Beyond the One Gene–One Disease Paradigm

A common co-morbidity modulates disease expression and treatment efficacy in inherited cardiac sodium channelopathy

(2018) Mathilde R Rivaud et al.   EUROPEAN HEART JOURNAL

Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline

(2018) Ray E. Hershberger et al.   JOURNAL OF CARDIAC FAILURE

Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity

(2018) Sam Chai et al.   JOURNAL OF CLINICAL INVESTIGATION

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

(2018) Richard D. Bagnall et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases

(2018) Marie Verbanck et al.   NATURE GENETICS

OUP accepted manuscript

(2018)   EUROPACE

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

(2018) Stephane E. Castel et al.   NATURE GENETICS

A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy

(2018) Adrien Moreau et al.   Scientific Reports

Use of flecainide in combination antiarrhythmic therapy in patients with arrhythmogenic right ventricular cardiomyopathy

(2017) Simon Ermakov et al.   HEART RHYTHM

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

(2017) Najim Lahrouchi et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Dilated cardiomyopathy

(2017) Robert G Weintraub et al.   LANCET

Arrhythmogenic Right Ventricular Cardiomyopathy

(2017) Domenico Corrado et al.   NEW ENGLAND JOURNAL OF MEDICINE

Plakophilin-2 is required for transcription of genes that control calcium cycling and cardiac rhythm

(2017) Marina Cerrone et al.   Nature Communications

Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy

(2017) Ulrike Esslinger et al.   PLoS One

Response by Crotti et al to Letter Regarding Article, “Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3′ Untranslated Region of KCNQ1?”

(2016) Lia Crotti et al.   Circulation-Cardiovascular Genetics

Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the YoungCLINICAL PERSPECTIVE

(2016) Jason H. Anderson et al.   Circulation-Cardiovascular Genetics

Plakophilin-2 loss promotes TGF-β1/p38 MAPK-dependent fibrotic gene expression in cardiomyocytes

(2016) Adi D. Dubash et al.   JOURNAL OF CELL BIOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Nanoscale visualization of functional adhesion/excitability nodes at the intercalated disc

(2016) Alejandra Leo-Macias et al.   Nature Communications

Response by Crotti et al to Letter Regarding Article, “Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3′ Untranslated Region of KCNQ1?”

(2016) Lia Crotti et al.   Circulation-Cardiovascular Genetics

Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the YoungCLINICAL PERSPECTIVE

(2016) Jason H. Anderson et al.   Circulation-Cardiovascular Genetics

Ultrastructure of the intercellular space in adult murine ventricle revealed by quantitative tomographic electron microscopy

(2015) Alejandra Leo-Macías et al.   CARDIOVASCULAR RESEARCH

Genetics of Sudden Cardiac Death

(2015) C. R. Bezzina et al.   CIRCULATION RESEARCH

Epicardial Ventricular Tachycardia Ablation in a Patient With Brugada ECG Pattern and Mutation of PKP2 and DSP Genes

(2015) M. Forkmann et al.   Circulation-Arrhythmia and Electrophysiology

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

(2015) Iris C.R.M. Kolder et al.   Circulation-Cardiovascular Genetics

Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family MembersCLINICAL PERSPECTIVE

(2015) Judith A. Groeneweg et al.   Circulation-Cardiovascular Genetics

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

(2015) Solena Le Scouarnec et al.   HUMAN MOLECULAR GENETICS

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

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

(2015) Iris C.R.M. Kolder et al.   Circulation-Cardiovascular Genetics

Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family MembersCLINICAL PERSPECTIVE

(2015) Judith A. Groeneweg et al.   Circulation-Cardiovascular Genetics

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

Syndromic and non-syndromic disease-linked Cx43 mutations

(2014) Dale W. Laird   FEBS LETTERS

Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy

(2014) Thomas M. Beckermann et al.   HEART RHYTHM

TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy

(2014) Jeanne L. Theis et al.   HUMAN MOLECULAR GENETICS

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

(2014) Dan E Arking et al.   NATURE GENETICS

Identification of a New Modulator of the Intercalated Disc in a Zebrafish Model of Arrhythmogenic Cardiomyopathy

(2014) A. Asimaki et al.   Science Translational Medicine

Missense Mutations in Plakophilin-2 Cause Sodium Current Deficit and Associate With a Brugada Syndrome Phenotype

(2013) Marina Cerrone et al.   CIRCULATION

The Hippo Pathway Is Activated and Is a Causal Mechanism for Adipogenesis in Arrhythmogenic Cardiomyopathy

(2013) Suet Nee Chen et al.   CIRCULATION RESEARCH

Identification of a KCNQ1 Polymorphism Acting as a Protective Modifier Against Arrhythmic Risk in Long-QT Syndrome

(2013) Sabine Duchatelet et al.   Circulation-Cardiovascular Genetics

A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy

(2013) Benjamin Meder et al.   EUROPEAN HEART JOURNAL

HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes

(2013) Silvia G. Priori et al.   HEART RHYTHM

Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome

(2013) Nikki Earle et al.   HEART RHYTHM

Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs

(2013) Changsung Kim et al.   NATURE

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

(2013) Connie R Bezzina et al.   NATURE GENETICS

Regulation of voltage-dependent calcium channels by RGK proteins

(2012) Tingting Yang et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

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

(2012) Stefania Rizzo et al.   CARDIOVASCULAR RESEARCH

Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency

(2012) Marina Cerrone et al.   CARDIOVASCULAR RESEARCH

Formin Homology 2 Domain Containing 3 Variants Associated With Hypertrophic Cardiomyopathy

(2012) Eric C. Wooten et al.   Circulation-Cardiovascular Genetics

Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy

(2012) Maartje Noorman et al.   HEART RHYTHM

Common genetic variation modulating cardiac ECG parameters and susceptibility to sudden cardiac death

(2012) Iris C.R.M. Kolder et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

R222Q SCN5A Mutation Is Associated With Reversible Ventricular Ectopy and Dilated Cardiomyopathy

(2012) Stefan A. Mann et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Multifocal Ectopic Purkinje-Related Premature Contractions

(2012) Gabriel Laurent et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Rare and common variants: twenty arguments

(2012) Greg Gibson   NATURE REVIEWS GENETICS

Dissection of a Quantitative Trait Locus for PR Interval Duration Identifies Tnni3k as a Novel Modulator of Cardiac Conduction

(2012) Elisabeth M. Lodder et al.   PLoS Genetics

KCNE1D85N polymorphism — a sex-specific modifier in type 1 long QT syndrome?

(2011) Annukka M Lahtinen et al.   BMC Medical Genetics

A Large Candidate Gene Survey Identifies the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes

(2011) Stefan Kääb et al.   Circulation-Cardiovascular Genetics

Variants in the 3′ untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner

(2011) Ahmad S. Amin et al.   EUROPEAN HEART JOURNAL

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy

(2011) Eric Villard et al.   EUROPEAN HEART JOURNAL

SCN5A Mutations Associate With Arrhythmic Dilated Cardiomyopathy and Commonly Localize to the Voltage-Sensing Mechanism

(2011) William P. McNair et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genome partitioning of genetic variation for complex traits using common SNPs

(2011) Jian Yang et al.   NATURE GENETICS

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

(2010) Frank I. Marcus et al.   CIRCULATION

Replication of past candidate loci for common diseases and phenotypes in 100 genome-wide association studies

(2010) Konstantinos C M Siontis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy

(2010) Tianhong Xu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Polymorphisms in the NOS1APGene Modulate QT Interval Duration and Risk of Arrhythmias in the Long QT Syndrome

(2010) Marta Tomás et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The roles of cell adhesion molecules in tumor suppression and cell migration

(2010) Mei Chung Moh et al.   Cell Adhesion & Migration

NOS1AP Is a Genetic Modifier of the Long-QT Syndrome

(2009) Lia Crotti et al.   CIRCULATION

Genetically Determined Differences in Sodium Current Characteristics Modulate Conduction Disease Severity in Mice With Cardiac Sodium Channelopathy

(2009) Carol Ann Remme et al.   CIRCULATION RESEARCH

Loss of Plakophilin-2 Expression Leads to Decreased Sodium Current and Slower Conduction Velocity in Cultured Cardiac Myocytes

(2009) Priscila Y. Sato et al.   CIRCULATION RESEARCH

SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome

(2009) Vincent Probst et al.   Circulation-Cardiovascular Genetics

Catecholaminergic polymorphic ventricular tachycardia: A paradigm to understand mechanisms of arrhythmias associated to impaired Ca2+ regulation

(2009) Marina Cerrone et al.   HEART RHYTHM

D85N, a KCNE1 Polymorphism, Is a Disease-Causing Gene Variant in Long QT Syndrome

(2009) Yukiko Nishio et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

(2009) Arne Pfeufer et al.   NATURE GENETICS

Common variants at ten loci influence QT interval duration in the QTGEN Study

(2009) Christopher Newton-Cheh et al.   NATURE GENETICS

Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans

(2009) Hiroshi Watanabe et al.   NATURE MEDICINE

Tnni3k Modifies Disease Progression in Murine Models of Cardiomyopathy

(2009) Ferrin C. Wheeler et al.   PLoS Genetics

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS

Arrhythmogenic right ventricular dysplasia-cardiomyopathy and provocable coved-type ST-segment elevation in right precordial leads: clues from long-term follow-up

(2008) S. Peters   EUROPACE