Published in Circulation on October 04, 2004
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Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy. Neurology (2008) 2.21
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nat Genet (2015) 1.76
Altered intracellular Ca2+ handling in heart failure. J Clin Invest (2005) 1.70
Protein kinase C downregulates I(Ks) by stimulating KCNQ1-KCNE1 potassium channel endocytosis. Heart Rhythm (2011) 1.55
A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation. Heart Rhythm (2013) 1.46
Localization of a disease-associated mutation site in the three-dimensional structure of the cardiac muscle ryanodine receptor. J Biol Chem (2005) 1.32
Three-dimensional localization of serine 2808, a phosphorylation site in cardiac ryanodine receptor. J Biol Chem (2007) 1.24
Kv7.1 ion channels require a lipid to couple voltage sensing to pore opening. Proc Natl Acad Sci U S A (2013) 1.18
Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels. J Clin Invest (2005) 1.13
Ryanodine receptor-mediated arrhythmias and sudden cardiac death. Pharmacol Ther (2009) 1.08
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Dynamic, inter-subunit interactions between the N-terminal and central mutation regions of cardiac ryanodine receptor. J Cell Sci (2010) 1.07
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet (2015) 1.03
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. Circ Arrhythm Electrophysiol (2009) 0.95
Long QT syndrome in South Africa: the results of comprehensive genetic screening. Cardiovasc J Afr (2013) 0.94
Screening children with a family history of sudden cardiac death. Heart (2006) 0.92
Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases. Int J Legal Med (2011) 0.90
Genetic screening in sudden cardiac death in the young can save future lives. Int J Legal Med (2015) 0.90
Unexplained drownings and the cardiac channelopathies: a molecular autopsy series. Mayo Clin Proc (2011) 0.89
Personalized biochemistry and biophysics. Biochemistry (2015) 0.88
Molecular remodeling of ion channels, exchangers and pumps in atrial and ventricular myocytes in ischemic cardiomyopathy. Channels (Austin) (2010) 0.86
High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation. Biochemistry (2012) 0.79
[Ion channel diseases in children]. Herzschrittmacherther Elektrophysiol (2014) 0.79
Genotype-specific QT correction for heart rate and the risk of life-threatening cardiac events in adolescents with congenital long-QT syndrome. Heart Rhythm (2011) 0.78
Structural insights into the human RyR2 N-terminal region involved in cardiac arrhythmias. Acta Crystallogr D Biol Crystallogr (2014) 0.78
LQT1 mutations in KCNQ1 C-terminus assembly domain suppress IKs using different mechanisms. Cardiovasc Res (2014) 0.77
Citalopram-Induced Long QT Syndrome and the Mammalian Dive Reflex. Drug Saf Case Rep (2015) 0.77
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. BMC Med Genet (2014) 0.76
Molecular pathogenesis of long QT syndrome type 1. J Arrhythm (2016) 0.75
Risk stratification in young patients with channelopathies. Indian Pacing Electrophysiol J (2010) 0.75
Evaluation and Management of Athletes With Long QT Syndrome: An Evolved Paradigm. Sports Health (2016) 0.75
Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. J Cardiovasc Dis Res (2012) 0.75
Management of Patients with Long QT Syndrome. Korean Circ J (2016) 0.75
Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T). HeartRhythm Case Rep (2016) 0.75
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia. Mol Genet Genomic Med (2017) 0.75
Adult Ventricular Myocytes Segregate KCNQ1 and KCNE1 to Keep the IKs Amplitude in Check Until When Larger IKs Is Needed. Circ Arrhythm Electrophysiol (2017) 0.75
Congenital long-QT syndrome in Addison's disease: a novel association. Pediatr Cardiol (2012) 0.75
Prominent QTc prolongation in a patient with a rare variant in the cardiac ryanodine receptor gene. Heart Vessels (2016) 0.75
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
Engineering and algorithm design for an image processing Api: a technical report on ITK--the Insight Toolkit. Stud Health Technol Inform (2002) 4.65
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
Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm (2004) 3.15
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
Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc (2003) 2.69
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
Prevention of torsade de pointes in hospital settings: a scientific statement from the American Heart Association and the American College of Cardiology Foundation. Circulation (2010) 2.49
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 and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. J Am Coll Cardiol (2002) 2.02
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. Heart Rhythm (2008) 2.01
Long QT syndrome-associated mutations in intrauterine fetal death. JAMA (2013) 2.00
A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors. Heart Rhythm (2007) 1.98
Diagnostic miscues in congenital long-QT syndrome. Circulation (2007) 1.97
Considerations on safety concerns about citalopram prescribing. Mayo Clin Proc (2012) 1.97
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. J Am Coll Cardiol (2012) 1.97
A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine. Cardiovasc Res (2002) 1.96
Epinephrine-induced QT interval prolongation: a gene-specific paradoxical response in congenital long QT syndrome. Mayo Clin Proc (2002) 1.95
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
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome. J Cardiovasc Electrophysiol (2006) 1.88
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