Anna Helgadóttir

GWAS of amiodarone-induced thyroid dysfunction: Applications for genotype-guided risk stratification

This paper identifies genetic variants associated with amiodarone-induced thyroid dysfunction and shows they improve risk prediction beyond general thyroid disease PRS.

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.

Implicating genes, pleiotropy and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

This study identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal traits.

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

This paper integrates GWAS data with functional genomic datasets to identify regulatory mechanisms and causal genes underlying lipid-related traits.

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

A coronary artery disease GWAS of 181,522 cases among 1,165,690 participants yields 241 associations (54 new); an eight-predictor consensus nominates 185 candidate causal genes, 94 with ≥3 predictors.

Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure

This study conducts a large GWAS on heart failure, identifying 12 genetic loci with associations to CAD, atrial fibrillation, and reduced left ventricular function, and provides causal evidence for several risk factors.

A rare missense mutation in MYH6 confers high risk of coarctation of the aorta

The paper identifies a rare missense mutation in MYH6 associated with increased risk of coarctation of the aorta and other cardiac conditions.

Genome-wide analysis yields new loci associating with aortic valve stenosis

This study identifies two new genetic loci associated with aortic valve stenosis through a large genome-wide association study.

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.