| 1 |
Fahed AC, Gelb BD, Seidman JG, et al. Genetics of congenital heart disease: the glass half empty[J]. Circ Res, 2013, 112(4): 707-720.
|
| 2 |
Hoffman JI. Incidence of congenital heart disease: II. Prenatal incidence[J]. Pediatr Cardiol, 1995, 16(4): 155-165.
|
| 3 |
Reller MD, Strickland MJ, Riehle-Colarusso T, et al. Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005[J]. J Pediatr, 2008, 153(6): 807-813.
|
| 4 |
van der Linde D, Konings EE, Slager MA, et al. Birth prevalence of congenital heart disease worldwide: a systematic review and metaanalysis[J]. J Am Coll Cardiol, 2011, 58(21): 2241-2247.
|
| 5 |
Gilboa SM, Salemi JL, Nembhard WN, et al. Mortality resulting from congenital heart disease among children and adults in the United States, 1999 to 2006[J]. Circulation, 2010, 122(22): 2254-2263.
|
| 6 |
Brickner ME, Hillis LD, Lange RA. Congenital heart disease in adults.First of two parts[J]. N Engl J Med, 2000, 342(4): 256-263.
|
| 7 |
van der Bom T, Zomer AC, Zwinderman AH, et al. The changing epidemiology of congenital heart disease[J]. Nat Rev Cardiol, 2011,8(1): 50-60.
|
| 8 |
Antonarakis SE, Lyle R, Dermitzakis ET, et al. Chromosome 21 and down syndrome: from genomics to pathophysiology[J]. Nat Rev Genet, 2004, 5(10): 725-738.
|
| 9 |
Bondy CA. Turner syndrome 2008[J]. Horm Res, 2009,71 Suppl 1: 52-56.
|
| 10 |
Pont SJ, Robbins JM, Bird TM, et al. Congenital malformations among liveborn infants with trisomies 18 and 13[J]. Am J Med Genet A, 2006, 140(16): 1749-1756.
|
| 11 |
Soemedi R, Wilson IJ, Bentham J, et al. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease[J]. Am J Hum Genet, 2012, 91(3): 489-501.
|
| 12 |
Lalani SR, Shaw C, Wang X, et al. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities[J]. Eur J Hum Genet, 2013, 21(2): 173-181.
|
| 13 |
Xu H, Morishima M, Wylie JN, et al. Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract[J]. Development, 2004,131(13): 3217-3227.
|
| 14 |
Liao J, Aggarwal VS, Nowotschin S, et al. Identification of downstream genetic pathways of Tbx1 in the second heart field[J].Dev Biol, 2008, 316(2): 524-537.
|
| 15 |
Metcalfe K, Rucka AK, Smoot L, et al. Elastin: mutational spectrum in supravalvular aortic stenosis[J]. Eur J Hum Genet, 2000, 8(12): 955-963.
|
| 16 |
Greenway SC, Pereira AC, Lin JC, et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot[J].Nat Genet, 2009, 41(8): 931-935.
|
| 17 |
Silversides CK, Lionel AC, Costain G, et al. Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways[J]. PLoS Genet, 2012, 8(8): e1002843.
|
| 18 |
Payne AR, Chang SW, Koenig SN, et al. Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome[J]. Pediatr Cardiol, 2012, 33(5): 757-763.
|
| 19 |
Yagi H, Furutani Y, Hamada H, et al. Role of TBX1 in human del22q11.2 syndrome[J]. Lancet, 2003, 362(9393):1366-1373.
|
| 20 |
Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome[J]. Nat Genet, 2004, 36(9): 955-957.
|
| 21 |
Schott JJ, Benson DW, Basson CT, et al. Congenital heart disease caused by mutations in the transcription factor Nkx2-5[J]. Science,1998, 281(5373): 108-111.
|
| 22 |
Wessels MW, Willems PJ. Genetic factors in non-syndromic congenital heart malformations[J]. Clin Genet, 2010, 78(2): 103-123.
|
| 23 |
Li L, Krantz ID, Deng Y, et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1[J].Nat Genet, 1997, 16(3): 243-251.
|
| 24 |
Ng SB, Turner EH, Robertson PD, et al. Targeted capture and massively parallel sequencing of 12 human exomes[J]. Nature, 2009,461(7261): 272-276.
|
| 25 |
Zhang SQ, Jiang T, Li M, et al. Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis[J]. Nat Genet, 2012, 44(10): 1156-1160.
|
| 26 |
O'Roak BJ, Vives L, Fu W, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders[J].Science, 2012, 338(6114): 1619-1622.
|
| 27 |
Lotta LA, Wang M, Yu J, et al. Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes[J]. BMC Med Genomics,2012, 5(1):7.
|
| 28 |
Girirajan S, Rosenfeld JA, Coe BP, et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants[J]. N Engl J Med,2012, 367(14): 1321-1331.
|