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Epidemiology and genetics of sudden cardiac death
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Kelly M, Semsarian C. Multiple mutations in genetic cardiovascular disease a marker of disease severity? Circ Cardiovasc Genet. 2009;2:182–90.
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The genetics of cardiac disease associated with sudden cardiac death: a paper from the 2011 William Beaumont Hospital Symposium on molecular pathology
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Perrin MJ, Gollob MH. The genetics of cardiac disease associated with sudden cardiac death: a paper from the 2011 William Beaumont Hospital Symposium on molecular pathology. J Mol Diagn. 2012;14(5):424–36.
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Genetic variation in the alternative splicing regulator, RBM20, is associated with dilated cardiomyopathy
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Refaat MM, Lubitz SA, Makino S, et al. Genetic variation in the alternative splicing regulator, RBM20, is associated with dilated cardiomyopathy. Heart Rhythm. 2012;9(3):390–6.
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Sudden cardiac death and genetic ion channelopathies: long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation
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Napolitano C, Bloise R, Monteforte N, et al. Sudden cardiac death and genetic ion channelopathies: long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation. Circulation. 2012;125(16):2027–34.
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84930202853
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High incidence of functional ion channel abnormalities in a consecutive long QT syndrome cohort with genetic variants of unknown significance
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Refaat MM, Buur Steffensen A, David JP, et al. High incidence of functional ion channel abnormalities in a consecutive long QT syndrome cohort with genetic variants of unknown significance. J Am Coll Cardiol. 2014;63(12):A110–1.
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Refaat, M.M.1
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84904565206
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Utility of the exercise electrocardiogram testing in sudden cardiac death risk stratification
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PID: 25040480, This study provides a thorough description of the utility of the exercise electrocardiogram testing in sudden cardiac death risk stratification
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Refaat MM, Hotait M, Tseng ZH. Utility of the exercise electrocardiogram testing in sudden cardiac death risk stratification. Ann Noninvasive Electrocardiol. 2014;19(4):311–8. This study provides a thorough description of the utility of the exercise electrocardiogram testing in sudden cardiac death risk stratification.
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Ann Noninvasive Electrocardiol
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Refaat, M.M.1
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Holst AG, Jensen HK, Eschen O, et al. Low disease prevalence and inappropriate implantable cardioverter defibrillator shock rate in Brugada syndrome: a nationwide study. Europace. 2012;14(7):1025–9.
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84876338437
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Characterization and mechanisms of action of novel Nav1.5 channel mutations associated with Brugada syndrome
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Characterization of 3 novel NaV1.5 channel mutations associated with the Brugada syndrome
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Calloe K, Refaat MM, Grubb S, et al. Characterization of 3 novel NaV1.5 channel mutations associated with the Brugada syndrome. Biophys J. 2012;102(3):540a–1.
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36049001507
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A novel ryanodine receptor mutation linked to sudden death increases sensitivity to cytosolic calcium
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Meli AC, Refaat MM, Dura M, et al. A novel ryanodine receptor mutation linked to sudden death increases sensitivity to cytosolic calcium. Circ Res. 2011;109(3):281–90.
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Priori SG, Wilde AA, Horie M, et al. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace. 2013;15(10):1389–406.
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Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction
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77955091644
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Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction
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48749127844
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Coxsackievirus and adenovirus receptor (CAR) mediates atrioventricular-node function and connexin 45 localization in the murine heart
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Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals
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The β2-adrenergic receptor Gln27 polymorphism is associated with increased ventricular arrhythmias in patients with severe heart failure
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Refaat M, Frangiskakis JM, Grimley S, et al. The β2-adrenergic receptor Gln27 polymorphism is associated with increased ventricular arrhythmias in patients with severe heart failure. Heart Rhythm. 2009;6(5S):S456.
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Variations in cardiac calcium-handling genes are associated with ventricular arrhythmias in patients with severe cardiomyopathy
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Refaat M, Mehdi H, Halder I, et al. Variations in cardiac calcium-handling genes are associated with ventricular arrhythmias in patients with severe cardiomyopathy. Heart Rhythm. 2011;8(5S):S40–1.
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Association of CASQ2 polymorphisms with sudden cardiac arrest and heart failure in patients with coronary artery disease
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PID: 24444446, This study shows that variants in calcium handling genes might lower the threshold for arrhythmias in patients with structural heart disease
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Refaat M, Aouizerat BE, Pullinger CR, et al. Association of CASQ2 polymorphisms with sudden cardiac arrest and heart failure in patients with coronary artery disease. Heart Rhythm. 2014;11(4):646–52. This study shows that variants in calcium handling genes might lower the threshold for arrhythmias in patients with structural heart disease.
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Refaat, M.1
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