Folkert Wouter Asselbergs

Genome-wide association analysis reveals insights into the molecular aetiology underlying dilated cardiomyopathy

This study identifies 80 genetic loci and 61 effector genes associated with dilated cardiomyopathy through GWAS and integrates transcriptomic data to uncover biological pathways and cellular states involved in the disease.

Improving Genetic Association Studies with a Novel Methodology that Unveils the Hidden Complexity of All-Cause Heart Failure

The paper introduces TRACE, a GWAS method that improves variance explained in All-Cause Heart Failure by accounting for phenotype heterogeneity and identifying gene-environment interactions.

LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants

LoFTK automatically predicts LoF variants and identifies genes affected by compound heterozygous LoF variants in genomes.

Phenotypic and genetic factors are associated with absence of cardiomyopathy symptoms in PLN c.40_42delAGA carriers

The paper identifies shorter QRS duration in asymptomatic PLN c.40_42delAGA carriers and links it to genetic sensitivity in symptomatic carriers.

Genome-wide characterization of circulating metabolic biomarkers reveals substantial pleiotropy and novel disease pathways

This study identifies 400+ genetic loci associated with circulating metabolic traits and highlights pleiotropy and novel disease pathways.

Sex-dependent gene regulation of human atherosclerotic plaques by DNA methylation and transcriptome integration points to smooth muscle cell involvement in women.

Common variants associated with OSMR expression contribute to carotid plaque vulnerability, but not to cardiovascular disease in humans

The paper identifies a genetic variant associated with increased carotid plaque vulnerability but not with cardiovascular disease risk in humans.

Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23

This study performs a large GWAS on dilated cardiomyopathy, identifying two new loci and confirming two existing ones, with potential therapeutic implications.

Transcriptional regulation profiling reveals disrupted lipid metabolism in failing hearts with a pathogenic phospholamban mutation

The paper investigates epigenetic and transcriptional changes in PLN R14del cardiomyopathy, identifying disrupted lipid metabolism and altered gene regulation.

Family history and polygenic risk of cardiovascular disease: independent factors associated with secondary cardiovascular manifestations in patients undergoing carotid endarterectomy

This study examines the association between family history and polygenic risk scores with secondary cardiovascular events in patients undergoing carotid endarterectomy, finding both factors independently increase risk.

Association of polygenic risk scores for coronary artery disease with subsequent events amongst established cases

This study evaluates how polygenic risk scores for coronary artery disease (CAD) relate to future events in individuals with and without CAD, finding attenuated or inverse associations in established cases.

SALTClass: classifying clinical short notes using background knowledge from unlabeled data

SALTClass improves classification of sparse clinical text by using clustering and smoothing on unlabeled data to enhance representation for supervised classification tasks.

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

The paper identifies genetic variants and transcripts associated with glycemic traits by analyzing exome-array data from 144,600 individuals, highlighting tissue-specific roles in glucose regulation.

Genetic drug target validation using Mendelian randomization

This paper introduces a mathematical framework to improve Mendelian randomization analysis for drug targets by addressing horizontal pleiotropy when proteins are the risk factors.

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

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.

Discovering patterns of pleiotropy in genome-wide association studies

This paper introduces SAPPHO methods to detect pleiotropy in GWAS by modeling shared patterns of genetic associations, finding 16 additional and 124 novel loci in meta-analysis.

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

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

Mutations in RPL3L and MYZAP increase risk of atrial fibrillation

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