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Volumn 204, Issue , 2016, Pages 115-121

Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries

Author keywords

Congenital heart disease; Copy number variation; Genetics; Reproductive fitness; Transposition of the great arteries

Indexed keywords

TRANSCRIPTION FACTOR SOX18;

EID: 84955467005     PISSN: 01675273     EISSN: 18741754     Source Type: Journal    
DOI: 10.1016/j.ijcard.2015.11.127     Document Type: Article
Times cited : (22)

References (95)
  • 1
    • 78650206677 scopus 로고    scopus 로고
    • Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006
    • S.E. Parker, C.T. Mai, M.A. Canfield, and et al. Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006 Birth Defects Res. A Clin. Mol. Teratol. 88 2010 1008 1016
    • (2010) Birth Defects Res. A Clin. Mol. Teratol. , vol.88 , pp. 1008-1016
    • Parker, S.E.1    Mai, C.T.2    Canfield, M.A.3
  • 2
    • 33846220206 scopus 로고    scopus 로고
    • Congenital heart disease in the general population: changing prevalence and age distribution
    • A.J. Marelli, A.S. Mackie, R. Ionescu-Ittu, E. Rahme, and L. Pilote Congenital heart disease in the general population: changing prevalence and age distribution Circulation 115 2007 163 172
    • (2007) Circulation , vol.115 , pp. 163-172
    • Marelli, A.J.1    Mackie, A.S.2    Ionescu-Ittu, R.3    Rahme, E.4    Pilote, L.5
  • 3
    • 84931563717 scopus 로고    scopus 로고
    • Genetics and genetic testing in congenital heart disease
    • J.R. Cowan, and S.M. Ware Genetics and genetic testing in congenital heart disease Clin. Perinatol. 42 2015 373 393
    • (2015) Clin. Perinatol. , vol.42 , pp. 373-393
    • Cowan, J.R.1    Ware, S.M.2
  • 4
    • 84866162425 scopus 로고    scopus 로고
    • Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways
    • C.K. Silversides, A.C. Lionel, G. Costain, and et al. Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways PLoS Genet. 8 2012 e1002843
    • (2012) PLoS Genet. , vol.8
    • Silversides, C.K.1    Lionel, A.C.2    Costain, G.3
  • 5
    • 84866070546 scopus 로고    scopus 로고
    • Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease
    • R. Soemedi, I.J. Wilson, J. Bentham, and et al. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease Am. J. Hum. Genet. 91 2012 489 501
    • (2012) Am. J. Hum. Genet. , vol.91 , pp. 489-501
    • Soemedi, R.1    Wilson, I.J.2    Bentham, J.3
  • 6
    • 84866915849 scopus 로고    scopus 로고
    • Rare copy number variants contribute to congenital left-sided heart disease
    • M.P. Hitz, L.P. Lemieux-Perreault, C. Marshall, and et al. Rare copy number variants contribute to congenital left-sided heart disease PLoS Genet. 8 2012 e1002903
    • (2012) PLoS Genet. , vol.8
    • Hitz, M.P.1    Lemieux-Perreault, L.P.2    Marshall, C.3
  • 7
    • 84927786478 scopus 로고    scopus 로고
    • Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data
    • J.T. Glessner, A.G. Bick, K. Ito, and et al. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data Circ. Res. 115 2014 884 896
    • (2014) Circ. Res. , vol.115 , pp. 884-896
    • Glessner, J.T.1    Bick, A.G.2    Ito, K.3
  • 8
    • 84901297710 scopus 로고    scopus 로고
    • Rare de novo copy number variants in patients with congenital pulmonary atresia
    • L. Xie, J.L. Chen, W.Z. Zhang, and et al. Rare de novo copy number variants in patients with congenital pulmonary atresia PLoS One 9 2014 e96471
    • (2014) PLoS One , vol.9
    • Xie, L.1    Chen, J.L.2    Zhang, W.Z.3
  • 9
    • 84888027933 scopus 로고    scopus 로고
    • High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease
    • W. Zhao, G. Niu, B. Shen, and et al. High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease Am. J. Med. Genet. A 161A 2013 3087 3094
    • (2013) Am. J. Med. Genet. A , vol.161 A , pp. 3087-3094
    • Zhao, W.1    Niu, G.2    Shen, B.3
  • 10
    • 84919840155 scopus 로고    scopus 로고
    • Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions
    • P.S. White, H.M. Xie, P. Werner, and et al. Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions Birth Defects Res. A Clin. Mol. Teratol. 100 2014 951 964
    • (2014) Birth Defects Res. A Clin. Mol. Teratol. , vol.100 , pp. 951-964
    • White, P.S.1    Xie, H.M.2    Werner, P.3
  • 11
    • 68149181705 scopus 로고    scopus 로고
    • De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
    • S.C. Greenway, A.C. Pereira, J.C. Lin, and et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot Nat. Genet. 41 2009 931 935
    • (2009) Nat. Genet. , vol.41 , pp. 931-935
    • Greenway, S.C.1    Pereira, A.C.2    Lin, J.C.3
  • 12
    • 84861223064 scopus 로고    scopus 로고
    • Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects
    • J.R. Priest, S. Girirajan, T.H. Vu, A. Olson, E.E. Eichler, and M.A. Portman Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects Am. J. Med. Genet. A 158A 2012 1279 1284
    • (2012) Am. J. Med. Genet. A , vol.158 A , pp. 1279-1284
    • Priest, J.R.1    Girirajan, S.2    Vu, T.H.3    Olson, A.4    Eichler, E.E.5    Portman, M.A.6
  • 13
    • 84891879501 scopus 로고    scopus 로고
    • The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease
    • D. Warburton, M. Ronemus, J. Kline, and et al. The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease Hum. Genet. 133 2014 11 27
    • (2014) Hum. Genet. , vol.133 , pp. 11-27
    • Warburton, D.1    Ronemus, M.2    Kline, J.3
  • 14
    • 79952584346 scopus 로고    scopus 로고
    • Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
    • K.A. Fakhro, M. Choi, B. Ware, SM, J.W., and et al. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning Proc. Natl. Acad. Sci. U. S. A. 108 2011 2915 2920
    • (2011) Proc. Natl. Acad. Sci. U. S. A. , vol.108 , pp. 2915-2920
    • Fakhro, K.A.1    Choi, M.2    Ware, B.3    M, S.4    W, J.5
  • 15
    • 82355170520 scopus 로고    scopus 로고
    • Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies
    • E. Goldmuntz, P. Paluru, J. Glessner, and et al. Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies Congenit. Heart Dis. 6 2011 592 602
    • (2011) Congenit. Heart Dis. , vol.6 , pp. 592-602
    • Goldmuntz, E.1    Paluru, P.2    Glessner, J.3
  • 16
    • 84862128193 scopus 로고    scopus 로고
    • Human gene copy number spectra analysis in congenital heart malformations
    • A. Tomita-Mitchell, D.K. Mahnke, C.A. Struble, and et al. Human gene copy number spectra analysis in congenital heart malformations Physiol. Genomics 44 2012 518 541
    • (2012) Physiol. Genomics , vol.44 , pp. 518-541
    • Tomita-Mitchell, A.1    Mahnke, D.K.2    Struble, C.A.3
  • 17
    • 83555162604 scopus 로고    scopus 로고
    • Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects
    • J. Breckpot, B. Thienpont, Y. Arens, and et al. Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects Cytogenet. Genome Res. 135 2011 251 259
    • (2011) Cytogenet. Genome Res. , vol.135 , pp. 251-259
    • Breckpot, J.1    Thienpont, B.2    Arens, Y.3
  • 18
    • 84933674834 scopus 로고    scopus 로고
    • Chromosomal imbalances in patients with congenital cardiac defects: a meta-analysis reveals novel potential critical regions involved in heart development
    • T. Thorsson, W.W. Russell, N. El-Kashlan, and et al. Chromosomal imbalances in patients with congenital cardiac defects: a meta-analysis reveals novel potential critical regions involved in heart development Congenit. Heart Dis. 2014
    • (2014) Congenit. Heart Dis.
    • Thorsson, T.1    Russell, W.W.2    El-Kashlan, N.3
  • 19
    • 84905181683 scopus 로고    scopus 로고
    • D-transposition of the great arteries: the current era of the arterial switch operation
    • J. Villafane, M.R. Lantin-Hermoso, A.B. Bhatt, and et al. D-transposition of the great arteries: the current era of the arterial switch operation J. Am. Coll. Cardiol. 64 2014 498 511
    • (2014) J. Am. Coll. Cardiol. , vol.64 , pp. 498-511
    • Villafane, J.1    Lantin-Hermoso, M.R.2    Bhatt, A.B.3
  • 22
    • 77950601990 scopus 로고    scopus 로고
    • Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: complex congenital cardiac lesions
    • C.K. Silversides, O. Salehian, E. Oechslin, and et al. Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: complex congenital cardiac lesions Can. J. Cardiol. 26 2010 e98 117
    • (2010) Can. J. Cardiol. , vol.26 , pp. e98-e117
    • Silversides, C.K.1    Salehian, O.2    Oechslin, E.3
  • 24
    • 0032583944 scopus 로고    scopus 로고
    • Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study
    • J. Burn, P. Brennan, J. Little, and et al. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study Lancet 351 1998 311 316
    • (1998) Lancet , vol.351 , pp. 311-316
    • Burn, J.1    Brennan, P.2    Little, J.3
  • 25
    • 0346492855 scopus 로고    scopus 로고
    • Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries
    • C.A. Loffredo, A. Chokkalingam, A.M. Sill, and et al. Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries Am. J. Med. Genet. A 124A 2004 225 230
    • (2004) Am. J. Med. Genet. A , vol.124 A , pp. 225-230
    • Loffredo, C.A.1    Chokkalingam, A.2    Sill, A.M.3
  • 26
    • 24344440728 scopus 로고    scopus 로고
    • Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries
    • G. Piacentini, M.C. Digilio, R. Capolino, and et al. Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries Am. J. Med. Genet. A 137 2005 176 180
    • (2005) Am. J. Med. Genet. A , vol.137 , pp. 176-180
    • Piacentini, G.1    Digilio, M.C.2    Capolino, R.3
  • 27
    • 84899976854 scopus 로고    scopus 로고
    • Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1,620 families
    • S. Peyvandi, E. Ingall, S. Woyciechowski, J. Garbarini, L.E. Mitchell, and E. Goldmuntz Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1,620 families Am. J. Med. Genet. A 164A 2014 1490 1495
    • (2014) Am. J. Med. Genet. A , vol.164 A , pp. 1490-1495
    • Peyvandi, S.1    Ingall, E.2    Woyciechowski, S.3    Garbarini, J.4    Mitchell, L.E.5    Goldmuntz, E.6
  • 28
    • 0032479573 scopus 로고    scopus 로고
    • Congenital heart disease caused by mutations in the transcription factor NKX2-5
    • J.J. Schott, D.W. Benson, and C.T. Basson Congenital heart disease caused by mutations in the transcription factor NKX2-5 Science 281 1998 108 111
    • (1998) Science , vol.281 , pp. 108-111
    • Schott, J.J.1    Benson, D.W.2    Basson, C.T.3
  • 30
    • 84885387775 scopus 로고    scopus 로고
    • 22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases
    • S. Peyvandi, P.J. Lupo, J. Garbarini, and et al. 22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases Pediatr. Cardiol. 34 2013 1687-1694
    • (2013) Pediatr. Cardiol. , vol.34 , pp. 1687-1694
    • Peyvandi, S.1    Lupo, P.J.2    Garbarini, J.3
  • 31
    • 56349136292 scopus 로고    scopus 로고
    • Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease
    • W.L. Fung, E.W. Chow, G.D. Webb, M.A. Gatzoulis, and A.S. Bassett Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease Int. J. Cardiol. 131 2008 51 58
    • (2008) Int. J. Cardiol. , vol.131 , pp. 51-58
    • Fung, W.L.1    Chow, E.W.2    Webb, G.D.3    Gatzoulis, M.A.4    Bassett, A.S.5
  • 32
    • 43049150082 scopus 로고    scopus 로고
    • Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review
    • B.W. van Bon, D.A. Koolen, R. Pfundt, I. van der Burgt, N. de Leeuw, and B.B. de Vries Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review Am. J. Med. Genet. A 146A 2008 1225 1229
    • (2008) Am. J. Med. Genet. A , vol.146 A , pp. 1225-1229
    • Van Bon, B.W.1    Koolen, D.A.2    Pfundt, R.3    Van Der Burgt, I.4    De Leeuw, N.5    De Vries, B.B.6
  • 33
    • 84952700663 scopus 로고    scopus 로고
    • Rare copy number variations in an adult with transposition of the great arteries emphasize the importance of updated genetic assessments in syndromic congenital cardiac disease
    • G. Costain, S.L. Roche, S.W. Scherer, C.K. Silversides, and A.S. Bassett Rare copy number variations in an adult with transposition of the great arteries emphasize the importance of updated genetic assessments in syndromic congenital cardiac disease Int. J. Cardiol. 203 2015 516 518
    • (2015) Int. J. Cardiol. , vol.203 , pp. 516-518
    • Costain, G.1    Roche, S.L.2    Scherer, S.W.3    Silversides, C.K.4    Bassett, A.S.5
  • 34
    • 78650268835 scopus 로고    scopus 로고
    • Patterns of cardiac and extra-cardiac anomalies in adults with tetralogy of Fallot
    • S. Piran, A.S. Bassett, J. Grewal, and et al. Patterns of cardiac and extra-cardiac anomalies in adults with tetralogy of Fallot Am. Heart J. 161 2011 131 137
    • (2011) Am. Heart J. , vol.161 , pp. 131-137
    • Piran, S.1    Bassett, A.S.2    Grewal, J.3
  • 35
    • 84887006110 scopus 로고    scopus 로고
    • Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays
    • G. Costain, A.C. Lionel, D. Merico, and et al. Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays Hum. Mol. Genet. 22 2013 4485 4501
    • (2013) Hum. Mol. Genet. , vol.22 , pp. 4485-4501
    • Costain, G.1    Lionel, A.C.2    Merico, D.3
  • 36
    • 84925673504 scopus 로고    scopus 로고
    • A high-resolution copy-number variation resource for clinical and population genetics
    • M. Uddin, B. Thiruvahindrapuram, S. Walker, and et al. A high-resolution copy-number variation resource for clinical and population genetics Genet. Med. 2014
    • (2014) Genet. Med.
    • Uddin, M.1    Thiruvahindrapuram, B.2    Walker, S.3
  • 37
    • 52949085789 scopus 로고    scopus 로고
    • Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
    • J.M. Korn, F.G. Kuruvilla, S.A. McCarroll, and et al. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs Nat. Genet. 40 2008 1253 1260
    • (2008) Nat. Genet. , vol.40 , pp. 1253-1260
    • Korn, J.M.1    Kuruvilla, F.G.2    McCarroll, S.A.3
  • 38
    • 79958162661 scopus 로고    scopus 로고
    • Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
    • D. Pinto, K. Darvishi, X. Shi, and et al. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants Nat. Biotechnol. 29 2011 512 520
    • (2011) Nat. Biotechnol. , vol.29 , pp. 512-520
    • Pinto, D.1    Darvishi, K.2    Shi, X.3
  • 39
    • 80051709029 scopus 로고    scopus 로고
    • Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD
    • A.C. Lionel, J. Crosbie, N. Barbosa, and et al. Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD Sci. Transl. Med. 3 2011 95ra75
    • (2011) Sci. Transl. Med. , vol.3
    • Lionel, A.C.1    Crosbie, J.2    Barbosa, N.3
  • 40
    • 33344470090 scopus 로고    scopus 로고
    • PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships
    • M. Krawczak, S. Nikolaus, H. von Eberstein, P.J. Croucher, N.E. El Mokhtari, and S. Schreiber PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships Community Genet. 9 2006 55 61
    • (2006) Community Genet. , vol.9 , pp. 55-61
    • Krawczak, M.1    Nikolaus, S.2    Von Eberstein, H.3    Croucher, P.J.4    El Mokhtari, N.E.5    Schreiber, S.6
  • 41
    • 64049119620 scopus 로고    scopus 로고
    • Kinesin family member 6 variant Trp719Arg does not associate with angiographically defined coronary artery disease in the Ottawa Heart Genomics Study
    • A.F. Stewart, S. Dandona, L. Chen, and et al. Kinesin family member 6 variant Trp719Arg does not associate with angiographically defined coronary artery disease in the Ottawa Heart Genomics Study J. Am. Coll. Cardiol. 53 2009 1471 1472
    • (2009) J. Am. Coll. Cardiol. , vol.53 , pp. 1471-1472
    • Stewart, A.F.1    Dandona, S.2    Chen, L.3
  • 43
    • 84864619335 scopus 로고    scopus 로고
    • A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation
    • A.D. Coviello, R. Haring, M. Wellons, and et al. A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation PLoS Genet. 8 2012 e1002805
    • (2012) PLoS Genet. , vol.8
    • Coviello, A.D.1    Haring, R.2    Wellons, M.3
  • 44
    • 38849170356 scopus 로고    scopus 로고
    • Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer
    • P.A. Newcomb, J. Baron, M. Cotterchio, and et al. Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer Cancer Epidemiol. Biomark. Prev. 16 2007 2331 2343
    • (2007) Cancer Epidemiol. Biomark. Prev. , vol.16 , pp. 2331-2343
    • Newcomb, P.A.1    Baron, J.2    Cotterchio, M.3
  • 45
    • 84874654256 scopus 로고    scopus 로고
    • Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
    • V.J. Verhoeven, P.G. Hysi, R. Wojciechowski, and et al. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia Nat. Genet. 45 2013 314 318
    • (2013) Nat. Genet. , vol.45 , pp. 314-318
    • Verhoeven, V.J.1    Hysi, P.G.2    Wojciechowski, R.3
  • 46
    • 33846536406 scopus 로고    scopus 로고
    • Novel genes identified in a high-density genome wide association study for nicotine dependence
    • L.J. Bierut, P.A. Madden, N. Breslau, and et al. Novel genes identified in a high-density genome wide association study for nicotine dependence Hum. Mol. Genet. 16 2007 24 35
    • (2007) Hum. Mol. Genet. , vol.16 , pp. 24-35
    • Bierut, L.J.1    Madden, P.A.2    Breslau, N.3
  • 47
    • 84879001958 scopus 로고    scopus 로고
    • De novo mutations in histone-modifying genes in congenital heart disease
    • S. Zaidi, M. Choi, H. Wakimoto, and et al. De novo mutations in histone-modifying genes in congenital heart disease Nature 498 2013 220 223
    • (2013) Nature , vol.498 , pp. 220-223
    • Zaidi, S.1    Choi, M.2    Wakimoto, H.3
  • 49
    • 2342599742 scopus 로고    scopus 로고
    • Sinoatrial node dysfunction and early unexpected death of mice with a defect of klotho gene expression
    • K. Takeshita, T. Fujimori, Y. Kurotaki, and et al. Sinoatrial node dysfunction and early unexpected death of mice with a defect of klotho gene expression Circulation 109 2004 1776 1782
    • (2004) Circulation , vol.109 , pp. 1776-1782
    • Takeshita, K.1    Fujimori, T.2    Kurotaki, Y.3
  • 50
    • 84857628377 scopus 로고    scopus 로고
    • Differential activation of valvulogenic, chondrogenic, and osteogenic pathways in mouse models of myxomatous and calcific aortic valve disease
    • J.D. Cheek, E.E. Wirrig, C.M. Alfieri, J.F. James, and K.E. Yutzey Differential activation of valvulogenic, chondrogenic, and osteogenic pathways in mouse models of myxomatous and calcific aortic valve disease J. Mol. Cell. Cardiol. 52 2012 689 700
    • (2012) J. Mol. Cell. Cardiol. , vol.52 , pp. 689-700
    • Cheek, J.D.1    Wirrig, E.E.2    Alfieri, C.M.3    James, J.F.4    Yutzey, K.E.5
  • 51
    • 77649122250 scopus 로고    scopus 로고
    • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    • S. Girirajan, J.A. Rosenfeld, G.M. Cooper, and et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay Nat. Genet. 42 2010 203 209
    • (2010) Nat. Genet. , vol.42 , pp. 203-209
    • Girirajan, S.1    Rosenfeld, J.A.2    Cooper, G.M.3
  • 54
    • 84878176890 scopus 로고    scopus 로고
    • Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease
    • A. Syrmou, M. Tzetis, H. Fryssira, and et al. Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease Pediatr. Res. 73 2013 772 776
    • (2013) Pediatr. Res. , vol.73 , pp. 772-776
    • Syrmou, A.1    Tzetis, M.2    Fryssira, H.3
  • 55
    • 64149099583 scopus 로고    scopus 로고
    • DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources
    • H.V. Firth, S.M. Richards, A.P. Bevan, and et al. DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources Am. J. Hum. Genet. 84 2009 524 533
    • (2009) Am. J. Hum. Genet. , vol.84 , pp. 524-533
    • Firth, H.V.1    Richards, S.M.2    Bevan, A.P.3
  • 56
    • 73849092523 scopus 로고    scopus 로고
    • Chromosome r(10) (p15.3q26.12) in a newborn child: case report
    • C. Gunnarsson, B. Graffmann, and J. Jonasson Chromosome r(10) (p15.3q26.12) in a newborn child: case report Mol. Cytogenet. 2 2009 25
    • (2009) Mol. Cytogenet. , vol.2 , pp. 25
    • Gunnarsson, C.1    Graffmann, B.2    Jonasson, J.3
  • 57
    • 63749096757 scopus 로고    scopus 로고
    • Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome with associated autosomal aneuploidy
    • M. Golabi, A.W. James, N. Desai, K. Culver, and P.D. Cotter Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome with associated autosomal aneuploidy Am. J. Med. Genet. A 149A 2009 693 697
    • (2009) Am. J. Med. Genet. A , vol.149 A , pp. 693-697
    • Golabi, M.1    James, A.W.2    Desai, N.3    Culver, K.4    Cotter, P.D.5
  • 58
    • 16644401852 scopus 로고    scopus 로고
    • Expression of sax1/nkx1.2 and sax2/nkx1.1 in zebrafish
    • Y.K. Bae, T. Shimizu, O. Muraoka, and et al. Expression of sax1/nkx1.2 and sax2/nkx1.1 in zebrafish Gene Expr. Patterns 4 2004 481 486
    • (2004) Gene Expr. Patterns , vol.4 , pp. 481-486
    • Bae, Y.K.1    Shimizu, T.2    Muraoka, O.3
  • 59
    • 84859113042 scopus 로고    scopus 로고
    • Nkx1-2 is a transcriptional repressor and is essential for the activation of Brachyury in P19 mouse embryonal carcinoma cell
    • D.A. Tamashiro, V.B. Alarcon, and Y. Marikawa Nkx1-2 is a transcriptional repressor and is essential for the activation of Brachyury in P19 mouse embryonal carcinoma cell Differentiation 83 2012 282 292
    • (2012) Differentiation , vol.83 , pp. 282-292
    • Tamashiro, D.A.1    Alarcon, V.B.2    Marikawa, Y.3
  • 60
    • 84905365104 scopus 로고    scopus 로고
    • Integration of signals along orthogonal axes of the vertebrate neural tube controls progenitor competence and increases cell diversity
    • N. Sasai, E. Kutejova, and J. Briscoe Integration of signals along orthogonal axes of the vertebrate neural tube controls progenitor competence and increases cell diversity PLoS Biol. 12 2014 e1001907
    • (2014) PLoS Biol. , vol.12
    • Sasai, N.1    Kutejova, E.2    Briscoe, J.3
  • 61
    • 0037407682 scopus 로고    scopus 로고
    • RhoA is highly up-regulated in the process of early heart development of the chick and important for normal embryogenesis
    • M. Kaarbo, D.I. Crane, and W.G. Murrell RhoA is highly up-regulated in the process of early heart development of the chick and important for normal embryogenesis Dev. Dyn. 227 2003 35 47
    • (2003) Dev. Dyn. , vol.227 , pp. 35-47
    • Kaarbo, M.1    Crane, D.I.2    Murrell, W.G.3
  • 62
    • 84874362045 scopus 로고    scopus 로고
    • An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions
    • B.J. Kim, H.P. Zaveri, O.A. Shchelochkov, and et al. An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions PLoS One 8 2013 e57460
    • (2013) PLoS One , vol.8
    • Kim, B.J.1    Zaveri, H.P.2    Shchelochkov, O.A.3
  • 63
    • 84875144768 scopus 로고    scopus 로고
    • The SLC8 gene family of sodium-calcium exchangers (NCX) - structure, function, and regulation in health and disease
    • D. Khananshvili The SLC8 gene family of sodium-calcium exchangers (NCX) - structure, function, and regulation in health and disease Mol. Asp. Med. 34 2013 220 235
    • (2013) Mol. Asp. Med. , vol.34 , pp. 220-235
    • Khananshvili, D.1
  • 64
    • 84863661494 scopus 로고    scopus 로고
    • The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model
    • M. Raveau, J.M. Lignon, V. Nalesso, and et al. The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model PLoS Genet. 8 2012 e1002724
    • (2012) PLoS Genet. , vol.8
    • Raveau, M.1    Lignon, J.M.2    Nalesso, V.3
  • 65
    • 79751510326 scopus 로고    scopus 로고
    • A novel mutant allele of Ncx1: a single amino acid substitution leads to cardiac dysfunction
    • C. Wansleeben, H. Feitsma, L. Tertoolen, and et al. A novel mutant allele of Ncx1: a single amino acid substitution leads to cardiac dysfunction Int. J. Dev. Biol. 54 2010 1465 1471
    • (2010) Int. J. Dev. Biol. , vol.54 , pp. 1465-1471
    • Wansleeben, C.1    Feitsma, H.2    Tertoolen, L.3
  • 66
    • 0034711286 scopus 로고    scopus 로고
    • 2 + exchanger gene leads to cardiomyocyte apoptosis and defects in heartbeat
    • 2 + exchanger gene leads to cardiomyocyte apoptosis and defects in heartbeat J. Biol. Chem. 275 2000 36991 36998
    • (2000) J. Biol. Chem. , vol.275 , pp. 36991-36998
    • Wakimoto, K.1    Kobayashi, K.2    Kuro, O.M.3
  • 67
    • 84878726099 scopus 로고    scopus 로고
    • Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders
    • M. den Hoed, M. Eijgelsheim, T. Esko, and et al. Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders Nat. Genet. 45 2013 621 631
    • (2013) Nat. Genet. , vol.45 , pp. 621-631
    • Den Hoed, M.1    Eijgelsheim, M.2    Esko, T.3
  • 69
    • 33845397717 scopus 로고    scopus 로고
    • Hippi is essential for node cilia assembly and Sonic hedgehog signaling
    • C. Houde, R.J. Dickinson, V.M. Houtzager, and et al. Hippi is essential for node cilia assembly and Sonic hedgehog signaling Dev. Biol. 300 2006 523 533
    • (2006) Dev. Biol. , vol.300 , pp. 523-533
    • Houde, C.1    Dickinson, R.J.2    Houtzager, V.M.3
  • 70
    • 78049298308 scopus 로고    scopus 로고
    • Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association
    • C.B. Arrington, A. Patel, C.A. Bacino, and N.E. Bowles Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association Am. J. Med. Genet. A 152A 2010 2919 2923
    • (2010) Am. J. Med. Genet. A , vol.152 A , pp. 2919-2923
    • Arrington, C.B.1    Patel, A.2    Bacino, C.A.3    Bowles, N.E.4
  • 71
    • 33749562122 scopus 로고    scopus 로고
    • Role of FIP200 in cardiac and liver development and its regulation of TNFalpha and TSC-mTOR signaling pathways
    • B. Gan, X. Peng, T. Nagy, A. Alcaraz, H. Gu, and J.L. Guan Role of FIP200 in cardiac and liver development and its regulation of TNFalpha and TSC-mTOR signaling pathways J. Cell Biol. 175 2006 121 133
    • (2006) J. Cell Biol. , vol.175 , pp. 121-133
    • Gan, B.1    Peng, X.2    Nagy, T.3    Alcaraz, A.4    Gu, H.5    Guan, J.L.6
  • 72
    • 67649848389 scopus 로고    scopus 로고
    • X-linked cataract and Nance-Horan syndrome are allelic disorders
    • M. Coccia, S.P. Brooks, T.R. Webb, and et al. X-linked cataract and Nance-Horan syndrome are allelic disorders Hum. Mol. Genet. 18 2009 2643 2655
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 2643-2655
    • Coccia, M.1    Brooks, S.P.2    Webb, T.R.3
  • 73
    • 78751564284 scopus 로고    scopus 로고
    • The chemokine receptor CXCR7 functions to regulate cardiac valve remodeling
    • S. Yu, D. Crawford, T. Tsuchihashi, T.W. Behrens, and D. Srivastava The chemokine receptor CXCR7 functions to regulate cardiac valve remodeling Dev. Dyn. 240 2011 384 393
    • (2011) Dev. Dyn. , vol.240 , pp. 384-393
    • Yu, S.1    Crawford, D.2    Tsuchihashi, T.3    Behrens, T.W.4    Srivastava, D.5
  • 74
    • 84908656094 scopus 로고    scopus 로고
    • Decoy receptor CXCR7 modulates adrenomedullin-mediated cardiac and lymphatic vascular development
    • K.R. Klein, N.O. Karpinich, S.T. Espenschied, and et al. Decoy receptor CXCR7 modulates adrenomedullin-mediated cardiac and lymphatic vascular development Dev. Cell 30 2014 528 540
    • (2014) Dev. Cell , vol.30 , pp. 528-540
    • Klein, K.R.1    Karpinich, N.O.2    Espenschied, S.T.3
  • 75
    • 35548996783 scopus 로고    scopus 로고
    • Disrupted cardiac development but normal hematopoiesis in mice deficient in the second CXCL12/SDF-1 receptor, CXCR7
    • F. Sierro, C. Biben, L. Martinez-Munoz, and et al. Disrupted cardiac development but normal hematopoiesis in mice deficient in the second CXCL12/SDF-1 receptor, CXCR7 Proc. Natl. Acad. Sci. U. S. A. 104 2007 14759 14764
    • (2007) Proc. Natl. Acad. Sci. U. S. A. , vol.104 , pp. 14759-14764
    • Sierro, F.1    Biben, C.2    Martinez-Munoz, L.3
  • 76
    • 0035984003 scopus 로고    scopus 로고
    • Beta8 integrins are required for vascular morphogenesis in mouse embryos
    • J. Zhu, K. Motejlek, D. Wang, K. Zang, A. Schmidt, and L.F. Reichardt beta8 integrins are required for vascular morphogenesis in mouse embryos Development 129 2002 2891 2903
    • (2002) Development , vol.129 , pp. 2891-2903
    • Zhu, J.1    Motejlek, K.2    Wang, D.3    Zang, K.4    Schmidt, A.5    Reichardt, L.F.6
  • 77
    • 78650364449 scopus 로고    scopus 로고
    • Beta8 integrin and band 4.1B cooperatively regulate morphogenesis of the embryonic heart
    • Y. Jung, J.L. Kissil, and J.H. McCarty beta8 integrin and band 4.1B cooperatively regulate morphogenesis of the embryonic heart Dev. Dyn. 240 2011 271 277
    • (2011) Dev. Dyn. , vol.240 , pp. 271-277
    • Jung, Y.1    Kissil, J.L.2    McCarty, J.H.3
  • 78
    • 0034645518 scopus 로고    scopus 로고
    • Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1
    • A.E. Lin, P.H. Birch, B.R. Korf, and et al. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1 Am. J. Med. Genet. 95 2000 108 117
    • (2000) Am. J. Med. Genet. , vol.95 , pp. 108-117
    • Lin, A.E.1    Birch, P.H.2    Korf, B.R.3
  • 79
    • 34447265321 scopus 로고    scopus 로고
    • Redundant roles of Sox17 and Sox18 in early cardiovascular development of mouse embryos
    • Y. Sakamoto, K. Hara, M. Kanai-Azuma, and et al. Redundant roles of Sox17 and Sox18 in early cardiovascular development of mouse embryos Biochem. Biophys. Res. Commun. 360 2007 539 544
    • (2007) Biochem. Biophys. Res. Commun. , vol.360 , pp. 539-544
    • Sakamoto, Y.1    Hara, K.2    Kanai-Azuma, M.3
  • 80
    • 28444446266 scopus 로고    scopus 로고
    • SOX7 and SOX18 are essential for cardiogenesis in Xenopus
    • C. Zhang, T. Basta, and M.W. Klymkowsky SOX7 and SOX18 are essential for cardiogenesis in Xenopus Dev. Dyn. 234 2005 878 891
    • (2005) Dev. Dyn. , vol.234 , pp. 878-891
    • Zhang, C.1    Basta, T.2    Klymkowsky, M.W.3
  • 82
    • 0034069877 scopus 로고    scopus 로고
    • Mutations in Sox18 underlie cardiovascular and hair follicle defects in ragged mice
    • D. Pennisi, J. Gardner, D. Chambers, and et al. Mutations in Sox18 underlie cardiovascular and hair follicle defects in ragged mice Nat. Genet. 24 2000 434 437
    • (2000) Nat. Genet. , vol.24 , pp. 434-437
    • Pennisi, D.1    Gardner, J.2    Chambers, D.3
  • 83
    • 2942668448 scopus 로고    scopus 로고
    • Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease
    • J. Christiansen, J.D. Dyck, B.G. Elyas, and et al. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease Circ. Res. 94 2004 1429 1435
    • (2004) Circ. Res. , vol.94 , pp. 1429-1435
    • Christiansen, J.1    Dyck, J.D.2    Elyas, B.G.3
  • 84
    • 84875933554 scopus 로고    scopus 로고
    • 1q21.1 Microduplication expression in adults
    • A. Dolcetti, C.K. Silversides, C.R. Marshall, and et al. 1q21.1 Microduplication expression in adults Genet. Med. 15 2013 282 289
    • (2013) Genet. Med. , vol.15 , pp. 282-289
    • Dolcetti, A.1    Silversides, C.K.2    Marshall, C.R.3
  • 85
    • 84874319887 scopus 로고    scopus 로고
    • Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis
    • M.C. Digilio, L. Bernardini, F. Consoli, and et al. Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis Eur. J. Med. Genet. 56 2013 144 149
    • (2013) Eur. J. Med. Genet. , vol.56 , pp. 144-149
    • Digilio, M.C.1    Bernardini, L.2    Consoli, F.3
  • 86
    • 84858257118 scopus 로고    scopus 로고
    • Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
    • R. Soemedi, A. Topf, I.J. Wilson, and 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. 21 2012 1513 1520
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 1513-1520
    • Soemedi, R.1    Topf, A.2    Wilson, I.J.3
  • 88
    • 5344223383 scopus 로고    scopus 로고
    • Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    • I. Splawski, K.W. Timothy, L.M. Sharpe, and et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism Cell 119 2004 19 31
    • (2004) Cell , vol.119 , pp. 19-31
    • Splawski, I.1    Timothy, K.W.2    Sharpe, L.M.3
  • 89
    • 84866739941 scopus 로고    scopus 로고
    • Inherited calcium channelopathies in the pathophysiology of arrhythmias
    • L. Venetucci, M. Denegri, C. Napolitano, and S.G. Priori Inherited calcium channelopathies in the pathophysiology of arrhythmias Nat. Rev. Cardiol. 9 2012 561 575
    • (2012) Nat. Rev. Cardiol. , vol.9 , pp. 561-575
    • Venetucci, L.1    Denegri, M.2    Napolitano, C.3    Priori, S.G.4
  • 90
    • 84892379085 scopus 로고    scopus 로고
    • Effect of copy number variants on outcomes for infants with single ventricle heart defects
    • A.S. Carey, L. Liang, J. Edwards, and et al. Effect of copy number variants on outcomes for infants with single ventricle heart defects Circ. Cardiovasc. Genet. 6 2013 444 451
    • (2013) Circ. Cardiovasc. Genet. , vol.6 , pp. 444-451
    • Carey, A.S.1    Liang, L.2    Edwards, J.3
  • 91
    • 77955379566 scopus 로고    scopus 로고
    • Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease
    • A.S. Bassett, S.W. Scherer, and L.M. Brzustowicz Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease Am. J. Psychiatry 167 2010 899 914
    • (2010) Am. J. Psychiatry , vol.167 , pp. 899-914
    • Bassett, A.S.1    Scherer, S.W.2    Brzustowicz, L.M.3
  • 93
    • 84955494682 scopus 로고    scopus 로고
    • Current practice and utility of chromosome microarray analysis in infants undergoing cardiac surgery
    • J.R. Buckley, M.N. Kavarana, S.M. Chowdhury, and M.A. Scheurer Current practice and utility of chromosome microarray analysis in infants undergoing cardiac surgery Congenit. Heart Dis. 2014
    • (2014) Congenit. Heart Dis.
    • Buckley, J.R.1    Kavarana, M.N.2    Chowdhury, S.M.3    Scheurer, M.A.4
  • 95
    • 84891783452 scopus 로고    scopus 로고
    • The Database of Genomic Variants: a curated collection of structural variation in the human genome
    • J.R. Macdonald, R. Ziman, R.K. Yuen, L. Feuk, and S.W. Scherer The Database of Genomic Variants: a curated collection of structural variation in the human genome Nucleic Acids Res. 42 2014 D986 D992
    • (2014) Nucleic Acids Res. , vol.42 , pp. D986-D992
    • Macdonald, J.R.1    Ziman, R.2    Yuen, R.K.3    Feuk, L.4    Scherer, S.W.5


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