Cardiac electrophysiology and arrhythmias

This study identifies pathogenic sodium channel variants in SUDP patients and shows they cluster at conserved amino acid sites across the SCN gene family.

This study shows that SK4 channels contribute to atrial fibrillation vulnerability in a canine acute stroke model, and their inhibition reduces AF inducibility.

This paper develops a multiscale computational model to predict cardiotoxicity from drug chemistry to cardiac rhythm, validated using clinical data and showing high predictive accuracy for arrhythmia vulnerability.

This study shows that O-GlcNAcylation and oxidative stress via CaMKII contribute to atrial fibrillation in type 1 and type 2 diabetes through distinct mechanisms.

The paper identifies straightjacket/α2δ3 deregulation as a contributor to cardiac conduction defects in DM1 by showing its overexpression in fly models and human patients.

The paper examines how sex and underlying disease influence the genetic link between prolonged QT interval and sudden cardiac death risk using logistic regression and Mendelian randomization.

The paper performs a deep mutational scan of SCN5A variants to assess their functional impact, identifying 40 gain and 33 loss of function variants with high accuracy.

The paper introduces a comb algorithm to accurately detect calcium transients and action potentials in cardiac data with regular activation patterns.

The paper identifies a compound SCN5A mutation R965C-R1309H in a family with arrhythmia syndrome, showing it causes more severe sodium channel dysfunction than either mutation alone.

The paper identifies genetic variants in SCN5A and its regulatory regions in a Brugada syndrome family, suggesting non-coding variants may contribute to disease through miRNA regulation.

This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.

This study conducts a GWAS on QRS duration in Hispanic/Latino populations, identifying two new loci and confirming most previously known SNPs.

This study identifies a genome-wide significant association between a variant in the KCND3 gene and early repolarization pattern on ECG, suggesting a genetic basis for this trait.

The paper explains how pacing frequency affects early afterdepolarizations in cardiomyocytes using slow/fast analysis of a minimal model, revealing canard dynamics and their implications for arrhythmias.

This study investigates how electrical wave propagation occurs in highly fibrotic cardiac tissue using an in vitro-in silico approach, revealing that self-organized networks of cardiomyocytes sustain conduction despite high fibrosis.

The paper develops a Bayesian method to estimate penetrance of disease-associated variants using sparse data and applies it to SCN5A variants in Brugada syndrome.

This study develops a CNN-RNN deep learning method to automatically detect irregular rhythms and abnormal waveforms in field potentials from human iPSC-derived cardiomyocytes.

This study identifies a novel TTN mutation causing autosomal dominant atrioventricular block in a Chinese family through whole-exome sequencing and co-segregation analysis.

This study evaluates KCNQ1 variants using high-throughput electrophysiology, classifying 70% of unstudied variants and showing allele frequency is not a reliable predictor of function.

This study identifies 111 genetic loci and 163 risk variants associated with atrial fibrillation using a GWAS of over 1 million individuals.

This study evaluates the genetic architecture of sudden cardiac arrest through GWAS and Mendelian randomization, finding genetic correlations with CAD, height, BMI, and electrical instability traits.

The paper describes extensions to an online resource for cardiac electrophysiology models, focusing on reproducible model development from experimental data.

The paper develops a cross-cell type regression model to predict drug responses in adult cardiac myocytes using iPSC-CM data, showing accurate predictions for both healthy and diseased cells.

This study shows that Pitx2 insufficiency in ventricular chambers causes cardiac hypertrophy, dilation, and electrophysiological defects similar to long QT syndrome.

This study identifies 47 novel genetic loci associated with PR interval through genome-wide association meta-analysis across multiple populations.

This study identifies mutations in RPL3L and MYZAP as risk factors for atrial fibrillation through genome-wide association analysis and functional validation.

The paper identifies fragile physiological dynamics of ion channel kinetics associated with genomic determinants of arrhythmias and validates this relationship using RNA sequencing.