Associated Papers
Exceptionally selective voltage-sensor trapping of NaV1.5 channels by Mg-protoporphyrin impairs cancer cell migration.
Jamili M et al.
Scientific Reports, 2026
Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.
Kuehn JC et al.
Npj Precision Oncology, 2024
In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.
Pham HM et al.
Molecular Genetics & Genomic Medicine, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Characterization of the novel heterozygous SCN5A genetic variant Y739D associated with Brugada syndrome.
Zaytseva AK et al.
Biochemistry and Biophysics Reports, 2022
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
High-Throughput Reclassification of SCN5A Variants.
Glazer AM et al.
American Journal of Human Genetics, 2020
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.
Ware JS et al.
Journal of Cardiovascular Translational Research, 2013
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010
Arrhythmogenic right ventricular dysplasia-cardiomyopathy and provocable coved-type ST-segment elevation in right precordial leads: clues from long-term follow-up.
Peters S
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2008