Joanna M. M. Howson

The paper identifies CAD risk variants that alter VSMC gene programs via ox-LDL-induced enhancer remodelling using multi-omics approaches.

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

This study identifies 20 genetic loci associated with sleep traits using UK Biobank data, including novel signals for REM and NREM sleep duration and sex-specific associations.

The paper identifies tissue-specific protein regulation and pQTLs associated with cardiometabolic disease using multi-tissue proteomic data from STARNET patients.

The paper maps genetic associations with plasma proteins in 54,306 UK Biobank participants, identifying 10,248 new protein quantitative trait loci (pQTLs) and expanding the genetic architecture of the plasma proteome.

This study uses Mendelian randomization to identify plasma proteins associated with stroke risk and potential therapeutic targets.

This paper introduces HyPrColoc, a Bayesian algorithm for multi-trait colocalization using GWAS summary statistics, identifying 43 regions where coronary heart disease colocalizes with other traits.

This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.

This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.

The paper identifies a genetic variant in PROCR that influences protein C and factor VII levels, linking it to both reduced coronary artery disease risk and increased venous thromboembolism risk through opposing inflammatory and thrombotic mechanisms.

The paper develops a genomic risk score (metaGRS) for ischaemic stroke that outperforms existing risk factors in predicting stroke risk.

This paper introduces a robust MR method that identifies groups of genetic variants with similar causal effects, showing it outperforms existing methods in accuracy and speed for HDL-cholesterol and CHD analysis.

The paper analyzes rare coding variants in smoking and drinking behavior using exome chip data, finding that they contribute to phenotypic variation but require larger samples for individual variant associations.

This paper introduces the Recall-by-Genotype study design to improve causal inference in genetic studies through genotype-directed deep-phenotyping.