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Volumn 168, Issue 4, 2014, Pages 371-377

Genetic epidemiology and nonsyndromic structural birth defects from candidate genes to epigenetics

Author keywords

[No Author keywords available]

Indexed keywords

BIRTH DEFECT; EPIGENETICS; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC EPIDEMIOLOGY; GENOME; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84898431456     PISSN: 21686203     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamapediatrics.2013.4858     Document Type: Review
Times cited : (39)

References (75)
  • 1
    • 0036208756 scopus 로고    scopus 로고
    • Genetic epidemiology and congenital malformations: From the chromosome to the crib
    • published correction appears in Arch Pediatr Adolesc Med. 2002;156(10):1051
    • Hobbs CA, Cleves MA, Simmons CJ. Genetic epidemiology and congenital malformations: from the chromosome to the crib [published correction appears in Arch Pediatr Adolesc Med. 2002;156(10):1051]. Arch Pediatr Adolesc Med. 2002;156(4):315-320.
    • (2002) Arch Pediatr Adolesc Med , vol.156 , Issue.4 , pp. 315-320
    • Hobbs, C.A.1    Cleves, M.A.2    Simmons, C.J.3
  • 3
    • 84859394070 scopus 로고    scopus 로고
    • Prevalence of autism spectrum disorders-Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008
    • Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal Investigators Centers for Disease Control and Prevention
    • Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal Investigators; Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders-Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008. MMWR Surveill Summ. 2012;61(3):1-19.
    • (2012) MMWR Surveill Summ , vol.61 , Issue.3 , pp. 1-19
  • 4
    • 84898412584 scopus 로고    scopus 로고
    • Department of Health and Human Services; Centers for Disease Control and Prevention; National Cancer Institute Atlanta, GA: Centers for Disease Control and Prevention
    • Department of Health and Human Services; Centers for Disease Control and Prevention; National Cancer Institute. 1999-2005 United States Cancer Statistics (USCS): Incidence and Mortality Web-Based Report. Atlanta, GA: Centers for Disease Control and Prevention; 2009.
    • (2009) 1999-2005 United States Cancer Statistics (USCS): Incidence and Mortality Web-Based Report.
  • 5
    • 33750107067 scopus 로고    scopus 로고
    • The burden of diabetes mellitus among us youth: Prevalence estimates from the search for diabetes in youth study
    • SEARCH for Diabetes in Youth Study Group
    • Liese AD, D'Agostino RB Jr, Hamman RF, et al; SEARCH for Diabetes in Youth Study Group. The burden of diabetes mellitus among US youth: prevalence estimates from the SEARCH for Diabetes in Youth Study. Pediatrics. 2006;118(4):1510-1518.
    • (2006) Pediatrics , vol.118 , Issue.4 , pp. 1510-1518
    • Liese, A.D.1    D'Agostino Jr., R.B.2    Hamman, R.F.3
  • 6
    • 78650206677 scopus 로고    scopus 로고
    • Updated national birth prevalence estimates for selected birth defects in the United States 2004-2006
    • National Birth Defects Prevention Network
    • Parker SE, Mai CT, Canfield MA, et al; National Birth Defects Prevention Network. Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol. 2010;88(12):1008-1016.
    • (2010) Birth Defects Res A Clin Mol Teratol , vol.88 , Issue.12 , pp. 1008-1016
    • Parker, S.E.1    Mai, C.T.2    Canfield, M.A.3
  • 7
    • 13744256916 scopus 로고    scopus 로고
    • Congenital heart defects and abnormal maternal biomarkers of methionine and homocysteine metabolism
    • Hobbs CA, ClevesMA, Melnyk S, ZhaoW, James SJ. Congenital heart defects and abnormal maternal biomarkers of methionine and homocysteine metabolism. Am J Clin Nutr. 2005;81(1):147-153.
    • (2005) Am J Clin Nutr , vol.81 , Issue.1 , pp. 147-153
    • Hobbs, C.A.1    Clevesma Melnyk, S.2    Zhao, W.3    James, S.J.4
  • 8
    • 83655169769 scopus 로고    scopus 로고
    • Using genomics for birth defects epidemiology: Can epigenetics cut the GxE Gordian knot?
    • Friedman JM. Using genomics for birth defects epidemiology: can epigenetics cut the GxE Gordian knot? Birth Defects Res A Clin Mol Teratol. 2011;91(12):986-989.
    • (2011) Birth Defects Res A Clin Mol Teratol , vol.91 , Issue.12 , pp. 986-989
    • Friedman, J.M.1
  • 9
    • 0003396461 scopus 로고
    • Cambridge, England: Cambridge University Press
    • Waddington CH. Organisers and Genes. Cambridge, England: Cambridge University Press; 1940.
    • (1940) Organisers and Genes
    • Waddington, C.H.1
  • 10
    • 33645730373 scopus 로고    scopus 로고
    • Genetic regulation of cardiogenesis and congenital heart disease
    • Srivastava D. Genetic regulation of cardiogenesis and congenital heart disease. Annu Rev Pathol. 2006;1:199-213.
    • (2006) Annu Rev Pathol , vol.1 , pp. 199-213
    • Srivastava, D.1
  • 12
    • 37549037491 scopus 로고    scopus 로고
    • The mthfr 677c->t polymorphism and the risk of congenital heart defects: A literature review and meta-analysis
    • van Beynum IM, den HeijerM, Blom HJ, Kapusta L. The MTHFR 677C->T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis. QJM. 2007;100(12): 743-753.
    • (2007) QJM , vol.100 , Issue.12 , pp. 743-753
    • Van Beynum, I.M.1    Den Heijer, M.2    Blom, H.J.3    Kapusta, L.4
  • 13
    • 0034190437 scopus 로고    scopus 로고
    • Occurrence of congenital heart defects in relation to maternal multivitamin use
    • Botto LD, Mulinare J, Erickson JD. Occurrence of congenital heart defects in relation to maternal multivitamin use. Am J Epidemiol. 2000;151(9):878-884.
    • (2000) Am J Epidemiol , vol.151 , Issue.9 , pp. 878-884
    • Botto, L.D.1    Mulinare, J.2    Erickson, J.D.3
  • 14
    • 67649209221 scopus 로고    scopus 로고
    • 118 Snps of folate-related genes and risks of spina bifida and conotruncal heart defects
    • Shaw GM, LuW, Zhu H, et al. 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. BMC Med Genet. 2009;10:49.
    • (2009) BMC Med Genet , vol.10 , pp. 49
    • Shaw, G.M.1    Luw Zhu, H.2
  • 15
    • 84865541363 scopus 로고    scopus 로고
    • Infants' mthfr polymorphisms and nonsyndromic orofacial clefts susceptibility: Ameta-analysis based on 17 case-control studies
    • Pan Y, ZhangW,Ma J, et al. Infants' MTHFR polymorphisms and nonsyndromic orofacial clefts susceptibility: ameta-analysis based on 17 case-control studies. Am J Med Genet A. 2012;158A(9):2162-2169.
    • (2012) Am J Med Genet A , vol.158 A , Issue.9 , pp. 2162-2169
    • Pan, Y.1    Zhangwma, J.2
  • 16
    • 84055200205 scopus 로고    scopus 로고
    • Meta analysis of the association between mthfr c677t polymorphism and the risk of congenital heart defects
    • Yin M, Dong L, Zheng J, Zhang H, Liu J, Xu Z. Meta analysis of the association between MTHFR C677T polymorphism and the risk of congenital heart defects. Ann Hum Genet. 2012;76(1):9-16.
    • (2012) Ann Hum Genet , vol.76 , Issue.1 , pp. 9-16
    • Yin, M.1    Dong, L.2    Zheng, J.3    Zhang, H.4    Liu, J.5    Xu, Z.6
  • 17
    • 13844313862 scopus 로고    scopus 로고
    • Whole-genome patterns of common dna variation in three human populations
    • Hinds DA, Stuve LL, Nilsen GB, et al. Whole-genome patterns of common DNA variation in three human populations. Science. 2005;307(5712):1072-1079.
    • (2005) Science , vol.307 , Issue.5712 , pp. 1072-1079
    • Hinds, D.A.1    Stuve, L.L.2    Nilsen, G.B.3
  • 18
    • 0035094764 scopus 로고    scopus 로고
    • Variation is the spice of life
    • Kruglyak L, Nickerson DA. Variation is the spice of life. Nat Genet. 2001;27(3):234-236.
    • (2001) Nat Genet , vol.27 , Issue.3 , pp. 234-236
    • Kruglyak, L.1    Nickerson, D.A.2
  • 19
    • 79959503826 scopus 로고    scopus 로고
    • The international hapmap project
    • International HapMap Consortium.
    • International HapMap Consortium. The International HapMap Project. Nature. 2003;426(6968):789-796.
    • (2003) Nature , vol.426 , Issue.6968 , pp. 789-796
  • 20
    • 2342429384 scopus 로고    scopus 로고
    • Genomics: Consensus emerges on hapmap strategy
    • Couzin J. Genomics: consensus emerges on HapMap strategy. Science. 2004;304(5671): 671-673.
    • (2004) Science , vol.304 , Issue.5671 , pp. 671-673
    • Couzin, J.1
  • 21
    • 84885837460 scopus 로고    scopus 로고
    • Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate
    • Leslie EJ, Murray JC. Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate. Clin Genet. 2013;84(5): 496-500.
    • (2013) Clin Genet , vol.84 , Issue.5 , pp. 496-500
    • Leslie, E.J.1    Murray, J.C.2
  • 22
    • 73949160160 scopus 로고    scopus 로고
    • Genetics of human neural tube defects
    • Greene ND, Stanier P, Copp AJ. Genetics of human neural tube defects. Hum Mol Genet. 2009;18(R2):R113-R129.
    • (2009) Hum Mol Genet , vol.18 , Issue.R2
    • Greene, N.D.1    Stanier, P.2    Copp, A.J.3
  • 23
    • 84874248574 scopus 로고    scopus 로고
    • The congenital heart disease genetic network study: Rationale design and early results
    • Pediatric Cardiac Genomics Consortium
    • Gelb B, Brueckner M, ChungW, et al; Pediatric Cardiac Genomics Consortium. The Congenital Heart Disease Genetic Network Study: rationale, design, and early results. Circ Res. 2013;112(4):698-706.
    • (2013) Circ Res , vol.112 , Issue.4 , pp. 698-706
    • Gelb, B.1    Brueckner, M.2    Chung, W.3
  • 24
    • 79951800135 scopus 로고    scopus 로고
    • Cleft lip and palate: Understanding genetic and environmental influences
    • Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet. 2011;12(3):167-178.
    • (2011) Nat Rev Genet , vol.12 , Issue.3 , pp. 167-178
    • Dixon, M.J.1    Marazita, M.L.2    Beaty, T.H.3    Murray, J.C.4
  • 25
    • 84874691430 scopus 로고    scopus 로고
    • A molecular and genetic outline of cardiac morphogenesis
    • Rana MS, Christoffels VM, Moorman AF. A molecular and genetic outline of cardiac morphogenesis. Acta Physiol (Oxf). 2013;207(4):588-615.
    • (2013) Acta Physiol (Oxf) , vol.207 , Issue.4 , pp. 588-615
    • Rana, M.S.1    Christoffels, V.M.2    Moorman, A.F.3
  • 27
    • 75749155367 scopus 로고    scopus 로고
    • National Human Genome Research Institute website. Accessed June 17
    • Genome-wide association studies. National Human Genome Research Institute website. http://www.genome.gov/20019523. Accessed June 17, 2013.
    • (2013) Genome-wide Association Studies
  • 28
    • 77953701161 scopus 로고    scopus 로고
    • Genome-wide association studies and "the art of the soluble"
    • Hunter DJ, Chanock SJ. Genome-wide association studies and "the art of the soluble". J Natl Cancer Inst. 2010;102(12):836-837.
    • (2010) J Natl Cancer Inst , vol.102 , Issue.12 , pp. 836-837
    • Hunter, D.J.1    Chanock, S.J.2
  • 29
    • 78651229757 scopus 로고    scopus 로고
    • Common variants in dgkk are strongly associated with risk of hypospadias
    • van der Zanden LF, van Rooij IA, Feitz WF, et al. Common variants in DGKK are strongly associated with risk of hypospadias. Nat Genet. 2011;43(1):48-50.
    • (2011) Nat Genet , vol.43 , Issue.1 , pp. 48-50
    • Van Der Zanden, L.F.1    Van Rooij, I.A.2    Feitz, W.F.3
  • 30
    • 73349086542 scopus 로고    scopus 로고
    • Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate
    • Mangold E, Ludwig KU, Birnbaum S, et al. Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet. 2010;42(1):24-26.
    • (2010) Nat Genet , vol.42 , Issue.1 , pp. 24-26
    • Mangold, E.1    Ludwig, K.U.2    Birnbaum, S.3
  • 31
    • 63449105241 scopus 로고    scopus 로고
    • Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
    • Birnbaum S, Ludwig KU, Reutter H, et al. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet. 2009;41(4):473-477.
    • (2009) Nat Genet , vol.41 , Issue.4 , pp. 473-477
    • Birnbaum, S.1    Ludwig, K.U.2    Reutter, H.3
  • 32
    • 77952886672 scopus 로고    scopus 로고
    • A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
    • published correction appears in Nat Genet. 2010;42(8):727
    • Beaty TH, Murray JC, Marazita ML, et al. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 [published correction appears in Nat Genet. 2010;42(8):727]. Nat Genet. 2010;42(6):525-529.
    • (2010) Nat Genet , vol.42 , Issue.6 , pp. 525-529
    • Beaty, T.H.1    Murray, J.C.2    Marazita, M.L.3
  • 33
    • 73949148687 scopus 로고    scopus 로고
    • A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24
    • Grant SF,Wang K, Zhang H, et al. A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. J Pediatr. 2009;155(6):909-913.
    • (2009) J Pediatr , vol.155 , Issue.6 , pp. 909-913
    • Grant Sfwang, K.1    Zhang, H.2
  • 34
    • 15944420190 scopus 로고    scopus 로고
    • Nkx2.5 and congenital heart defects: A population-based study
    • Hobbs CA, ClevesMA, Keith C, Ghaffar S, James SJ. NKX2.5 and congenital heart defects: a population-based study. Am J Med Genet A. 2005;134A(2):223-225.
    • (2005) Am J Med Genet A , vol.134 A , Issue.2 , pp. 223-225
    • Hobbs, C.A.1    Clevesma Keith, C.2    Ghaffar, S.3    James, S.J.4
  • 35
    • 32944470812 scopus 로고    scopus 로고
    • Congenital heart defects and genetic variants in the methylenetetrahydroflate reductase gene
    • Hobbs CA, James SJ, Parsian A, et al. Congenital heart defects and genetic variants in the methylenetetrahydroflate reductase gene. J Med Genet. 2006;43(2):162-166.
    • (2006) J Med Genet , vol.43 , Issue.2 , pp. 162-166
    • Hobbs, C.A.1    James, S.J.2    Parsian, A.3
  • 36
    • 79960559657 scopus 로고    scopus 로고
    • Discovery of genetic susceptibility factors for human birth defects: An opportunity for a national agenda
    • Olshan AF, Hobbs CA, Shaw GM. Discovery of genetic susceptibility factors for human birth defects: an opportunity for a National Agenda. Am J Med Genet A. 2011;155A(8):1794-1797.
    • (2011) Am J Med Genet A , vol.155 A , Issue.8 , pp. 1794-1797
    • Olshan, A.F.1    Hobbs, C.A.2    Shaw, G.M.3
  • 37
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature. 2006;444(7118):444-454.
    • (2006) Nature , vol.444 , Issue.7118 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3
  • 38
    • 68149181705 scopus 로고    scopus 로고
    • De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of fallot
    • Greenway SC, Pereira AC, Lin JC, et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet. 2009;41(8):931-935.
    • (2009) Nat Genet , vol.41 , Issue.8 , pp. 931-935
    • Greenway, S.C.1    Pereira, A.C.2    Lin, J.C.3
  • 39
    • 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
    • Warburton D, Ronemus M, Kline J, 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. 2014;133(1):11-27.
    • (2014) Hum Genet , vol.133 , Issue.1 , pp. 11-27
    • Warburton, D.1    Ronemus, M.2    Kline, J.3
  • 40
    • 78649657562 scopus 로고    scopus 로고
    • Clinical report ofmicrophthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2
    • Bardakjian TM, Kwok S, Slavotinek AM, Schneider AS. Clinical report ofmicrophthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2. Am J Med Genet A. 2010;152A(12):3120-3123.
    • (2010) Am J Med Genet A , vol.152 A , Issue.12 , pp. 3120-3123
    • Bardakjian, T.M.1    Kwok, S.2    Slavotinek, A.M.3    Schneider, A.S.4
  • 41
    • 78649655581 scopus 로고    scopus 로고
    • Targeted array comparative genomic hybridisation (array cgh) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (cdh)
    • Srisupundit K, Brady PD, Devriendt K, et al. Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH). Prenat Diagn. 2010;30(12-13):1198-1206.
    • (2010) Prenat Diagn , vol.30 , Issue.12-13 , pp. 1198-1206
    • Srisupundit, K.1    Brady, P.D.2    Devriendt, K.3
  • 42
    • 59849085563 scopus 로고    scopus 로고
    • Identification ofmicrodeletions in candidate genes for cleft lip and/or palate
    • Shi M, Mostowska A, Jugessur A, et al. Identification ofmicrodeletions in candidate genes for cleft lip and/or palate. BirthDefects Res A Clin Mol Teratol. 2009;85(1):42-51.
    • (2009) BirthDefects Res A Clin Mol Teratol , vol.85 , Issue.1 , pp. 42-51
    • Shi, M.1    Mostowska, A.2    Jugessur, A.3
  • 43
    • 77956118641 scopus 로고    scopus 로고
    • Copy number variation analysis in single-suture craniosynostosis: Multiple rare variants including runx2 duplication in two cousins with metopic craniosynostosis
    • Mefford HC, Shafer N, Antonacci F, et al. Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. Am J Med Genet A. 2010;152A(9):2203-2210.
    • (2010) Am J Med Genet A , vol.152 A , Issue.9 , pp. 2203-2210
    • Mefford, H.C.1    Shafer, N.2    Antonacci, F.3
  • 44
    • 78650658745 scopus 로고    scopus 로고
    • Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (cakut) by array-based comparative genomic hybridization
    • Weber S, Landwehr C, RenkertM, et al. Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization. Nephrol Dial Transplant. 2011;26(1):136-143.
    • (2011) Nephrol Dial Transplant , vol.26 , Issue.1 , pp. 136-143
    • Weber, S.1    Renkertm, L.C.2
  • 45
    • 70350221909 scopus 로고    scopus 로고
    • Copy number variation in human health, disease, and evolution
    • Zhang F, GuW, HurlesME, Lupski JR. Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet. 2009;10:451-481.
    • (2009) Annu Rev Genomics Hum Genet , vol.10 , pp. 451-481
    • Zhang, F.1    Hurlesme, G.2    Lupski, J.R.3
  • 46
    • 7244245762 scopus 로고    scopus 로고
    • Finishing the euchromatic sequence of the human genome
    • International Human Genome Sequencing Consortium
    • International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature. 2004;431(7011): 931-945.
    • (2004) Nature , vol.431 , Issue.7011 , pp. 931-945
  • 47
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies - The next generation
    • Metzker ML. Sequencing technologies-the next generation. Nat Rev Genet. 2010;11(1):31-46.
    • (2010) Nat Rev Genet , vol.11 , Issue.1 , pp. 31-46
    • Metzker, M.L.1
  • 48
    • 84875932002 scopus 로고    scopus 로고
    • New approaches to molecular diagnosis
    • Korf BR, Rehm HL. New approaches to molecular diagnosis. JAMA. 2013;309(14):1511-1521.
    • (2013) JAMA , vol.309 , Issue.14 , pp. 1511-1521
    • Korf, B.R.1    Rehm, H.L.2
  • 49
    • 84864920004 scopus 로고    scopus 로고
    • Comparison of next-generation sequencing systems
    • Liu L, Li Y, Li S, et al. Comparison of next-generation sequencing systems. J Biomed Biotechnol. 2012;2012:251364.
    • (2012) J Biomed Biotechnol , vol.2012 , pp. 251364
    • Liu, L.1    Li, Y.2    Li, S.3
  • 50
    • 84860756398 scopus 로고    scopus 로고
    • Performance comparison of benchtop high-throughput sequencing platforms
    • Loman NJ,Misra RV, Dallman TJ, et al. Performance comparison of benchtop high-throughput sequencing platforms. Nat Biotechnol. 2012;30(5):434-439.
    • (2012) Nat Biotechnol , vol.30 , Issue.5 , pp. 434-439
    • Loman Njmisra, R.V.1    Dallman, T.J.2
  • 51
    • 84867031832 scopus 로고    scopus 로고
    • Next-generation sequencing formitochondrial diseases: A wide diagnostic spectrum
    • Vasta V, Merritt JL II, Saneto RP, Hahn SH. Next-generation sequencing formitochondrial diseases: a wide diagnostic spectrum. Pediatr Int. 2012;54(5):585-601.
    • (2012) Pediatr Int , vol.54 , Issue.5 , pp. 585-601
    • Vasta, V.1    Merritt, J.L.I.I.2    Saneto, R.P.3    Hahn, S.H.4
  • 52
    • 80054746492 scopus 로고    scopus 로고
    • Exome sequencing as a tool for mendelian disease gene discovery
    • Bamshad MJ, Ng SB, Bigham AW, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011;12(11):745-755.
    • (2011) Nat Rev Genet , vol.12 , Issue.11 , pp. 745-755
    • Bamshad, M.J.1    Ng, S.B.2    Bigham, A.W.3
  • 53
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature. 2009;461(7265):747-753.
    • (2009) Nature , vol.461 , Issue.7265 , pp. 747-753
    • Manolio, T.A.1    Collins, F.S.2    Cox, N.J.3
  • 54
    • 84879001958 scopus 로고    scopus 로고
    • De novo mutations in histone-modifying genes in congenital heart disease
    • Zaidi S, Choi M,Wakimoto H, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013;498(7453):220-223.
    • (2013) Nature , vol.498 , Issue.7453 , pp. 220-223
    • Zaidi, S.1    Choi, M.2    Wakimoto, H.3
  • 56
    • 84888301672 scopus 로고    scopus 로고
    • Recent advances in understanding the genetics of congenital heart defects
    • published online August 29 doi:10.1097/MOP.0b013e3283648826
    • Gelb BD. Recent advances in understanding the genetics of congenital heart defects [published online August 29, 2013]. Curr Opin Pediatr. doi:10.1097/MOP.0b013e3283648826.
    • (2013) Curr Opin Pediatr
    • Gelb, B.D.1
  • 57
    • 84898447359 scopus 로고    scopus 로고
    • Bio-Reference Laboratories website. Accessed May 14
    • GeneTests. Bio-Reference Laboratories website. http://www.genetests.org. Accessed May 14, 2013.
    • (2013) GeneTests
  • 58
    • 84875964664 scopus 로고    scopus 로고
    • The NIH genetic testing registry: A new, centralized database of genetic tests to enable access to comprehensive information and improve transparency
    • Database issue
    • RubinsteinWS,Maglott DR, Lee JM, et al. The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency. Nucleic Acids Res. 2013;41(Database issue):D925-D935.
    • (2013) Nucleic Acids Res , vol.41
    • Rubinsteinwsmaglott, D.R.1    Lee, J.M.2
  • 60
    • 84867350321 scopus 로고    scopus 로고
    • Opportunities and challenges associated with clinical diagnostic genome sequencing: A report of the Association for Molecular Pathology
    • Schrijver I, Aziz N, Farkas DH, et al. Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology. J Mol Diagn. 2012;14(6):525-540.
    • (2012) J Mol Diagn , vol.14 , Issue.6 , pp. 525-540
    • Schrijver, I.1    Aziz, N.2    Farkas, D.H.3
  • 61
    • 84862795516 scopus 로고    scopus 로고
    • Next-generation sequencing to identify genetic causes of cardiomyopathies
    • Norton N, Li D, Hershberger RE. Next-generation sequencing to identify genetic causes of cardiomyopathies. Curr Opin Cardiol. 2012;27(3):214-220.
    • (2012) Curr Opin Cardiol , vol.27 , Issue.3 , pp. 214-220
    • Norton, N.1    Li, D.2    Hershberger, R.E.3
  • 62
    • 84860297457 scopus 로고    scopus 로고
    • De novo gene disruptions in children on the autistic spectrum
    • Iossifov I, Ronemus M, Levy D, et al. De novo gene disruptions in children on the autistic spectrum. Neuron. 2012;74(2):285-299.
    • (2012) Neuron , vol.74 , Issue.2 , pp. 285-299
    • Iossifov, I.1    Ronemus, M.2    Levy, D.3
  • 63
    • 84868686559 scopus 로고    scopus 로고
    • Diagnostic exome sequencing in persons with severe intellectual disability
    • de Ligt J,Willemsen MH, van Bon BW, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367(20):1921- 1929.
    • (2012) N Engl J Med , vol.367 , Issue.20 , pp. 1921-1929
    • De Ligt, J.1    Willemsen, M.H.2    Van Bon, B.W.3
  • 66
    • 0026708177 scopus 로고
    • Targeted mutation of the dna methyltransferase gene results in embryonic lethality
    • Li E, Bestor TH, Jaenisch R. Targeted mutation of the DNA methyltransferase gene results in embryonic lethality. Cell. 1992;69(6):915-926.
    • (1992) Cell , vol.69 , Issue.6 , pp. 915-926
    • Li, E.1    Bestor, T.H.2    Jaenisch, R.3
  • 67
    • 0033615717 scopus 로고    scopus 로고
    • Dna methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development
    • Okano M, Bell DW, Haber DA, Li E. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell. 1999;99(3):247-257.
    • (1999) Cell , vol.99 , Issue.3 , pp. 247-257
    • Okano, M.1    Bell, D.W.2    Haber, D.A.3    Li, E.4
  • 68
    • 0032722062 scopus 로고    scopus 로고
    • Recombinant human DNA (cytosine-5) methyltransferase: I, expression, purification, and comparison of de novo and maintenance methylation
    • Pradhan S, Bacolla A,Wells RD, Roberts RJ. Recombinant human DNA (cytosine-5) methyltransferase: I, expression, purification, and comparison of de novo and maintenance methylation. J Biol Chem. 1999;274(46):33002-33010.
    • (1999) J Biol Chem , vol.274 , Issue.46 , pp. 33002-33010
    • Pradhan, S.1    Bacolla, A.2    Wells, R.D.3    Roberts, R.J.4
  • 69
    • 0031873353 scopus 로고    scopus 로고
    • Maternal epigenetics and methyl supplements affect agouti gene expression in Avy/a mice
    • Wolff GL, Kodell RL, Moore SR, Cooney CA. Maternal epigenetics and methyl supplements affect agouti gene expression in Avy/a mice. FASEB J. 1998;12(11):949-957.
    • (1998) FASEB J , vol.12 , Issue.11 , pp. 949-957
    • Wolff, G.L.1    Kodell, R.L.2    Moore, S.R.3    Cooney, C.A.4
  • 70
    • 0036322831 scopus 로고    scopus 로고
    • Maternal methyl supplements inmice affect epigenetic variation and dna methylation of offspring
    • Cooney CA, Dave AA,Wolff GL. Maternal methyl supplements inmice affect epigenetic variation and DNA methylation of offspring. J Nutr. 2002;132(8 suppl):2393S-2400S.
    • (2002) J Nutr , vol.132 , Issue.8 SUPPL.
    • Cooney, C.A.1    Dave, A.A.2    Wolff, G.L.3
  • 71
    • 84859384580 scopus 로고    scopus 로고
    • Folic acid increases global dna methylation and reduces inflammation to prevent helicobacter-associated gastric cancer in mice
    • Gonda TA, Kim YI, Salas MC, et al. Folic acid increases global DNA methylation and reduces inflammation to prevent Helicobacter-associated gastric cancer in mice. Gastroenterology. 2012;142(4):824-833.e7.
    • (2012) Gastroenterolog , vol.142 , Issue.4
    • Gonda, T.A.1    Kim, Y.I.2    Salas, M.C.3
  • 72
    • 0026546877 scopus 로고
    • A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands
    • Frommer M, McDonald LE, Millar DS, et al. A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands. Proc Natl Acad Sci U S A. 1992;89(5):1827-1831.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , Issue.5 , pp. 1827-1831
    • Frommer, M.1    McDonald, L.E.2    Millar, D.S.3
  • 73
    • 79960556965 scopus 로고    scopus 로고
    • Epigenome-wide association studies for common human diseases
    • Rakyan VK, Down TA, Balding DJ, Beck S. Epigenome-wide association studies for common human diseases. Nat Rev Genet. 2011;12(8): 529-541.
    • (2011) Nat Rev Genet , vol.12 , Issue.8 , pp. 529-541
    • Rakyan, V.K.1    Down, T.A.2    Balding, D.J.3    Beck, S.4
  • 74
    • 77649240380 scopus 로고    scopus 로고
    • Widespread and tissue specific age-related DNA methylation changes inmice
    • Maegawa S, Hinkal G, Kim HS, et al. Widespread and tissue specific age-related DNA methylation changes inmice. Genome Res. 2010;20(3):332-340.
    • (2010) Genome Res , vol.20 , Issue.3 , pp. 332-340
    • Maegawa, S.1    Hinkal, G.2    Kim, H.S.3
  • 75
    • 78651276230 scopus 로고    scopus 로고
    • Allele-specific dna methylation: Beyond imprinting
    • Tycko B. Allele-specific DNA methylation: beyond imprinting. Hum Mol Genet. 2010;19(R2):R210-R220.
    • (2010) Hum Mol Genet , vol.19 , Issue.R2
    • Tycko, B.1


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