Published in Circulation on March 27, 2006
Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Pract Cardiovasc Med (2008) 3.19
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet (2006) 2.26
Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Cardiovasc Genet (2009) 2.19
Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations. Heart Rhythm (2011) 2.11
Molecular composition of the intercalated disc in a spontaneous canine animal model of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Heart Rhythm (2007) 1.70
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet (2006) 1.68
Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutations. Heart Rhythm (2008) 1.67
Arrhythmogenic right ventricular cardiomyopathy/dysplasia. Orphanet J Rare Dis (2007) 1.64
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol (2010) 1.62
Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype. Circulation (2013) 1.61
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies. Circulation (2006) 1.48
Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy. Circ Res (2011) 1.47
Role of cardiovascular magnetic resonance imaging in arrhythmogenic right ventricular dysplasia. J Cardiovasc Magn Reson (2008) 1.45
Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency. Cardiovasc Res (2012) 1.38
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update. Clin Res Cardiol (2011) 1.37
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare "disease of the desmosome" with multiple clinical presentations. Clin Res Cardiol (2009) 1.20
Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations. J Cell Mol Med (2008) 1.18
Loss of αT-catenin alters the hybrid adhering junctions in the heart and leads to dilated cardiomyopathy and ventricular arrhythmia following acute ischemia. J Cell Sci (2012) 1.16
Plakophilins: multifunctional scaffolds for adhesion and signaling. Curr Opin Cell Biol (2009) 1.13
Diseases of epidermal keratins and their linker proteins. Exp Cell Res (2007) 1.13
Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Hum Mutat (2006) 1.13
Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro. BMC Med Genet (2007) 1.11
Desmosomes and the sodium channel complex: implications for arrhythmogenic cardiomyopathy and Brugada syndrome. Trends Cardiovasc Med (2014) 1.06
Lysosomal integral membrane protein 2 is a novel component of the cardiac intercalated disc and vital for load-induced cardiac myocyte hypertrophy. J Exp Med (2007) 1.06
The junctions that don't fit the scheme: special symmetrical cell-cell junctions of their own kind. Cell Tissue Res (2009) 1.03
Arrhythmogenic right ventricular cardiomyopathy: moving toward mechanism. J Clin Invest (2006) 0.99
Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry. Curr Opin Cell Biol (2007) 0.99
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC/D): A Systematic Literature Review. Clin Med Insights Cardiol (2013) 0.97
Arrhythmogenic cardiomyopathy and Brugada syndrome: diseases of the connexome. FEBS Lett (2014) 0.97
Biventricular myocardial strain analysis in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) using cardiovascular magnetic resonance feature tracking. J Cardiovasc Magn Reson (2014) 0.93
Molecular genetics and pathogenesis of arrhythmogenic right ventricular cardiomyopathy: a disease of cardiac stem cells. Pediatr Cardiol (2011) 0.92
Genetics and disease of ventricular muscle. Cold Spring Harb Perspect Med (2014) 0.92
Arrhythmogenic right ventricular cardiomyopathy (ARVC): cardiovascular magnetic resonance update. J Cardiovasc Magn Reson (2014) 0.92
Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management. Neth Heart J (2014) 0.91
Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia. Neth Heart J (2010) 0.91
Arrhythmogenic right ventricular cardiomyopathy is a disease of cardiac stem cells. Curr Opin Cardiol (2010) 0.90
Dysfunction in the βII spectrin-dependent cytoskeleton underlies human arrhythmia. Circulation (2015) 0.90
Assessment of inflammation in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Eur J Nucl Med Mol Imaging (2010) 0.90
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. Hum Genet (2013) 0.90
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy. Eur J Hum Genet (2010) 0.89
Beyond cell adhesion: the role of armadillo proteins in the heart. Cell Signal (2012) 0.89
A new perspective on intercalated disc organization: implications for heart disease. Dermatol Res Pract (2010) 0.89
Relative contribution of changes in sodium current versus intercellular coupling on reentry initiation in 2-dimensional preparations of plakophilin-2-deficient cardiac cells. Heart Rhythm (2011) 0.89
Xin proteins and intercalated disc maturation, signaling and diseases. Front Biosci (Landmark Ed) (2012) 0.88
Mutations with pathogenic potential in proteins located in or at the composite junctions of the intercalated disk connecting mammalian cardiomyocytes: a reference thesaurus for arrhythmogenic cardiomyopathies and for Naxos and Carvajal diseases. Cell Tissue Res (2012) 0.88
Sex-dependent gene regulatory networks of the heart rhythm. Funct Integr Genomics (2009) 0.86
Desmosomal molecules in and out of adhering junctions: normal and diseased States of epidermal, cardiac and mesenchymally derived cells. Dermatol Res Pract (2010) 0.86
Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population. Ann Med (2013) 0.85
Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all. Expert Rev Mol Diagn (2010) 0.85
Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy. BMC Med Genet (2012) 0.84
Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy. J Med Genet (2014) 0.83
The electrocardiographic manifestations of arrhythmogenic right ventricular dysplasia. Curr Cardiol Rev (2014) 0.83
Cardiac Mechano-Gated Ion Channels and Arrhythmias. Circ Res (2016) 0.82
Passive ventricular remodeling in cardiac disease: focus on heterogeneity. Front Physiol (2014) 0.82
Brugada ECG pattern: a physiopathological prospective study based on clinical, electrophysiological, angiographic, and genetic findings. Front Physiol (2012) 0.82
GENCOR: a national registry for patients and families suffering from a familial heart disease in the Netherlands. Neth Heart J (2006) 0.81
Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation. Hum Mol Genet (2014) 0.81
Alterations in cell adhesion proteins and cardiomyopathy. World J Cardiol (2014) 0.80
Recurrent and founder mutations in inherited cardiac diseases in the Netherlands. Neth Heart J (2009) 0.80
Remodeling of cell-cell junctions in arrhythmogenic cardiomyopathy. Cell Commun Adhes (2014) 0.80
Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders. J Am Coll Cardiol (2016) 0.79
Quantitative Immunohistochemistry of Desmosomal Proteins (Plakoglobin, Desmoplakin and Plakophilin), Connexin-43, and N-cadherin in Arrhythmogenic Cardiomyopathy: An Autopsy Study. Open Cardiovasc Med J (2013) 0.78
Plakophilin-2: a cell-cell adhesion plaque molecule of selective and fundamental importance in cardiac functions and tumor cell growth. Cell Tissue Res (2012) 0.78
Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC). Eur J Hum Genet (2013) 0.78
Cardiomyopathies: New test for arrhythmogenic right ventricular cardiomyopathy. Nat Rev Cardiol (2009) 0.78
Genetic factors in arrhythmogenic right ventricular cardiomyopathy: need for a DNA bank! Neth Heart J (2006) 0.78
Clinical screening and genetic testing. Clin Lab Med (2010) 0.77
Arrhythmogenic right ventricular cardiomyopathy: asymptomatic to life threatening as illustrated by the cases of two sisters. Neth Heart J (2007) 0.77
Diseases caused by mutations in Nav1.5 interacting proteins. Card Electrophysiol Clin (2014) 0.77
Recapitulating long-QT syndrome using induced pluripotent stem cell technology. Pediatr Cardiol (2012) 0.77
Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report. BMC Med Genet (2015) 0.76
Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy. Neth Heart J (2012) 0.76
Novel mutations in arrhythmogenic right ventricular cardiomyopathy from Indian population. Indian J Hum Genet (2011) 0.76
Imaging phenotype vs genotype in nonhypertrophic heritable cardiomyopathies: dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. Circ Cardiovasc Imaging (2010) 0.76
Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant. Am J Cardiovasc Dis (2016) 0.75
Familial evaluation for diagnosis of arrhythmogenic right ventricular dysplasia. Cardiology (2011) 0.75
Knockdown of Plakophilin 2 Downregulates miR-184 Through CpG Hypermethylation and Suppression of the E2F1 Pathway and Leads to Enhanced Adipogenesis In Vitro. Circ Res (2016) 0.75
Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis. Sci Rep (2017) 0.75
Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting. Eur J Hum Genet (2016) 0.75
A case of arrhythmogenic right ventricular cardiomyopathy. Can J Cardiol (2008) 0.75
Clinical screening and genetic testing. Heart Fail Clin (2010) 0.75
Potential new mechanisms of pro-arrhythmia in arrhythmogenic cardiomyopathy: focus on calcium sensitive pathways. Neth Heart J (2017) 0.75
A global perspective of arrhythmogenic right ventricular cardiomyopathy. Glob Cardiol Sci Pract (2013) 0.75
A fishing trip to cure arrhythmogenic cardiomyopathy? Ann Transl Med (2015) 0.75
Arrhythmogenic right ventricular cardiomyopathy as lethal complication factor after cardiac surgery. Herz (2009) 0.75
The challenge of diagnosing arrhythmogenic right ventricular cardiomyopathy in the young. Pediatr Cardiol (2008) 0.75
Evidence based selection of housekeeping genes. PLoS One (2007) 7.90
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
Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies. Lancet (2012) 4.63
Proposed diagnostic criteria for the Brugada syndrome: consensus report. Circulation (2002) 3.76
Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. PLoS Genet (2011) 3.65
Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans. Nat Med (2009) 3.35
Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study. Circulation (2005) 3.30
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation (2009) 3.11
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
Thoracoscopic video-assisted pulmonary vein antrum isolation, ganglionated plexus ablation, and periprocedural confirmation of ablation lesions: first results of a hybrid surgical-electrophysiological approach for atrial fibrillation. Circ Arrhythm Electrophysiol (2011) 2.84
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation (2004) 2.82
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
Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction. Circulation (2006) 2.72
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. Circ Res (2002) 2.66
Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol (2009) 2.65
Familial sudden death is an important risk factor for primary ventricular fibrillation: a case-control study in acute myocardial infarction patients. Circulation (2006) 2.63
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol (2002) 2.58
The response of the QT interval to the brief tachycardia provoked by standing: a bedside test for diagnosing long QT syndrome. J Am Coll Cardiol (2010) 2.56
Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system? Eur Heart J (2006) 2.54
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest (2008) 2.54
Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation (2005) 2.42
A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation. Circ Res (2008) 2.39
Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia. N Engl J Med (2008) 2.34
Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future. Hum Mutat (2012) 2.32
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol (2011) 2.31
Genetic variation in SCN10A influences cardiac conduction. Nat Genet (2010) 2.30
Unmasking of brugada syndrome by lithium. Circulation (2005) 2.30
Impact of genetics on the clinical management of channelopathies. J Am Coll Cardiol (2013) 2.30
Clinical aspects and prognosis of Brugada syndrome in children. Circulation (2007) 2.29
Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. J Am Coll Cardiol (2012) 2.28
A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. J Mol Cell Cardiol (2005) 2.21
Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. Am J Hum Genet (2002) 2.17
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
A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ Res (2003) 2.15
Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families. Circ Res (2003) 2.14
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet (2010) 2.12
Inaccessibility to quinidine therapy is about to get worse. J Am Coll Cardiol (2013) 2.12
Continuous vs episodic prophylactic treatment with amiodarone for the prevention of atrial fibrillation: a randomized trial. JAMA (2008) 2.09
Activation delay and VT parameters in arrhythmogenic right ventricular dysplasia/cardiomyopathy: toward improvement of diagnostic ECG criteria. J Cardiovasc Electrophysiol (2008) 2.09
Pathophysiological mechanisms of Brugada syndrome: depolarization disorder, repolarization disorder, or more? Cardiovasc Res (2005) 2.06
Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment? J Am Coll Cardiol (2010) 2.06
C. elegans model identifies genetic modifiers of alpha-synuclein inclusion formation during aging. PLoS Genet (2008) 2.03
Brugada syndrome. Circ Arrhythm Electrophysiol (2012) 2.03
Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma. Cancer Res (2010) 2.03
Con: Newborn screening to prevent sudden cardiac death? Heart Rhythm (2006) 2.02
Determination of TP53 mutation is more relevant than microsatellite instability status for the prediction of disease-free survival in adjuvant-treated stage III colon cancer patients. J Clin Oncol (2005) 2.01
Role of programmed ventricular stimulation in patients with Brugada syndrome: a meta-analysis of worldwide published data. Eur Heart J (2007) 1.98
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. Am J Hum Genet (2012) 1.96
The Brugada ECG pattern: a marker of channelopathy, structural heart disease, or neither? Toward a unifying mechanism of the Brugada syndrome. Circ Arrhythm Electrophysiol (2010) 1.96
Effects of right bundle branch block on the antidromic circus movement tachycardia in patients with presumed atriofascicular pathways. J Cardiovasc Electrophysiol (2006) 1.94
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. Circ Cardiovasc Genet (2015) 1.94
The entirely subcutaneous implantable cardioverter-defibrillator: initial clinical experience in a large Dutch cohort. J Am Coll Cardiol (2012) 1.93
Permanent leadless cardiac pacing: results of the LEADLESS trial. Circulation (2014) 1.93
Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org). Heart Rhythm (2009) 1.92
Incidence, causes, and outcomes of out-of-hospital cardiac arrest in children. A comprehensive, prospective, population-based study in the Netherlands. J Am Coll Cardiol (2011) 1.92
Electrocardiographic changes predicting sudden death in propofol-related infusion syndrome. Heart Rhythm (2006) 1.91
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
Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy. Heart Rhythm (2012) 1.91
Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies. Heart Rhythm (2006) 1.90
A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization. Cardiovasc Res (2003) 1.89
A new ECG sign of proximal LAD occlusion. N Engl J Med (2008) 1.89
Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia. J Am Coll Cardiol (2011) 1.89
Survival-related profile, pathways, and transcription factors in ovarian cancer. PLoS Med (2009) 1.88
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. Heart Rhythm (2010) 1.85
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum Mutat (2013) 1.85
A calcium sensor in the sodium channel modulates cardiac excitability. Nature (2002) 1.83
Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. Circ Res (2003) 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
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. Heart Rhythm (2009) 1.78
Long-term prognosis of individuals with right precordial ST-segment-elevation Brugada syndrome. Circulation (2005) 1.78
Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD. Circulation (2006) 1.76
Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation. Heart Rhythm (2010) 1.76
Chest pain in the emergency room: a multicenter validation of the HEART Score. Crit Pathw Cardiol (2010) 1.74
Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. Circulation (2007) 1.74