, Mabweijano J, MacIntyre MF, Mallinger L, March L, Marks GB, Marks R, Matsumori A, Matzopoulos R, Mayosi BM, McAnulty JH, McDermott MM, McGrath J, Mensah GA, Merriman TR, Michaud C, Miller M, Miller TR, Mock C, Mocumbi AO, Mokdad AA, Moran A, Mulholland K, Nair MN, Naldi L, Narayan KM, Nasseri K, Norman P, O\u2019Donnell M, Omer SB, Ortblad K, Osborne R, Ozgediz D, Pahari B, Pandian JD, Rivero AP, Padilla RP, Perez-Ruiz F, Perico N, Phillips D, Pierce K, Pope CA 3rd, Porrini E, Pourmalek F, Raju M, Ranganathan D, Rehm JT, Rein DB, Remuzzi G, Rivara FP, Roberts T, De Le\u00f3n FR, Rosenfeld LC, Rushton L, Sacco RL, Salomon JA, Sampson U, Sanman E, Schwebel DC, Segui-Gomez M, Shepard DS, Singh D, Singleton J, Sliwa K, Smith E, Steer A, Taylor JA, Thomas B, Tleyjeh IM, Towbin JA, Truelsen T, Undurraga EA, Venketasubramanian N, Vijayakumar L, Vos T, Wagner GR, Wang M, Wang W, Watt K, Weinstock MA, Weintraub R, Wilkinson JD, Woolf AD, Wulf S, Yeh PH, Yip P, Zabetian A, Zheng ZJ, Lopez AD, Murray CJ, AlMazroa MA, Memish ZA (2012) Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the global burden of disease study 2010. Lancet 380:2095\u20132128","journal-title":"Lancet"},{"key":"1547_CR17","doi-asserted-by":"crossref","first-page":"1956","DOI":"10.1016\/j.jacc.2016.01.062","volume":"67","author":"M Gurvitz","year":"2016","unstructured":"Gurvitz M, Burns KM, Brindis R, Broberg CS, Daniels CJ, Fuller SM, Honein MA, Khairy P, Kuehl KS, Landzberg MJ, Mahle WT, Mann DL, Marelli A, Newburger JW, Pearson GD, Starling RC, Tringali GR, Valente AM, Wu JC, Califf RM (2016) Emerging research directions in\u00a0adult\u00a0congenital\u00a0heart\u00a0disease: a report from an NHLBI\/ACHA Working Group. J Am Coll Cardiol 67:1956\u20131964","journal-title":"J Am Coll Cardiol"},{"key":"1547_CR18","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1097\/MOP.0000000000000270","volume":"27","author":"K Niwa","year":"2015","unstructured":"Niwa K (2015) Adults with congenital heart disease transition. Curr Opin Pediatr 27:576\u2013580","journal-title":"Curr Opin Pediatr"},{"key":"1547_CR19","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1093\/eurheartj\/eht257","volume":"35","author":"O Tutarel","year":"2014","unstructured":"Tutarel O, Kempny A, Alonso-Gonzalez R, Jabbour R, Li W, Uebing A, Dimopoulos K, Swan L, Gatzoulis MA, Diller GP (2014) Congenital heart disease beyond the age of 60: emergence of a new population with high resource utilization, high morbidity, and high mortality. Eur Heart J 35:725\u2013732","journal-title":"Eur Heart J"},{"key":"1547_CR20","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1038\/nrcardio.2010.166","volume":"8","author":"T Bom van der","year":"2011","unstructured":"van der Bom T, Zomer AC, Zwinderman AH, Meijboom FJ, Bouma BJ, Mulder BJ (2011) The changing epidemiology of congenital heart disease. Nat Rev Cardiol 8:50\u201360","journal-title":"Nat Rev Cardiol"},{"key":"1547_CR21","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1016\/j.amjcard.2016.05.056","volume":"118","author":"DA Briston","year":"2016","unstructured":"Briston DA, Bradley EA, Sabanayagam A, Zaidi AN (2016) Health care costs for adults with congenital heart disease in the United States 2002 to 2012. Am J Cardiol 118:590\u2013596","journal-title":"Am J Cardiol"},{"key":"1547_CR22","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1016\/j.amjcard.2016.03.016","volume":"117","author":"AM Cedars","year":"2016","unstructured":"Cedars AM, Burns S, Novak EL, Amin AP (2016) Lesion-specific factors contributing to inhospital costs in adults with congenital heart disease. Am J Cardiol 117:1821\u20131825","journal-title":"Am J Cardiol"},{"key":"1547_CR23","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1016\/j.jacc.2015.12.043","volume":"67","author":"AM Cedars","year":"2016","unstructured":"Cedars AM, Burns S, Novak EL, Amin AP (2016) Rehospitalization is a major determinant of inpatient care costs in adult congenital heart disease. J Am Coll Cardiol 67:1254\u20131255","journal-title":"J Am Coll Cardiol"},{"key":"1547_CR24","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/s00246-015-1235-0","volume":"37","author":"D Faraoni","year":"2016","unstructured":"Faraoni D, Nasr VG, DiNardo JA (2016) Overall hospital cost estimates in children with congenital heart disease: analysis of the 2012 kid\u2019s inpatient database. Pediatr Cardiol 37:37\u201343","journal-title":"Pediatr Cardiol"},{"key":"1547_CR25","doi-asserted-by":"crossref","first-page":"1756","DOI":"10.1016\/j.amjcard.2015.09.008","volume":"116","author":"MD Seckeler","year":"2015","unstructured":"Seckeler MD, Moe TG, Thomas ID, Meziab O, Andrews J, Heller E, Klewer SE (2015) Hospital resource utilization for common noncardiac diagnoses in adult survivors of single cardiac ventricle. Am J Cardiol 116:1756\u20131761","journal-title":"Am J Cardiol"},{"key":"1547_CR26","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s00246-014-1079-z","volume":"36","author":"Y Feng","year":"2015","unstructured":"Feng Y, Wang S, Zhao L, Yu D, Hu L, Mo X (2015) Maternal reproductive history and the risk of congenital heart defects in offspring: a systematic review and meta-analysis. Pediatr Cardiol 36:253\u2013263","journal-title":"Pediatr Cardiol"},{"key":"1547_CR27","doi-asserted-by":"crossref","first-page":"2995","DOI":"10.1161\/CIRCULATIONAHA.106.183216","volume":"115","author":"KJ Jenkins","year":"2007","unstructured":"Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, Elixson M, Warnes CA, Webb CL, American Heart Association Council on Cardiovascular Disease in the Young (2007) Noninherited\u00a0risk factors\u00a0and\u00a0congenital\u00a0cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 115:2995\u20133014","journal-title":"Circulation"},{"key":"1547_CR28","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1007\/s00246-015-1182-9","volume":"36","author":"A Ramakrishnan","year":"2015","unstructured":"Ramakrishnan A, Lee LJ, Mitchell LE, Agopian AJ (2015) Maternal hypertension during pregnancy and the risk of congenital heart defects in offspring: a systematic review and meta-analysis. Pediatr Cardiol 36:1442\u20131451","journal-title":"Pediatr Cardiol"},{"key":"1547_CR29","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1007\/s00246-015-1116-6","volume":"36","author":"C Wang","year":"2015","unstructured":"Wang C, Zhan Y, Wang F, Li H, Xie L, Liu B, Li Y, Mu D, Zheng H, Zhou K, Hua Y (2015) Parental occupational exposures to endocrine disruptors and the risk of simple isolated congenital heart defects. Pediatr Cardiol 36:1024\u20131037","journal-title":"Pediatr Cardiol"},{"key":"1547_CR30","doi-asserted-by":"crossref","first-page":"8848","DOI":"10.1038\/srep08848","volume":"5","author":"OK Abou Hassan","year":"2015","unstructured":"Abou Hassan OK, Fahed AC, Batrawi M, Arabi M, Refaat MM, DePalma SR, Seidman JG, Seidman CE, Bitar FF, Nemer GM (2015) NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity. Sci Rep 5:8848","journal-title":"Sci Rep"},{"key":"1547_CR31","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1007\/s00018-013-1430-1","volume":"71","author":"TA Andersen","year":"2014","unstructured":"Andersen TA, Troelsen Kde L, Larsen LA (2014) Of mice and men: molecular genetics of congenital heart disease. Cell Mol Life Sci 71:1327\u20131352","journal-title":"Cell Mol Life Sci"},{"key":"1547_CR32","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1016\/j.ajhg.2016.03.030","volume":"98","author":"L Boyle","year":"2016","unstructured":"Boyle L, Wamelink MM, Salomons GS, Roos B, Pop A, Dauber A, Hwa V, Andrew M, Douglas J, Feingold M, Kramer N, Saitta S, Retterer K, Cho MT, Begtrup A, Monaghan KG, Wynn J, Chung WK (2016) Mutations in TKT are the cause of a syndrome including short stature, developmental delay, and congenital\u00a0heart\u00a0defects. Am J Hum Genet 98:1235\u20131242","journal-title":"Am J Hum Genet"},{"key":"1547_CR33","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.gene.2015.08.033","volume":"575","author":"Y Cao","year":"2016","unstructured":"Cao Y, Wang J, Wei C, Hou Z, Li Y, Zou H, Meng M, Wang W, Jiang L (2016) Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population. Gene 575:29\u201333","journal-title":"Gene"},{"key":"1547_CR34","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.gene.2015.09.021","volume":"575","author":"J Chen","year":"2016","unstructured":"Chen J, Qi B, Zhao J, Liu W, Duan R, Zhang M (2016) A novel\u00a0mutation\u00a0of GATA4 (K300T) associated with familial atrial septal defect. Gene 575:473\u2013477","journal-title":"Gene"},{"key":"1547_CR35","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/j.amjcard.2015.10.058","volume":"117","author":"N Dargis","year":"2016","unstructured":"Dargis N, Lamontagne M, Gaudreault N, Sbarra L, Henry C, Pibarot P, Mathieu P, Boss\u00e9 Y (2016) Identification of gender-specific genetic variants in patients with bicuspid aortic valve. Am J Cardiol 117:420\u2013426","journal-title":"Am J Cardiol"},{"key":"1547_CR36","doi-asserted-by":"crossref","first-page":"1602","DOI":"10.1007\/s00246-015-1202-9","volume":"36","author":"X Deng","year":"2015","unstructured":"Deng X, Pan H, Wang J, Wang B, Cheng Z, Cheng L, Zhao L, Li H, Ma X (2015) Functional analysis of two novel\u00a0mutations\u00a0in TWIST1 protein motifs found in ventricular septal defect patients. Pediatr Cardiol 36:1602\u20131609","journal-title":"Pediatr Cardiol"},{"key":"1547_CR37","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1038\/ng.3376","volume":"47","author":"A Guimier","year":"2015","unstructured":"Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschk\u00e9 P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT (2015) MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. Nat Genet 47:1260\u20131263","journal-title":"Nat Genet"},{"key":"1547_CR38","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1126\/science.aac9396","volume":"350","author":"J Homsy","year":"2015","unstructured":"Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA Jr, Kim R, Bilguvar K, L\u00f3pez-Gir\u00e1ldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK (2015) De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science 350:1262\u20131266","journal-title":"Science"},{"key":"1547_CR39","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1002\/mgg3.190","volume":"4","author":"K Kassab","year":"2015","unstructured":"Kassab K, Hariri H, Gharibeh L, Fahed AC, Zein M, El-Rassy I, Nemer M, El-Rassi I, Bitar F, Nemer G (2015) GATA5\u00a0mutation\u00a0homozygosity linked to a double outlet right ventricle phenotype in a lebanese patient. Mol Genet Genomic Med 4:160\u2013171","journal-title":"Mol Genet Genomic Med"},{"key":"1547_CR40","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1007\/s00246-015-1188-3","volume":"36","author":"T Koshy","year":"2015","unstructured":"Koshy T, Venkatesan V, Perumal V, Hegde S, Paul SF (2015) The A1298C methylenetetrahydrofolate reductase gene variant as a susceptibility gene for non-syndromic conotruncal\u00a0heart\u00a0defects in an Indian population. Pediatr Cardiol 36:1470\u20131475","journal-title":"Pediatr Cardiol"},{"key":"1547_CR41","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.3892\/mmr.2016.5428","volume":"14","author":"FF Li","year":"2016","unstructured":"Li FF, Deng X, Zhou J, Yan P, Zhao EY, Liu SL (2016) Characterization of human bone morphogenetic protein gene variants for possible roles in congenital heart disease. Mol Med Rep 14:1459\u20131464","journal-title":"Mol Med Rep"},{"key":"1547_CR42","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1016\/j.ajhg.2016.03.022","volume":"98","author":"N Li","year":"2016","unstructured":"Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Bahjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG, Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP, Mani A (2016) Mutations in the histone modifier PRDM6 are associated with isolated nonsyndromic patent ductus arteriosus. Am J Hum Genet 98:1082\u20131091","journal-title":"Am J Hum Genet"},{"key":"1547_CR43","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1007\/s00246-015-1172-y","volume":"36","author":"X Li","year":"2015","unstructured":"Li X, Wang G, An Y, Li H, Li Y, Wu C (2015) Association between sequence variations in RCAN1 promoter and the risk of sporadic\u00a0congenital heart\u00a0disease in a Chinese population. Pediatr Cardiol 36:1393\u20131399","journal-title":"Pediatr Cardiol"},{"key":"1547_CR44","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1038\/nature14269","volume":"521","author":"Y Li","year":"2015","unstructured":"Li Y, Klena NT, Gabriel GC, Liu X, Kim AJ, Lemke K, Chen Y, Chatterjee B, Devine W, Damerla RR, Chang C, Yagi H, San Agustin JT, Thahir M, Anderton S, Lawhead C, Vescovi A, Pratt H, Morgan J, Haynes L, Smith CL, Eppig JT, Reinholdt L, Francis R, Leatherbury L, Ganapathiraju MK, Tobita K, Pazour GJ, Lo CW (2015) Global genetic analysis in mice unveils central role for cilia in\u00a0congenital\u00a0heart disease. Nature 521:520\u2013524","journal-title":"Nature"},{"key":"1547_CR45","doi-asserted-by":"crossref","first-page":"445","DOI":"10.3892\/ijmm.2015.2436","volume":"37","author":"CX Lu","year":"2016","unstructured":"Lu CX, Gong HR, Liu XY, Wang J, Zhao CM, Huang RT, Xue S, Yang YQ (2016) A novel HAND2 loss-of-function\u00a0mutation\u00a0responsible for tetralogy of Fallot. Int J Mol Med 37:445\u2013451","journal-title":"Int J Mol Med"},{"key":"1547_CR46","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.3892\/ijmm.2015.2077","volume":"35","author":"Y Pan","year":"2015","unstructured":"Pan Y, Geng R, Zhou N, Zheng GF, Zhao H, Wang J, Zhao CM, Qiu XB, Yang YQ, Liu XY (2015) TBX20 loss-of-function\u00a0mutation\u00a0contributes to double outlet right ventricle. Int J Mol Med 35:1058\u20131066","journal-title":"Int J Mol Med"},{"key":"1547_CR47","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1007\/s00246-015-1173-x","volume":"36","author":"Y Pan","year":"2015","unstructured":"Pan Y, Wang ZG, Liu XY, Zhao H, Zhou N, Zheng GF, Qiu XB, Li RG, Yuan F, Shi HY, Hou XM, Yang YQ (2015) A novel TBX1 loss-of-function mutation associated with congenital heart disease. Pediatr Cardiol 36:1400\u20131410","journal-title":"Pediatr Cardiol"},{"key":"1547_CR48","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1007\/s00246-016-1404-9","volume":"37","author":"JJ Parent","year":"2016","unstructured":"Parent JJ, Towbin JA, Jefferies JL (2016) Fibrillin-1 gene mutations in left ventricular non-compaction cardiomyopathy. Pediatr Cardiol 37:1123\u20131126","journal-title":"Pediatr Cardiol"},{"key":"1547_CR49","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1007\/s00246-014-1001-8","volume":"36","author":"A Perrot","year":"2015","unstructured":"Perrot A, Schmitt KR, Roth EM, Stiller B, Posch MG, Browne EN, Timmann C, Horstmann RD, Berger F, \u00d6zcelik C (2015) CCN1\u00a0mutation\u00a0is associated with atrial septal defect. Pediatr Cardiol 36:295\u2013299","journal-title":"Pediatr Cardiol"},{"key":"1547_CR50","doi-asserted-by":"crossref","first-page":"1891","DOI":"10.1016\/j.amjcard.2014.09.028","volume":"114","author":"XK Qu","year":"2014","unstructured":"Qu XK, Qiu XB, Yuan F, Wang J, Zhao CM, Liu XY, Zhang XL, Li RG, Xu YJ, Hou XM, Fang WY, Liu X, Yang YQ (2014) A novel NKX2.5 loss-of-function\u00a0mutation\u00a0associated with\u00a0congenital\u00a0bicuspid aortic valve. Am J Cardiol 114:1891\u20131895","journal-title":"Am J Cardiol"},{"key":"1547_CR51","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1093\/hmg\/ddv004","volume":"24","author":"F Quintero-Rivera","year":"2015","unstructured":"Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, Kamp A, Moskowitz IP, Lacro RV, Lu W, Morton CC, Gusella JF, Maas RL (2015) MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Hum Mol Genet 24:2375\u20132389","journal-title":"Hum Mol Genet"},{"key":"1547_CR52","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.ajhg.2014.12.025","volume":"96","author":"SE Racedo","year":"2015","unstructured":"Racedo SE, McDonald-McGinn DM, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou B, Funke B, Morrow BE (2015) Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. Am J Hum Genet 96:235\u2013244","journal-title":"Am J Hum Genet"},{"key":"1547_CR53","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1002\/humu.22702","volume":"36","author":"M Sanchez-Castro","year":"2015","unstructured":"Sanchez-Castro M, Pichon O, Briand A, Poulain D, Gournay V, David A, Le Caignec C (2015) Disruption of the SEMA3D gene in a patient with\u00a0congenital\u00a0heart\u00a0defects. Hum Mutat 36:30\u201333","journal-title":"Hum Mutat"},{"key":"1547_CR54","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/j.ajhg.2016.02.010","volume":"98","author":"R Shaheen","year":"2016","unstructured":"Shaheen R, Anazi S, Ben-Omran T, Seidahmed MZ, Caddle LB, Palmer K, Ali R, Alshidi T, Hagos S, Goodwin L, Hashem M, Wakil SM, Abouelhoda M, Colak D, Murray SA, Alkuraya FS (2016) Mutations in SMG9, encoding an essential component of nonsense-mediated decay machinery, cause a multiple\u00a0congenital\u00a0anomaly syndrome in humans and mice. Am J Hum Genet 98:643\u2013652","journal-title":"Am J Hum Genet"},{"key":"1547_CR55","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1534\/g3.115.026518","volume":"6","author":"YM Sun","year":"2016","unstructured":"Sun YM, Wang J, Qiu XB, Yuan F, Li RG, Xu YJ, Qu XK, Shi HY, Hou XM, Huang RT, Xue S, Yang YQ (2016) A HAND2 loss-of-function\u00a0mutation\u00a0causes familial ventricular septal defect and pulmonary stenosis. G3 (Bethesda) 6:987\u2013992","journal-title":"G3 (Bethesda)"},{"key":"1547_CR56","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.gene.2015.12.001","volume":"577","author":"YM Sun","year":"2016","unstructured":"Sun YM, Wang J, Qiu XB, Yuan F, Xu YJ, Li RG, Qu XK, Huang RT, Xue S, Yang YQ (2016) PITX2 loss-of-function\u00a0mutation\u00a0contributes to tetralogy of fallot. Gene 577:258\u2013264","journal-title":"Gene"},{"key":"1547_CR57","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1161\/CIRCGENETICS.115.001070","volume":"8","author":"JL Theis","year":"2015","unstructured":"Theis JL, Zimmermann MT, Evans JM, Eckloff BW, Wieben ED, Qureshi MY, O\u2019Leary PW, Olson TM (2015) Recessive MYH6\u00a0mutations\u00a0in hypoplastic left\u00a0heart\u00a0with reduced ejection fraction. Circ Cardiovasc Genet 8:564\u2013571","journal-title":"Circ Cardiovasc Genet"},{"key":"1547_CR58","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1089\/dna.2012.1814","volume":"31","author":"J Wang","year":"2012","unstructured":"Wang J, Luo XJ, Xin YF, Liu Y, Liu ZM, Wang Q, Li RG, Fang WY, Wang XZ, Yang YQ (2012) Novel GATA6\u00a0mutations\u00a0associated with\u00a0congenital\u00a0ventricular septal defect or tetralogy of Fallot. DNA Cell Biol 31:1610\u20131617","journal-title":"DNA Cell Biol"},{"key":"1547_CR59","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1007\/s00246-014-1060-x","volume":"36","author":"J Wang","year":"2015","unstructured":"Wang J, Mao JH, Ding KK, Xu WJ, Liu XY, Qiu XB, Li RG, Qu XK, Xu YJ, Huang RT, Xue S, Yang YQ (2015) A novel NKX2.6\u00a0mutation\u00a0associated with\u00a0congenital\u00a0ventricular septal defect. Pediatr Cardiol 36:646\u2013656","journal-title":"Pediatr Cardiol"},{"key":"1547_CR60","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1007\/s00246-012-0482-6","volume":"34","author":"D Wei","year":"2013","unstructured":"Wei D, Bao H, Zhou N, Zheng GF, Liu XY, Yang YQ (2013) GATA5 loss-of-function\u00a0mutation\u00a0responsible for the\u00a0congenital\u00a0ventriculoseptal defect. Pediatr Cardiol 34:504\u2013511","journal-title":"Pediatr Cardiol"},{"key":"1547_CR61","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1002\/humu.22947","volume":"37","author":"P Werner","year":"2016","unstructured":"Werner P, Latney B, Deardorff MA, Goldmuntz E (2016) MESP1\u00a0mutations\u00a0in patients with\u00a0congenital\u00a0heart\u00a0defects. Hum Mutat 37:308\u2013314","journal-title":"Hum Mutat"},{"key":"1547_CR62","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.gene.2014.12.061","volume":"558","author":"J Yang","year":"2015","unstructured":"Yang J, Zhu M, Wang Y, Hou X, Wu H, Wang D, Shen H, Hu Z, Zou J (2015) Whole-exome sequencing identify a new\u00a0mutation\u00a0of MYH7 in a Chinese family with left ventricular noncompaction. Gene 558:138\u2013142","journal-title":"Gene"},{"key":"1547_CR63","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/jhg.2015.126","volume":"61","author":"A Yoshida","year":"2016","unstructured":"Yoshida A, Morisaki H, Nakaji M, Kitano M, Kim KS, Sagawa K, Ishikawa S, Satokata I, Mitani Y, Kato H, Hamaoka K, Echigo S, Shiraishi I, Morisaki T (2016) Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease. J Hum Genet 61:157\u2013162","journal-title":"J Hum Genet"},{"key":"1547_CR64","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.bbrc.2015.02.094","volume":"459","author":"XL Zhang","year":"2015","unstructured":"Zhang XL, Qiu XB, Yuan F, Wang J, Zhao CM, Li RG, Xu L, Xu YJ, Shi HY, Hou XM, Qu XK, Xu YW, Yang YQ (2015) TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy. Biochem Biophys Res Commun 459:166\u2013171","journal-title":"Biochem Biophys Res Commun"},{"key":"1547_CR65","doi-asserted-by":"crossref","first-page":"e0124409","DOI":"10.1371\/journal.pone.0124409","volume":"10","author":"CM Zhao","year":"2015","unstructured":"Zhao CM, Peng LY, Li L, Liu XY, Wang J, Zhang XL, Yuan F, Li RG, Qiu XB, Yang YQ (2015) PITX2 loss-of-function\u00a0mutation\u00a0contributes to\u00a0congenital\u00a0endocardial cushion defect and Axenfeld-Rieger syndrome. PLoS ONE 10:e0124409","journal-title":"PLoS ONE"},{"key":"1547_CR66","doi-asserted-by":"crossref","first-page":"538","DOI":"10.7150\/ijms.11700","volume":"12","author":"J Zheng","year":"2015","unstructured":"Zheng J, Li F, Liu J, Xu Z, Zhang H, Fu Q, Wang J, Sun K (2015) Investigation of somatic\u00a0NKX2-5\u00a0mutations\u00a0in Chinese children with\u00a0congenital\u00a0heart\u00a0disease. Int J Med Sci 12:538\u2013543","journal-title":"Int J Med Sci"},{"key":"1547_CR67","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1002\/bdra.20796","volume":"91","author":"JW Vincentz","year":"2011","unstructured":"Vincentz JW, Barnes RM, Firulli AB (2011) Hand factors as regulators of cardiac morphogenesis and implications for congenital heart defects. Birth Defects Res A Clin Mol Teratol 91:485\u2013494","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"1547_CR68","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.cca.2011.10.014","volume":"413","author":"Z Cheng","year":"2012","unstructured":"Cheng Z, Lib L, Li Z, Liu M, Yan J, Wang B, Ma X (2012) Two novel HAND1 mutations in Chinese patients with ventricular septal defect. Clin Chim Acta 413:675\u2013677","journal-title":"Clin Chim Acta"},{"key":"1547_CR69","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1093\/hmg\/ddn027","volume":"17","author":"SM Reamon-Buettner","year":"2008","unstructured":"Reamon-Buettner SM, Ciribilli Y, Inga A, Borlak J (2008) A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts. Hum Mol Genet 17:1397\u20131405","journal-title":"Hum Mol Genet"},{"key":"1547_CR70","doi-asserted-by":"crossref","first-page":"3567","DOI":"10.1093\/hmg\/ddp305","volume":"18","author":"SM Reamon-Buettner","year":"2009","unstructured":"Reamon-Buettner SM, Ciribilli Y, Traverso I, Kuhls B, Inga A, Borlak J (2009) A functional genetic study identifies HAND1 mutations in septation defects of the human heart. Hum Mol Genet 18:3567\u20133578","journal-title":"Hum Mol Genet"},{"key":"1547_CR71","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1097\/PAT.0b013e32834635a9","volume":"43","author":"J Wang","year":"2011","unstructured":"Wang J, Lu Y, Chen H, Yin M, Yu T, Fu Q (2011) Investigation of somatic NKX2-5, GATA4 and\u00a0HAND1\u00a0mutations in patients with tetralogy of Fallot. Pathology 43:322\u2013326","journal-title":"Pathology"},{"key":"1547_CR72","doi-asserted-by":"crossref","first-page":"32272","DOI":"10.1074\/jbc.M507640200","volume":"16","author":"S Morin","year":"2005","unstructured":"Morin S, Pozzulo G, Robitaille L, Cross J, Nemer M (2005) MEF2-dependent recruitment of the HAND1 transcription factor results in synergistic activation of target promoters. J Biol Chem 16:32272\u201332278","journal-title":"J Biol Chem"},{"key":"1547_CR73","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/humu.9410","volume":"27","author":"G Nemer","year":"2006","unstructured":"Nemer G, Fadlalah F, Usta J, Nemer M, Dbaibo G, Obeid M, Bitar F (2006) A novel mutation in the GATA4 gene in patients with\u00a0tetralogy of Fallot. Hum Mutat 27:293\u2013294","journal-title":"Hum Mutat"},{"key":"1547_CR74","doi-asserted-by":"crossref","first-page":"1662","DOI":"10.1002\/humu.22434","volume":"34","author":"YQ Yang","year":"2013","unstructured":"Yang YQ, Gharibeh L, Li RG, Xin YF, Wang J, Liu ZM, Qiu XB, Xu YJ, Xu L, Qu XK, Liu X, Fang WY, Huang RT, Xue S, Nemer G (2013) GATA4 loss-of-function mutations underlie familial\u00a0tetralogy of Fallot. Hum Mutat 34:1662\u20131671","journal-title":"Hum Mutat"},{"key":"1547_CR75","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1515\/cclm-2015-0766","volume":"54","author":"YM Zhou","year":"2016","unstructured":"Zhou YM, Dai XY, Qiu XB, Yuan F, Li RG, Xu YJ, Qu XK, Huang RT, Xue S, Yang YQ (2016) HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy. Clin Chem Lab Med 54:1161\u20131167","journal-title":"Clin Chem Lab Med"},{"key":"1547_CR76","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1007\/s00268-009-0296-8","volume":"34","author":"JP Starr","year":"2010","unstructured":"Starr JP (2010) Tetralogy of fallot: yesterday and today. World J Surg 34:658\u2013668","journal-title":"World J Surg"},{"key":"1547_CR77","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1126\/science.270.5244.1995","volume":"270","author":"D Srivastava","year":"1995","unstructured":"Srivastava D, Cserjesi P, Olson EN (1995) A subclass of bHLH proteins required for cardiac morphogenesis. Science 270:1995\u20131999","journal-title":"Science"},{"key":"1547_CR78","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1038\/ng0398-266","volume":"18","author":"AB Firulli","year":"1998","unstructured":"Firulli AB, McFadden DG, Lin Q, Srivastava D, Olson EN (1998) Heart and extra-embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1. Nat Genet 18:266\u2013270","journal-title":"Nat Genet"},{"key":"1547_CR79","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/ng0398-271","volume":"18","author":"P Riley","year":"1998","unstructured":"Riley P, Anson-Cartwright L, Cross JC (1998) The Hand1 bHLH transcription factor is essential for placentation and cardiac morphogenesis. Nat Genet 18:271\u2013275","journal-title":"Nat Genet"},{"key":"1547_CR80","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1242\/dev.01562","volume":"132","author":"DG McFadden","year":"2005","unstructured":"McFadden DG, Barbosa AC, Richardson JA, Schneider MD, Srivastava D, Olson EN (2005) The Hand1 and Hand2 transcription factors regulate expansion of the embryonic cardiac ventricles in a gene dosage-dependent manner. Development 132:189\u2013201","journal-title":"Development"},{"key":"1547_CR81","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.gene.2016.09.044","volume":"595","author":"RT Huang","year":"2016","unstructured":"Huang RT, Xue S, Wang J, Gu JY, Xu JH, Li YJ, Li N, Yang XX, Liu H, Zhang XD, Qu XK, Xu YJ, Qiu XB, Li RG, Yang YQ (2016) CASZ1 loss-of-function mutation associated with congenital heart disease. Gene 595:62\u201368","journal-title":"Gene"}],"container-title":["Pediatric Cardiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00246-016-1547-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00246-016-1547-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00246-016-1547-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T07:17:34Z","timestamp":1692602254000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00246-016-1547-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12,10]]},"references-count":81,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["1547"],"URL":"https:\/\/doi.org\/10.1007\/s00246-016-1547-8","relation":{},"ISSN":["0172-0643","1432-1971"],"issn-type":[{"value":"0172-0643","type":"print"},{"value":"1432-1971","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,12,10]]}}}