|
1
|
Marelli AJ, Mackie AS, Ionescu-Ittu R,
Rahme E and Pilote L: Congenital heart disease in the general
population: Changing prevalence and age distribution. Circulation.
115:163–172. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Drenthen W, Pieper PG, Roos-Hesselink JW,
van Lottum WA, Voors AA, Mulder BJ, van Dijk AP, Vliegen HW, Yap
SC, Moons P, et al: Outcome of pregnancy in women with congenital
heart disease: A literature review. J Am Coll Cardiol.
49:2303–2311. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Whittemore R, Hobbins JC and Engle MA:
Pregnancy and its outcome in women with and without surgical
treatment of congenital heart disease. Am J Cardiol. 50:641–651.
1982. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Marino B and Digilio MC: Congenital heart
disease and genetic syndromes: Specific correlation between cardiac
phenotype and genotype. Cardiovasc Pathol. 9:303–315. 2000.
View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Unolt M, Putotto C and Marino D:
Congenital heart disease, genetic syndromes, and major noncardiac
malformations. Eur J Pediatr. 171:18612012. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Gelb BD: Genetic basis of syndromes
associated with congenital heart disease. Curr Opin Cardiol.
16:188–194. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Al Turki S, Manickaraj AK, Mercer CL,
Gerety SS, Hitz MP, Lindsay S, D'Alessandro LC, Swaminathan GJ,
Bentham J, Arndt AK, et al: Rare variants in NR2F2 cause congenital
heart defects in humans. Am J Hum Genet. 94:574–585. 2014.
View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Lu CX, Gong HR, Liu XY, Wang J, Zhao CM,
Huang RT, Xue S and Yang YQ: A novel HAND2 loss-of-function
mutation responsible for tetralogy of Fallot. Int J Mol Med.
37:445–451. 2016.PubMed/NCBI
|
|
9
|
Pan Y, Geng R, Zhou N, Zheng GF, Zhao H,
Wang J, Zhao CM, Qiu XB, Yang YQ and Liu XY: TBX20 loss-of-function
mutation contributes to double outlet right ventricle. Int J Mol
Med. 35:1058–1066. 2015.PubMed/NCBI
|
|
10
|
Pan Y, Wang ZG, Liu XY, Zhao H, Zhou N,
Zheng GF, Qiu XB, Li RG, Yuan F, Shi HY, et al: A Novel TBX1
Loss-of-function mutation associated with congenital heart disease.
Pediatr Cardiol. 36:1400–1410. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Qu XK, Qiu XB, Yuan F, Wang J, Zhao CM,
Liu XY, Zhang XL, Li RG, Xu YJ, Hou XM, et al: A novel NKX2.5
loss-of-function mutation associated with congenital bicuspid
aortic valve. Am J Cardiol. 114:1891–1895. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Shi LM, Tao JW, Qiu XB, Wang J, Yuan F, Xu
L, Liu H, Li RG, Xu YJ, Wang Q, et al: GATA5 loss-of-function
mutations associated with congenital bicuspid aortic valve. Int J
Mol Med. 33:1219–1226. 2014.PubMed/NCBI
|
|
13
|
Wang J, Mao JH, Ding KK, Xu WJ, Liu XY,
Qiu XB, Li RG, Qu XK, Xu YJ, Huang RT, et al: A novel NKX2.6
mutation associated with congenital ventricular septal defect.
Pediatr Cardiol. 36:646–656. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Reamon-Buettner SM, Hecker H,
Spanel-Borowski K, Craatz S, Kuenzel E and Borlak J: Novel NKX2-5
mutations in diseased heart tissues of patients with cardiac
malformations. Am J Pathol. 164:2117–2125. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Xiang R, Fan LL, Huang H, Cao BB, Li XP,
Peng DQ and Xia K: A novel mutation of GATA4 (K319E) is responsible
for familial atrial septal defect and pulmonary valve stenosis.
Gene. 534:320–323. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Zhao L, Xu JH, Xu WJ, Yu H, Wang Q, Zheng
HZ, Jiang WF, Jiang JF and Yang YQ: A novel GATA4 loss-of-function
mutation responsible for familial dilated cardiomyopathy. Int J Mol
Med. 33:654–660. 2014.PubMed/NCBI
|
|
17
|
Yang YQ, Li L, Wang J, Liu XY, Chen XZ,
Zhang W, Wang XZ, Jiang JQ, Liu X and Fang WY: A novel GATA4
loss-of-function mutation associated with congenital ventricular
septal defect. Pediatr Cardiol. 33:539–546. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Debenedittis P, Harmelink C, Chen Y, Wang
Q and Jiao K: Characterization of the novel interaction between
muskelin and TBX20, a critical cardiogenic transcription factor.
Biochem Biophys Res Commun. 409:338–343. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Theis JL, Hrstka SC, Evans JM, O'Byrne MM,
de Andrade M, O'Leary PW, Nelson TJ and Olson TM: Compound
heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a
patient with hypoplastic left heart syndrome. Hum Genet.
134:1003–1011. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Swerdlow DI and Humphries SE: Genetics of
CHD in 2016: Common and rare genetic variants and risk of CHD. Nat
Rev Cardiol. 14:73–74. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Kuhlenbäumer G, Hullmann J and Appenzeller
S: Novel genomic techniques open new avenues in the analysis of
monogenic disorders. Hum Mutat. 32:144–151. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Imelfort M, Batley J, Grimmond S and
Edwards D: Genome sequencing approaches and successes. Methods Mol
Biol. 513:345–358. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Li H: Exploring single-sample SNP and
INDEL calling with whole-genome de novo assembly. Bioinformatics.
28:1838–1844. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Kent WJ, Hsu F, Karolchik D, Kuhn RM,
Clawson H, Trumbower H and Haussler D: Exploring relationships and
mining data with the UCSC gene sorter. Genome Res. 15:737–741.
2005. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Raney BJ, Dreszer TR, Barber GP, Clawson
H, Fujita PA, Wang T, Nguyen N, Paten B, Zweig AS, Karolchik D and
Kent WJ: Track data hubs enable visualization of user-defined
genome-wide annotations on the UCSC Genome Browser. Bioinformatics.
30:1003–1005. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
McKenna A, Hanna M, Banks E, Sivachenko A,
Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly
M and DePristo MA: The genome analysis toolkit: A MapReduce
framework for analyzing next-generation DNA sequencing data. Genome
Res. 20:1297–1303. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Kumar PS, Henikoff S and Ng PC: Predicting
the effects of coding non-synonymous variants on protein function
using the SIFT algorithm. Nat Protoc. 4:1073–1081. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Li H and Durbin R: Fast and accurate
long-read alignment with Burrows-Wheeler transform. Bioinformatics.
26:589–595. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
29
|
International HapMap 3 Consortium.
Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA,
Peltonen L, Dermitzakis E, Schaffner SF, Yu F, et al: Integrating
common and rare genetic variation in diverse human populations.
Nature. 467:52–58. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Kusuma L, Dinesh SM, Savitha MR,
Krishnamurthy B, Narayanappa D and Ramachandra NB: A maiden report
on CRELD1 single-nucleotide polymorphism association in congenital
heart disease patients of Mysore, South India. Genet Test Mol
Biomarkers. 15:483–487. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Zain M, Awan FR, Cooper JA, Li KW, Palmen
J, Acharya J, Howard P, Baig SM, Elkeles RS, Stephens JW, et al:
Association of TLL1 gene polymorphism (rs1503298, T > C) with
coronary heart disease in PREDICT, UDACS and ED cohorts. J Coll
Physicians Surg Pak. 24:615–619. 2014.PubMed/NCBI
|
|
32
|
Sperling S, Grimm CH, Dunkel I, Mebus S,
Sperling HP, Ebner A, Galli R, Lehrach H, Fusch C, Berger F and
Hammer S: Identification and functional analysis of CITED2
mutations in patients with congenital heart defects. Hum Mutat.
26:575–582. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Zhou L, Liu Y, Lu L, Lu X and Dixon RA:
Cardiac gene activation analysis in mammalian non-myoblasic cells
by Nkx2-5, Tbx5, Gata4 and Myocd. PLoS One. 7:e480282012.
View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Joseph EM: Zebrafish IRX1b in the
embryonic cardiac ventricle. Dev Dyn. 231:720–726. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
35
|
Dand N, Schulz R, Weale ME, Southgate L,
Oakey RJ, Simpson MA and Schlitt T: Network-informed gene ranking
tackles genetic heterogeneity in exome-sequencing studies of
monogenic disease. Hum Mutat. 36:1135–1144. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
36
|
Ma Y, Shi N, Li M, Chen F and Niu H:
Applications of Next-generation sequencing in systemic autoimmune
diseases. Genomics Proteomics Bioinformatics. 13:242–249. 2015.
View Article : Google Scholar : PubMed/NCBI
|
|
37
|
Liu YT, Lee YC and Soong BW: What we have
learned from the next-generation sequencing: Contributions to the
genetic diagnoses and understanding of pathomechanisms of
neurodegenerative diseases. J Neurogenet. 29:103–112. 2015.
View Article : Google Scholar : PubMed/NCBI
|
|
38
|
Siragam V, Cui X, Masse S, Ackerley C,
Aafaqi S, Strandberg L, Tropak M, Fridman MD, Nanthakumar K, Liu J,
et al: TMEM43 mutation p.S358L alters intercalated disc protein
expression and reduces conduction velocity in arrhythmogenic right
ventricular cardiomyopathy. PLoS One. 9:e1091282014. View Article : Google Scholar : PubMed/NCBI
|
|
39
|
Houweling AC, Dildrop R, Peters T,
Mummenhoff J, Moorman AF, Rüther U and Christoffels VM: Gene and
cluster-specific expression of the Iroquois family members during
mouse development. Mech Dev. 107:169–174. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
40
|
Bruneau BG, Bao ZZ, Fatkin D, Xavier-Neto
J, Georgakopoulos D, Maguire CT, Berul CI, Kass DA, Kuroski-de Bold
ML, de Bold AJ, et al: Cardiomyopathy in Irx4-deficient mice is
preceded by abnormal ventricular gene expression. Mol Cell Biol.
21:1730–1736. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
41
|
Christoffels VM, Keijser AG, Houweling AC,
Clout DE and Moorman AF: Patterning the embryonic heart:
Identification of five mouse Iroquois homeobox genes in the
developing heart. Dev Biol. 224:263–274. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
42
|
Bao ZZ, Bruneau BG, Seidman JG, Seidman CE
and Cepko CL: Regulation of chamber-specific gene expression in the
developing heart by Irx4. Science. 283:1161–1164. 1999. View Article : Google Scholar : PubMed/NCBI
|
