List of works - Connie R Bezzina

52 Genetic Loci Influencing Myocardial Mass

scientific article

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

A Heterozygous Deletion Mutation in the Cardiac Sodium Channel Gene SCN5A with Loss- and Gain-of-Function Characteristics Manifests as Isolated Conduction Disease, without Signs of Brugada or Long QT Syndrome ⬇️

scientific article published on June 28, 2013

A connexin40 mutation associated with a malignant variant of progressive familial heart block type I

scientific article

A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes

scientific article published on 18 November 2011

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2

scientific article published on 3 March 2015

Animal models and animal-free innovations for cardiovascular research: current status and routes to be explored. Consensus document of the ESC Working Group on Myocardial Function and the ESC Working Group on Cellular Biology of the Heart

scientific article published in 2022

Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events

scientific article published on 21 March 2019

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

scientific article published on 01 September 2019

Cardiomyocytes derived from pluripotent stem cells recapitulate electrophysiological characteristics of an overlap syndrome of cardiac sodium channel disease

scientific article published on 30 May 2012

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

scientific article published on 10 December 2021

Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction.

scientific article published on 16 January 2006

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

scientific article

Coxsackie and adenovirus receptor is a modifier of cardiac conduction and arrhythmia vulnerability in the setting of myocardial ischemia

scientific article

Developmental aspects of cardiac arrhythmogenesis ⬇️

scientific article published on May 12, 2011

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

scientific article published on 7 September 2020

Erratum: Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

scholarly article published in Nature Genetics

Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6 ⬇️

scientific article published on June 1, 2011

Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation

scientific article published on 29 January 2017

Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci

scientific article published on 20 February 2014

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

scientific article

Genetic control of sodium channel function

scientific article

Genetic predisposition for sudden cardiac death in myocardial ischaemia: the Arrhythmia Genetics in the NEtherlandS study ⬇️

scientific article published on January 28, 2011

Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (I K,ACh)

scientific article published on 09 July 2019

Genetically determined differences in sodium current characteristics modulate conduction disease severity in mice with cardiac sodium channelopathy

scientific article published on 30 April 2009

Genetics of lone atrial fibrillation ⬇️

scientific article published on 07 September 2010

Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes

scientific article (publication date: 2013)

Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction

scientific article

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy

scientific article published in August 2014

Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals

scientific article

Induced pluripotent stem cell derived cardiomyocytes as models for cardiac arrhythmias

scientific article

Intercalated disc abnormalities, reduced Na(+) current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes

scientific article

KCND3 mutations in Brugada syndrome: The plot thickens ⬇️

scientific article published on 09 April 2011

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci

scientific article

Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD

scientific article

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

scientific article published on 17 February 2015

Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome

scientific article

SCN5A Mutation Type and a Genetic Risk Score Associate Variably with Brugada Syndrome Phenotype in SCN5A Families

scientific article published on 09 November 2020

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

scientific article

Subsequent Event Risk in Individuals With Established Coronary Heart Disease

scientific article published on 21 March 2019

Sudden cardiac arrest associated with use of a non-cardiac drug that reduces cardiac excitability: evidence from bench, bedside, and community ⬇️

scientific article published on February 20, 2013

Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation

scientific article published on 24 July 2017

The molecular genetics of arrhythmias

scientific article published on 01 August 2005

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

scientific article

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes

scientific article published on 13 September 2016

List of works by Connie R Bezzina

52 Genetic Loci Influencing Myocardial Mass

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

A Heterozygous Deletion Mutation in the Cardiac Sodium Channel Gene SCN5A with Loss- and Gain-of-Function Characteristics Manifests as Isolated Conduction Disease, without Signs of Brugada or Long QT Syndrome ⬇️

A connexin40 mutation associated with a malignant variant of progressive familial heart block type I

A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2

Animal models and animal-free innovations for cardiovascular research: current status and routes to be explored. Consensus document of the ESC Working Group on Myocardial Function and the ESC Working Group on Cellular Biology of the Heart

Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

Cardiomyocytes derived from pluripotent stem cells recapitulate electrophysiological characteristics of an overlap syndrome of cardiac sodium channel disease

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction.

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Coxsackie and adenovirus receptor is a modifier of cardiac conduction and arrhythmia vulnerability in the setting of myocardial ischemia

Developmental aspects of cardiac arrhythmogenesis ⬇️

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Erratum: Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6 ⬇️

Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation

Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Genetic control of sodium channel function

Genetic predisposition for sudden cardiac death in myocardial ischaemia: the Arrhythmia Genetics in the NEtherlandS study ⬇️

Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (I K,ACh)

Genetically determined differences in sodium current characteristics modulate conduction disease severity in mice with cardiac sodium channelopathy

Genetics of lone atrial fibrillation ⬇️

Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes

Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy

Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals

Induced pluripotent stem cell derived cardiomyocytes as models for cardiac arrhythmias

Intercalated disc abnormalities, reduced Na(+) current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes

KCND3 mutations in Brugada syndrome: The plot thickens ⬇️

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci

Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome

SCN5A Mutation Type and a Genetic Risk Score Associate Variably with Brugada Syndrome Phenotype in SCN5A Families

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

Subsequent Event Risk in Individuals With Established Coronary Heart Disease

Sudden cardiac arrest associated with use of a non-cardiac drug that reduces cardiac excitability: evidence from bench, bedside, and community ⬇️

Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation

The molecular genetics of arrhythmias

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes