Published in Circulation on March 08, 2011
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Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin Proc (2008) 2.80
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Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol (2006) 2.59
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Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. J Am Coll Cardiol (2009) 2.14
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Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. Heart Rhythm (2004) 2.05
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Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. Heart Rhythm (2010) 1.89
A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ Cardiovasc Genet (2009) 1.87
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Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm (2005) 1.85
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Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutations. Mayo Clin Proc (2006) 1.26
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Role of genetic analyses in cardiology: part I: mendelian diseases: cardiac channelopathies. Circulation (2006) 1.02
Therapeutic strategies for long-QT syndrome: does the molecular substrate matter? Circ Arrhythm Electrophysiol (2008) 1.02
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Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J (2008) 0.99
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Genetic testing for cardiac channelopathies: ten questions regarding clinical considerations for heart rhythm allied professionals. Heart Rhythm (2005) 0.91
Recent developments in health law. The Genetic Information Nondiscrimination Act of 2008: "First major Civil Rights bill of the century" bars misuse of genetic test results. J Law Med Ethics (2008) 0.91
Postmortem genetic testing for conventional autopsy-negative sudden unexplained death: an evaluation of different DNA extraction protocols and the feasibility of mutational analysis from archival paraffin-embedded heart tissue. Am J Clin Pathol (2008) 0.89
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Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome. J Cardiovasc Electrophysiol (2009) 0.85
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Truncations of titin causing dilated cardiomyopathy. N Engl J Med (2012) 6.07
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm (2009) 4.99
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Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm (2005) 4.21
Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy. Circulation (2008) 3.77
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation (2006) 3.50
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet (2007) 3.47
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol (2004) 3.47
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation (2006) 3.23
Left cardiac sympathetic denervation for the treatment of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia using video-assisted thoracic surgery. Heart Rhythm (2009) 3.14
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation (2009) 3.11
Long QT syndrome in adults. J Am Coll Cardiol (2007) 2.93
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation (2007) 2.88
Anesthesia for patients with congenital long QT syndrome. Anesthesiology (2005) 2.85
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm (2009) 2.81
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin Proc (2008) 2.80
Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci U S A (2008) 2.79
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. Mol Genet Metab (2005) 2.72
Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol (2009) 2.65
Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol (2006) 2.59
Stroke or transient ischemic attack in patients with transvenous pacemaker or defibrillator and echocardiographically detected patent foramen ovale. Circulation (2013) 2.56
Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation (2007) 2.50
Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc Natl Acad Sci U S A (2007) 2.49
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Long-term effects of surgical septal myectomy on survival in patients with obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol (2005) 2.43
SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation (2007) 2.42
Prevention of torsade de pointes in hospital settings: a scientific statement from the American Heart Association and the American College of Cardiology Foundation. J Am Coll Cardiol (2010) 2.41
Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc (2004) 2.40
Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome. Circulation (2008) 2.40
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol (2011) 2.31
Impact of genetics on the clinical management of channelopathies. J Am Coll Cardiol (2013) 2.30
Return to play? Athletes with congenital long QT syndrome. Br J Sports Med (2012) 2.26
Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. Heart Rhythm (2011) 2.26
Does low-dose droperidol administration increase the risk of drug-induced QT prolongation and torsade de pointes in the general surgical population? Anesthesiology (2007) 2.23
Disrupted junctional membrane complexes and hyperactive ryanodine receptors after acute junctophilin knockdown in mice. Circulation (2011) 2.21
Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm (2005) 2.18
Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. J Am Coll Cardiol (2011) 2.15
Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. J Am Coll Cardiol (2009) 2.14
Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome. JAMA (2006) 2.12
Potential depot medroxyprogesterone acetate-triggered torsades de pointes in a case of congenital type 2 long QT syndrome. Heart Rhythm (2012) 2.09
Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy. Circulation (2002) 2.07
A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circ Res (2003) 2.07
Does low-dose droperidol increase the risk of polymorphic ventricular tachycardia or death in the surgical patient? Anesthesiology (2013) 2.06
Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. Heart Rhythm (2004) 2.05
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. Heart Rhythm (2008) 2.01
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A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine. Cardiovasc Res (2002) 1.96
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 (2013) 1.93
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet (2012) 1.91
Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. Circulation (2012) 1.89
Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. Heart Rhythm (2010) 1.89
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Characteristics and clinical significance of late gadolinium enhancement by contrast-enhanced magnetic resonance imaging in patients with hypertrophic cardiomyopathy. Circ Heart Fail (2009) 1.87
Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome. Heart Rhythm (2008) 1.87
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. Heart Rhythm (2006) 1.87
Institution-wide QT alert system identifies patients with a high risk of mortality. Mayo Clin Proc (2013) 1.87
Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm (2005) 1.85
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol (2004) 1.83
Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation (2004) 1.82
Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: higher recurrence of events under metoprolol. J Am Coll Cardiol (2012) 1.81
Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy. J Am Coll Cardiol (2009) 1.81
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Catecholamine-induced T-wave lability in congenital long QT syndrome: a novel phenomenon associated with syncope and cardiac arrest. Mayo Clin Proc (2003) 1.79
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Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation. Heart Rhythm (2010) 1.76
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. Heart Rhythm (2006) 1.74
Long-QT syndrome after age 40. Circulation (2008) 1.73
Effect of clinical phenotype on yield of long QT syndrome genetic testing. J Am Coll Cardiol (2006) 1.73
Sudden infant death syndrome-associated mutations in the sodium channel beta subunits. Heart Rhythm (2010) 1.72
R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. Heart Rhythm (2010) 1.71
Long QT syndrome and pregnancy. J Am Coll Cardiol (2007) 1.71
Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. J Mol Cell Cardiol (2007) 1.70
Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc (2012) 1.70
Prevention of sudden cardiac death with implantable cardioverter-defibrillators in children and adolescents with hypertrophic cardiomyopathy. J Am Coll Cardiol (2013) 1.65
Sarcomeric genotyping in hypertrophic cardiomyopathy. Mayo Clin Proc (2005) 1.65
Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. J Thorac Cardiovasc Surg (2007) 1.64
A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia. Cardiovasc Res (2007) 1.64
Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. Circulation (2007) 1.64
Risk of death in the long QT syndrome when a sibling has died. Heart Rhythm (2008) 1.64
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Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. Circulation (2003) 1.62
Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. Circ Cardiovasc Genet (2013) 1.62
Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. Heart Rhythm (2006) 1.61
Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response. Circulation (2006) 1.60
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. J Cardiovasc Electrophysiol (2013) 1.60
Sudden infant death syndrome: how significant are the cardiac channelopathies? Cardiovasc Res (2005) 1.60
Risk factors for recurrent syncope and subsequent fatal or near-fatal events in children and adolescents with long QT syndrome. J Am Coll Cardiol (2011) 1.59
The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification. Circulation (2007) 1.58
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation (2004) 1.58
The molecular autopsy: should the evaluation continue after the funeral? Pediatr Cardiol (2012) 1.57
A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation. Physiol Genomics (2003) 1.56