R. Pfeiffer

发表

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

T. Werge, P. Ellinor, S. Priori, 2020, Circulation.

Running title: Genome-wide association study in long QT syndrome

T. Werge, P. Ellinor, S. Priori, 2020 .

A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased CaV1.2 Channel Window Current, and Arrhythmogenesis

C. Antzelevitch, D. Tester, M. Ackerman, 2014, PloS one.

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

Martin Borggrefe, Ryan Pfeiffer, Dan Hu, 2010, Heart rhythm.

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

J. Towbin, J. Brugada, R. Brugada, 2010, Heart rhythm.

A Mutation in the β3 Subunit of the Cardiac Sodium Channel Associated With Brugada ECG Phenotype

C. Antzelevitch, J. Cordeiro, G. Pollevick, 2009, Circulation. Cardiovascular genetics.

Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death

Michel Haïssaguerre, Antonio Oliva, Martin Borggrefe, 2007, Circulation.

Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes

Jacqueline A. Treat, C. Antzelevitch, J. Cordeiro, 2020, Stem cells international.

Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.

S. Viskin, C. Antzelevitch, M. Borggrefe, 2014, Journal of the American College of Cardiology.

High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia.

C. Antzelevitch, Elena Burashnikov, C. Hasdemir, 2015, Heart rhythm.

Overlap Arrhythmia Syndromes Resulting from Multiple Genetic Variations Studied in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes

Jacqueline A. Treat, J. Cordeiro, R. Goodrow, 2021, International journal of molecular sciences.

The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome.

J. Healey, S. Priori, A. Mazzanti, 2017, JACC. Clinical electrophysiology.

Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome.

Ryan Pfeiffer, Charles Antzelevitch, Jonathan M Cordeiro, 2009, Journal of molecular and cellular cardiology.

ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene.

C. Antzelevitch, M. Borggrefe, A. Terzic, 2014, International journal of cardiology.

Dual Variation in SCN5A and CACNB2b Underlies the Development of Cardiac Conduction Disease without Brugada Syndrome

Ryan Pfeiffer, Dan Hu, Charles Antzelevitch, 2010, Pacing and clinical electrophysiology : PACE.

Molecular Pathophysiology of Cardiac Injury and Cardiac Microthrombi in Fatal COVID-19: Insights from Clinico-histopathologic and Single Nuclei RNA Sequencing Analyses

D. Burkhoff, N. Uriel, J. Moses, 2021, bioRxiv.

Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A.

C. Antzelevitch, J. Cordeiro, K. Calloe, 2011, Canadian journal of physiology and pharmacology.

Mutations in the Cardiac L-Type Calcium Channel Associated with Inherited Sudden Cardiac Death Syndromes

S. Viskin, C. Antzelevitch, M. Borggrefe, 2010 .

Atrial fibrillation associated with Wolff-Parkinson-White syndrome in a patient with concomitant Brugada syndrome

Hong Jiang, Shao-bo Shi, Tao Liu, 2017, HeartRhythm case reports.

Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect

C. Antzelevitch, M. Borggrefe, C. Wolpert, 2016, Journal of the American Heart Association.

Brugada-Like Syndrome in Infancy Presenting With Rapid Ventricular Tachycardia and Intraventricular Conduction Delay

C. Antzelevitch, M. Carboni, R. Kanter, 2012, Circulation.

Compound Heterozygous Mutations P336L and I1660V in the Human Cardiac Sodium Channel Associated With the Brugada Syndrome

J. Brugada, R. Brugada, C. Antzelevitch, 2006, Circulation.

Abstract 1929: Mutations in the Cardiac L-Type Calcium Channel Associated With Four Sudden Cardiac Death Syndromes

S. Viskin, C. Antzelevitch, M. Borggrefe, 2009 .

A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents.

P. Schwartz, C. Antzelevitch, M. Borggrefe, 2012, Heart rhythm.

Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2.

Martin Borggrefe, Ryan Pfeiffer, Charles Antzelevitch, 2010, Canadian journal of physiology and pharmacology.

utations in the cardiac L-type calcium channel ssociated with inherited J-wave syndromes and sudden ardiac death

S. Viskin, M. Borggrefe, K. Nademanee, 2022 .

Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome Running title: Genome-wide association study in long QT syndrome

T. Werge, P. Ellinor, S. Priori, 2020 .

A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased CaV1.2 Channel Window Current, and Arrhythmogenesis

C. Antzelevitch, D. Tester, Yong-hui Jiang, 2014, PloS one.