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A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence

Journal of the American College of Cardiology, 2014-01, Vol.63 (3), p.259-266

2014

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The Brugada Syndrome Susceptibility Gene HEY2 Modulates Cardiac Transmural Ion Channel Patterning and Electrical Heterogeneity

Circulation research, 2017-08, Vol.121 (5), p.537-548

2017

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

Circulation. Cardiovascular genetics, 2009-12, Vol.2 (6), p.552-557

2009

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PDZ Domain-Binding Motif Regulates Cardiomyocyte Compartment-Specific Nav1.5 Channel Expression and Function

Circulation (New York, N.Y.), 2014-07, Vol.130 (2), p.147-160

2014

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Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line

Stem cell research, 2024-06, Vol.77, p.103396, Article 103396

2024

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Sex matters? Sex matters

Cardiovascular research, 2022-01, Vol.118 (1), p.e1-e3

2022

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Scientists on the Spot: Tracing the potential in electrophysiology

Cardiovascular research, 2022-01, Vol.118 (1), p.e6-e7

2022

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Generation of human induced pluripotent stem cell lines from four unrelated healthy control donors carrying European genetic background

Stem cell research, 2022-03, Vol.59, p.102647-102647, Article 102647

2022

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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison

Frontiers in pharmacology, 2016-01, Vol.6, p.314-314

2016

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Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death

Journal of the American College of Cardiology, 2017-03, Vol.69 (12), p.1642-1643

2017

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FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells

STAR protocols, 2022-12, Vol.3 (4), p.101680-101680, Article 101680

2022

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A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity

Clinical and translational medicine, 2021-11, Vol.11 (11), p.e609-n/a

2021

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A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype

Clinical and translational medicine, 2021-06, Vol.11 (6), p.e413-n/a

2021

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Role of Rare and Common Genetic Variation in SCN5A in Cardiac Electrical Function and Arrhythmia

Cardiac electrophysiology clinics, 2014-12, Vol.6 (4), p.665-677

2014

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From polygenic risk scores to integrative epigenomics: the dawn of a new era for cardiovascular precision medicine

Cardiovascular research, 2021-05, Vol.117 (6), p.e73-e75

2021

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USING GENETIC APPROACHES TO UNRAVEL THE RELATIONSHIP BETWEEN SCHIZOPHRENIA AND ARRHYTHMIC DISORDERS

European neuropsychopharmacology, 2022-10, Vol.63, p.e160

2022

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Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Nature genetics, 2022-03, Vol.54 (3), p.232-239

2022

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Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

Circulation (New York, N.Y.), 2020-07, Vol.142 (4), p.324-338

2020

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Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome

Journal of the American College of Cardiology, 2011-01, Vol.57 (1), p.40-47

2011

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HCN4 Mutations in Multiple Families With Bradycardia and Left Ventricular Noncompaction Cardiomyopathy

Journal of the American College of Cardiology, 2014-08, Vol.64 (8), p.745-756

2014

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KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Nature genetics, 2012-04, Vol.44 (4), p.456-460

2012

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Multimodality imaging and transcriptomics to phenotype mitral valve dystrophy in a unique knock-in Filamin-A rat model

Cardiovascular research, 2023-05, Vol.119 (3), p.759-771

2023

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PDZ Domain–Binding Motif Regulates Cardiomyocyte Compartment-Specific Na V 1.5 Channel Expression and Function

Circulation (New York, N.Y.), 2014-07, Vol.130 (2), p.147-160

2014

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A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence

The Brugada Syndrome Susceptibility Gene HEY2 Modulates Cardiac Transmural Ion Channel Patterning and Electrical Heterogeneity

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

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

PDZ Domain-Binding Motif Regulates Cardiomyocyte Compartment-Specific Nav1.5 Channel Expression and Function

Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line

Sex matters? Sex matters

Scientists on the Spot: Tracing the potential in electrophysiology

Generation of human induced pluripotent stem cell lines from four unrelated healthy control donors carrying European genetic background

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison

Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death

FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells

A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity

A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype

Role of Rare and Common Genetic Variation in SCN5A in Cardiac Electrical Function and Arrhythmia

From polygenic risk scores to integrative epigenomics: the dawn of a new era for cardiovascular precision medicine

USING GENETIC APPROACHES TO UNRAVEL THE RELATIONSHIP BETWEEN SCHIZOPHRENIA AND ARRHYTHMIC DISORDERS

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome

HCN4 Mutations in Multiple Families With Bradycardia and Left Ventricular Noncompaction Cardiomyopathy

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

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

Multimodality imaging and transcriptomics to phenotype mitral valve dystrophy in a unique knock-in Filamin-A rat model

PDZ Domain–Binding Motif Regulates Cardiomyocyte Compartment-Specific Na V 1.5 Channel Expression and Function

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