References

1. Gao M, He X, Zheng J. Advances in molecular genetics for pulmonary atresia. Cardiol Young. 2017;27(2):207-216.
2. Elias P, Poh CL, du Plessis K, et al. Long-term outcomes of single-ventricle palliation for pulmonary atresia with intact ventricular septum: Fontan survivors remain at risk of late myocardial ischaemia and death. Eur J Cardiothorac Surg.2018;53(6):1230-1236.
3. Yang SH, Luo PH, Tian XX, et al. Prenatal diagnosis of pulmonary atresia with ventricular septal defect. J Med Ultrason (2001).2018;45(2):341-344.
4. Gómez O, Martinez JM. Pulmonary Stenosis and Atresia. 2018:373-377.e371.
5. Xie L, Chen JL, Zhang WZ, et al. Rare de novo copy number variants in patients with congenital pulmonary atresia. PLoS One.2014;9(5):e96471.
6. Mercer-Rosa L, Elci OU, Pinto NM, Tanel RE, Goldmuntz E. 22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels.Pediatr Cardiol. 2018.
7. Guida V, Ferese R, Rocchetti M, et al. A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot. Eur J Hum Genet. 2013;21(1):69-75.
8. Sun X, Meng Y, You T, et al. Association of growth/differentiation factor 1 gene polymorphisms with the risk of congenital heart disease in the Chinese Han population. Molecular Biology Reports.2013;40(2):1291-1299.
9. Capelli C, Sauvage E, Giusti G, et al. Patient-specific simulations for planning treatment in congenital heart disease. Interface Focus. 2018;8(1):20170021.
10. He X, Gao B, Shi G, et al. Surgical strategy and outcomes for the delayed diagnosis of pulmonary atresia with intact ventricular septum.J Cardiol. 2018.
11. Soemedi R, Topf A, Wilson IJ, et al. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Hum Mol Genet. 2012;21(7):1513-1520.
12. Kozyraki R. Cubilin, a multifunctional epithelial receptor: an overview. Journal of Molecular Medicine-Jmm. 2001;79(4):161-167.
13. Tsaroucha AK, Chatzaki E, Lambropoulou M, et al. Megalin and cubilin in the human gallbladder epithelium. Clinical and Experimental Medicine. 2008;8(3):165-170.
14. Zhang DM, Mehler MF, Song QB, Kessler JA. Development of bone morphogenetic protein receptors in the nervous system and possible roles in regulating trkC expression. J Neurosci. 1998;18(9):3314-3326.
15. Kim M-J, Park SY, Chang HR, et al. Clinical significance linked to functional defects in bone morphogenetic protein type 2 receptor, BMPR2.BMB Reports. 2017;50(6):308-317.
16. Orriols M, Gomez-Puerto MC, Ten Dijke P. BMP type II receptor as a therapeutic target in pulmonary arterial hypertension. Cellular and molecular life sciences : CMLS. 2017;74(16):2979-2995.
17. Garcia-Rivas G, Jerjes-Sanchez C, Rodriguez D, Garcia-Pelaez J, Trevino V. A systematic review of genetic mutations in pulmonary arterial hypertension. BMC Med Genet. 2017;18(1):82.
18. Hardwick JC, Kodach LL, Offerhaus GJ, van den Brink GR. Bone morphogenetic protein signalling in colorectal cancer. Nature reviews Cancer. 2008;8(10):806-812.
19. Kim HH, Hyung WJ, Cho GS, et al. Morbidity and mortality of laparoscopic gastrectomy versus open gastrectomy for gastric cancer: an interim report–a phase III multicenter, prospective, randomized Trial (KLASS Trial). Annals of surgery. 2010;251(3):417-420.
20. Finkenzeller G, Hager S, Stark GB. Effects of bone morphogenetic protein 2 on human umbilical vein endothelial cells. Microvascular Research. 2012;84(1):81-85.
21. Todros T, Paladini D, Chiappa E, et al. Pulmonary stenosis and atresia with intact ventricular septum during prenatal life.Ultrasound in Obstetrics & Gynecology. 2003;21(3):228-233.
22. Maeno YV, Boutin C, Hornberger LK, et al. Prenatal diagnosis of right ventricular outflow tract obstruction with intact ventricular septum, and detection of ventriculocoronary connections. Heart.1999;81(6):661-668.
23. Zhao L, Zhou Z, Wang S, et al. A recurrent mutation in bone morphogenetic proteins-2-inducible kinase gene is associated with developmental dysplasia of the hip. Exp Ther Med.2017;13(5):1773-1778.
24. Song K, Backs J, McAnally J, et al. The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases. Cell. 2006;125(3):453-466.
25. Tomita-Mitchell A, Mahnke DK, Struble CA, et al. Human gene copy number spectra analysis in congenital heart malformations.Physiological Genomics. 2012;44(9):518-541.
26. Izumi K, Lippa AM, Wilkens A, Feret HA, McDonald-McGinn DM, Zackai EH. Congenital heart defects in oculodentodigital dysplasia: Report of two cases. American Journal of Medical Genetics Part A.2013;161(12):3150-3154.
27. Rosenzweig BL, Imamura T, Okadome T, et al. Cloning and characterization of a human type II receptor for bone morphogenetic proteins. Proceedings of the National Academy of Sciences.1995;92:7632-7636.
28. Girerd B, Lau E, Montani D, Humbert M. Genetics of pulmonary hypertension in the clinic. Current opinion in pulmonary medicine. 2017;23(5):386-391.
29. Lu H, Daugherty A. Atherosclerosis. Arteriosclerosis, thrombosis, and vascular biology. 2015;35(3):485-491.
30. Tsang HTH, Edwards TL, Wang X, et al. The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling. Human Molecular Genetics.2009;18(20):3805-3821.
31. Schulz TJ, Tseng YH. Emerging role of bone morphogenetic proteins in adipogenesis and energy metabolism. Cytokine & Growth Factor Reviews. 2009;20(5-6):523-531.
32. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.