Published in Heart Rhythm on July 01, 2004
The Twiddling Andersen. Tex Heart Inst J (2009) 1.37
Kir 2.1 channelopathies: the Andersen-Tawil syndrome. Pflugers Arch (2010) 1.09
Andersen-Tawil syndrome. Indian Pacing Electrophysiol J (2006) 0.97
Resuscitated sudden cardiac death in Andersen-Tawil syndrome. Heart Rhythm (2009) 0.88
Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome. Curr Cardiol Rev (2014) 0.82
KCNJ2 mutation causes an adrenergic-dependent rectification abnormality with calcium sensitivity and ventricular arrhythmia. Heart Rhythm (2014) 0.81
Bidirectional ventricular tachycardia of unusual etiology. Indian Pacing Electrophysiol J (2016) 0.75
Polymorphic ventricular tachycardia associated with mutations in KCNJ2. Heart Rhythm (2004) 0.75
Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med (2014) 5.11
Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation (2007) 4.10
PiggyBac transposon-mediated gene transfer in human cells. Mol Ther (2007) 4.07
Molecular basis of an inherited epilepsy. Neuron (2002) 3.77
Comparison of magnetic resonance feature tracking for strain calculation with harmonic phase imaging analysis. JACC Cardiovasc Imaging (2010) 3.50
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest (2002) 3.33
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest (2003) 3.00
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation (2002) 2.98
Extracellular matrix remodeling and organization in developing and diseased aortic valves. Circ Res (2006) 2.91
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. Circulation (2005) 2.78
Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation (2013) 2.66
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation (2008) 2.56
Pharmacogenetics of long-term responses to antiretroviral regimens containing Efavirenz and/or Nelfinavir: an Adult Aids Clinical Trials Group Study. J Infect Dis (2005) 2.43
Impact of genetics on the clinical management of channelopathies. J Am Coll Cardiol (2013) 2.30
Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation (2007) 2.28
Hypoplastic left heart syndrome is heritable. J Am Coll Cardiol (2007) 2.24
Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel. Biochemistry (2008) 2.22
Bicuspid aortic valve is heritable. J Am Coll Cardiol (2004) 2.18
Hypoplastic left heart syndrome: current considerations and expectations. J Am Coll Cardiol (2012) 2.10
NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol (2003) 2.09
The succinate receptor GPR91 in neurons has a major role in retinal angiogenesis. Nat Med (2008) 2.08
Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. J Am Soc Nephrol (2008) 2.04
Genotype-phenotype associations for common CYP3A4 and CYP3A5 variants in the basal and induced metabolism of midazolam in European- and African-American men and women. Pharmacogenetics (2003) 2.03
Success rates in pediatric WPW ablation are improved with 3-dimensional mapping systems compared with fluoroscopy alone: a multicenter study. J Cardiovasc Electrophysiol (2015) 2.01
Long QT syndrome-associated mutations in intrauterine fetal death. JAMA (2013) 2.00
NOS1AP is a genetic modifier of the long-QT syndrome. Circulation (2009) 2.00
Trans-arachidonic acids generated during nitrative stress induce a thrombospondin-1-dependent microvascular degeneration. Nat Med (2005) 1.91
Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome. J Am Coll Cardiol (2008) 1.91
Cardiac ion channels. Annu Rev Physiol (2002) 1.90
Genetic interaction between members of the Vangl family causes neural tube defects in mice. Proc Natl Acad Sci U S A (2008) 1.90
Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. J Am Coll Cardiol (2009) 1.88
Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies. Cardiovasc Res (2004) 1.80
Myotonia congenita. Adv Genet (2008) 1.80
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J Neurosci (2003) 1.77
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation (2005) 1.77
Circumferential strain analysis identifies strata of cardiomyopathy in Duchenne muscular dystrophy: a cardiac magnetic resonance tagging study. J Am Coll Cardiol (2009) 1.74
Spectrum of heart disease associated with murine and human GATA4 mutation. J Mol Cell Cardiol (2007) 1.71
Expression of multiple KCNE genes in human heart may enable variable modulation of I(Ks). J Mol Cell Cardiol (2005) 1.70
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest (2008) 1.69
Transcription factors and congenital heart defects. Annu Rev Physiol (2006) 1.66
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation (2002) 1.65
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci U S A (2004) 1.65
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 1.63
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet (2002) 1.60
A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome. Heart Rhythm (2008) 1.59
Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol (2012) 1.58
Multiplexed transposon-mediated stable gene transfer in human cells. Proc Natl Acad Sci U S A (2010) 1.57
Risk factors for aortic valve disease in bicuspid aortic valve: a family-based study. Am J Med Genet A (2011) 1.55
Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel. Circ Arrhythm Electrophysiol (2008) 1.53
Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation. Heart Rhythm (2012) 1.51
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet (2002) 1.51
A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Circ Cardiovasc Genet (2011) 1.48
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. Circulation (2005) 1.48
ACC/AHA/AAP recommendations for training in pediatric cardiology. Pediatrics (2005) 1.46
Inappropriate ICD discharges in single-chamber versus dual-chamber devices in the pediatric and young adult population. J Cardiovasc Electrophysiol (2008) 1.45
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest (2003) 1.41
Outpatient continuous inotrope infusion as an adjunct to heart failure therapy in Duchenne muscular dystrophy. Neuromuscul Disord (2006) 1.40
Mouse heart valve structure and function: echocardiographic and morphometric analyses from the fetus through the aged adult. Am J Physiol Heart Circ Physiol (2008) 1.40
Circadian and seasonal variation of malignant arrhythmias in a pediatric and congenital heart disease population. J Cardiovasc Electrophysiol (2002) 1.39
Structural models for the KCNQ1 voltage-gated potassium channel. Biochemistry (2007) 1.38
Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro. Circulation (2011) 1.38
Rare copy number variants contribute to congenital left-sided heart disease. PLoS Genet (2012) 1.35
Preparation, functional characterization, and NMR studies of human KCNE1, a voltage-gated potassium channel accessory subunit associated with deafness and long QT syndrome. Biochemistry (2007) 1.35
Functional zinc finger/sleeping beauty transposase chimeras exhibit attenuated overproduction inhibition. FEBS Lett (2005) 1.35
The genetic basis of variability in drug responses. Nat Rev Drug Discov (2002) 1.34
Magnetic resonance derived myocardial strain assessment using feature tracking. J Vis Exp (2011) 1.32
Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption. Hum Hered (2007) 1.30
Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. Hum Genet (2007) 1.28
Loss of Gata5 in mice leads to bicuspid aortic valve. J Clin Invest (2011) 1.28
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. Circ Cardiovasc Genet (2014) 1.27
Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. Circ Res (2014) 1.27
Improved DNA sequencing quality and efficiency using an optimized fast cycle sequencing protocol. Biotechniques (2007) 1.26
The Kruppel-like transcription factor KLF13 is a novel regulator of heart development. EMBO J (2006) 1.25
Mutant prenyltransferase-like mitochondrial protein (PLMP) and mitochondrial abnormalities in kd/kd mice. Kidney Int (2004) 1.24
Molecular, functional, and genomic characterization of human KCC2, the neuronal K-Cl cotransporter. Brain Res Mol Brain Res (2002) 1.24
Fetal heart rate predictors of long QT syndrome. Circulation (2012) 1.24
Nucleotides and phospholipids compete for binding to the C terminus of KATP channels. Proc Natl Acad Sci U S A (2002) 1.23
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nat Genet (2013) 1.23
Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia. Circ Res (2007) 1.23