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Volumn 36, Issue 4, 2015, Pages 768-778

Post-mortem Whole Exome Sequencing with Gene-Specific Analysis for Autopsy-Negative Sudden Unexplained Death in the Young: A Case Series

Author keywords

Cardiomyopathy; Genes; Genetics; Long QT syndrome; Sudden death

Indexed keywords

RYANODINE RECEPTOR 2;

EID: 84925501370     PISSN: 01720643     EISSN: 14321971     Source Type: Journal    
DOI: 10.1007/s00246-014-1082-4     Document Type: Article
Times cited : (75)

References (36)
  • 2
    • 68249152641 scopus 로고    scopus 로고
    • State of postmortem genetic testing known as the cardiac channel molecular autopsy in the forensic evaluation of unexplained sudden cardiac death in the young
    • PID: 19602172
    • Ackerman M (2009) State of postmortem genetic testing known as the cardiac channel molecular autopsy in the forensic evaluation of unexplained sudden cardiac death in the young. Pacing Clin Electrophysiol 32(Suppl 2):S86–S89
    • (2009) Pacing Clin Electrophysiol , vol.32 , pp. 86-89
    • Ackerman, M.1
  • 4
    • 84864649027 scopus 로고    scopus 로고
    • Points to consider in the clinical application of genomic sequencing
    • ACMG Board of Directors (2012) Points to consider in the clinical application of genomic sequencing. Genet Med 14 (8):759–761
    • (2012) Genet Med , vol.14 , Issue.8 , pp. 759-761
  • 6
    • 84896921083 scopus 로고    scopus 로고
    • Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young
    • PID: 24440382
    • Bagnall RD, Das KJ, Duflou J, Semsarian C (2014) Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young. Heart Rhythm 11(4):655–662. doi:10.1016/j.hrthm.2014.01.017
    • (2014) Heart Rhythm , vol.11 , Issue.4 , pp. 655-662
    • Bagnall, R.D.1    Das, K.J.2    Duflou, J.3    Semsarian, C.4
  • 7
    • 0035040923 scopus 로고    scopus 로고
    • Postmortem diagnosis in sudden cardiac death victims: macroscopic, microscopic and molecular findings
    • COI: 1:CAS:528:DC%2BD3MXjtFGgtb4%3D, PID: 11334833
    • Basso C, Calabrese F, Corrado D, Thiene G (2001) Postmortem diagnosis in sudden cardiac death victims: macroscopic, microscopic and molecular findings. Cardiovasc Res 50(2):290–300
    • (2001) Cardiovasc Res , vol.50 , Issue.2 , pp. 290-300
    • Basso, C.1    Calabrese, F.2    Corrado, D.3    Thiene, G.4
  • 9
    • 84884482008 scopus 로고    scopus 로고
    • Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome
    • COI: 1:CAS:528:DC%2BC3sXpvFerurY%3D, PID: 23677916
    • Boczek NJ, Best JM, Tester DJ, Giudicessi JR, Middha S, Evans JM, Kamp TJ, Ackerman MJ (2013) Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet 6(3):279–289
    • (2013) Circ Cardiovasc Genet , vol.6 , Issue.3 , pp. 279-289
    • Boczek, N.J.1    Best, J.M.2    Tester, D.J.3    Giudicessi, J.R.4    Middha, S.5    Evans, J.M.6    Kamp, T.J.7    Ackerman, M.J.8
  • 13
    • 0021839929 scopus 로고
    • Sudden unexpected death in children and adolescents
    • COI: 1:STN:280:DyaL2M3gvVyhtQ%3D%3D, PID: 3998328
    • Driscoll DJ, Edwards WD (1985) Sudden unexpected death in children and adolescents. J Am Coll Cardiol 5(6 Suppl):118B–121B
    • (1985) J Am Coll Cardiol , vol.5 , pp. 118-121
    • Driscoll, D.J.1    Edwards, W.D.2
  • 17
    • 77649185345 scopus 로고    scopus 로고
    • Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • PID: 19808347
    • Hershberger RE, Cowan J, Morales A, Siegfried JD (2009) Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Heart Fail 2(3):253–261
    • (2009) Circ Heart Fail , vol.2 , Issue.3 , pp. 253-261
    • Hershberger, R.E.1    Cowan, J.2    Morales, A.3    Siegfried, J.D.4
  • 18
  • 19
    • 0036775298 scopus 로고    scopus 로고
    • Cardiac-enriched LIM domain protein fhl2 is required to generate I(Ks) in a heterologous system
    • COI: 1:CAS:528:DC%2BD38XntVWqs7w%3D, PID: 12237170
    • Kupershmidt S, Yang IC, Sutherland M, Wells KS, Yang T, Yang P, Balser JR, Roden DM (2002) Cardiac-enriched LIM domain protein fhl2 is required to generate I(Ks) in a heterologous system. Cardiovasc Res 56(1):93–103
    • (2002) Cardiovasc Res , vol.56 , Issue.1 , pp. 93-103
    • Kupershmidt, S.1    Yang, I.C.2    Sutherland, M.3    Wells, K.S.4    Yang, T.5    Yang, P.6    Balser, J.R.7    Roden, D.M.8
  • 20
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows–Wheeler transform
    • COI: 1:CAS:528:DC%2BD1MXot1Cjtbo%3D, PID: 19451168
    • Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows–Wheeler transform. Bioinformatics 25(14):1754–1760. doi:10.1093/bioinformatics/btp324
    • (2009) Bioinformatics , vol.25 , Issue.14 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 21
    • 55549097836 scopus 로고    scopus 로고
    • Mapping short DNA sequencing reads and calling variants using mapping quality scores
    • COI: 1:CAS:528:DC%2BD1cXhtlKhsrrN, PID: 18714091
    • Li H, Ruan J, Durbin R (2008) Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res 18(11):1851–1858. doi:10.1101/gr.078212.108
    • (2008) Genome Res , vol.18 , Issue.11 , pp. 1851-1858
    • Li, H.1    Ruan, J.2    Durbin, R.3
  • 22
    • 0029911747 scopus 로고    scopus 로고
    • Sudden death from cardiac causes in children and young adults
    • COI: 1:STN:280:DyaK287nslygtA%3D%3D, PID: 8598843
    • Liberthson RR (1996) Sudden death from cardiac causes in children and young adults. N Engl J Med 334(16):1039–1044
    • (1996) N Engl J Med , vol.334 , Issue.16 , pp. 1039-1044
    • Liberthson, R.R.1
  • 24
    • 0030057106 scopus 로고    scopus 로고
    • Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles
    • COI: 1:STN:280:DyaK283ptVGqsQ%3D%3D, PID: 8667563
    • Maron BJ, Shirani J, Poliac LC, Mathenge R, Roberts WC, Mueller FO (1996) Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles. JAMA 276(3):199–204
    • (1996) JAMA , vol.276 , Issue.3 , pp. 199-204
    • Maron, B.J.1    Shirani, J.2    Poliac, L.C.3    Mathenge, R.4    Roberts, W.C.5    Mueller, F.O.6
  • 27
    • 57149087496 scopus 로고    scopus 로고
    • Reducing sudden death in young people in Australia and New Zealand: the TRAGADY initiative
    • PID: 19012547
    • Skinner JR, Duflou JA, Semsarian C (2008) Reducing sudden death in young people in Australia and New Zealand: the TRAGADY initiative. Med J Aust 189(10):539–540
    • (2008) Med J Aust , vol.189 , Issue.10 , pp. 539-540
    • Skinner, J.R.1    Duflou, J.A.2    Semsarian, C.3
  • 29
    • 33748141992 scopus 로고    scopus 로고
    • The role of molecular autopsy in unexplained sudden cardiac death
    • PID: 16601452
    • Tester DJ, Ackerman MJ (2006) The role of molecular autopsy in unexplained sudden cardiac death. Curr Opin Cardiol 21(3):166–172
    • (2006) Curr Opin Cardiol , vol.21 , Issue.3 , pp. 166-172
    • Tester, D.J.1    Ackerman, M.J.2
  • 30
    • 63849202628 scopus 로고    scopus 로고
    • Cardiomyopathic and channelopathic causes of sudden unexplained death in infants and children
    • COI: 1:CAS:528:DC%2BD1MXitlynt78%3D, PID: 18928334
    • Tester DJ, Ackerman MJ (2009) Cardiomyopathic and channelopathic causes of sudden unexplained death in infants and children. Annu Rev Med 60:69–84
    • (2009) Annu Rev Med , vol.60 , pp. 69-84
    • Tester, D.J.1    Ackerman, M.J.2
  • 31
    • 79952715853 scopus 로고    scopus 로고
    • Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice
    • PID: 21382904
    • Tester DJ, Ackerman MJ (2011) Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice. Circulation 123(9):1021–1037
    • (2011) Circulation , vol.123 , Issue.9 , pp. 1021-1037
    • Tester, D.J.1    Ackerman, M.J.2
  • 32
    • 84863484022 scopus 로고    scopus 로고
    • Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing
    • COI: 1:CAS:528:DC%2BC38XhtFCjsL%2FN, PID: 22677073
    • Tester DJ, Medeiros-Domingo A, Will ML, Haglund CM, Ackerman MJ (2012) Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc 87(6):524–539
    • (2012) Mayo Clin Proc , vol.87 , Issue.6 , pp. 524-539
    • Tester, D.J.1    Medeiros-Domingo, A.2    Will, M.L.3    Haglund, C.M.4    Ackerman, M.J.5
  • 34
    • 0035513537 scopus 로고    scopus 로고
    • Sudden cardiac death
    • COI: 1:STN:280:DC%2BD38%2FksFSrug%3D%3D, PID: 11755373
    • Virmani R, Burke A, Farb A (2001) Sudden cardiac death. Cardiovasc Pathol 10(6):275–282
    • (2001) Cardiovasc Pathol , vol.10 , Issue.6 , pp. 275-282
    • Virmani, R.1    Burke, A.2    Farb, A.3
  • 36
    • 84856780037 scopus 로고    scopus 로고
    • Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing
    • COI: 1:CAS:528:DC%2BC38XivVKjsrg%3D, PID: 22348076
    • Zhi D, Chen R (2012) Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing. PLoS One 7(2):e31358. doi:10.1371/journal.pone.0031358
    • (2012) PLoS One , vol.7 , Issue.2 , pp. 31358
    • Zhi, D.1    Chen, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.