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List of works by Ryan Pfeiffer

A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype

scientific article

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

scientific article published on 7 December 2011

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

scientific article published on 04 January 2014

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

scientific article published in May 2009

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

scientific article

Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay.

scientific article

Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome.

scientific article

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

scientific article

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

scientific article

Mutation in Nav1.5 Associated with Brugada Syndrome - a Mutational Hotspot?

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

scientific article

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

scientific article

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

scientific article published in December 2010

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