Catherine John

This paper identifies novel genetic loci for hypertrophic cardiomyopathy through GWAS and develops a polygenic risk score associated with HCM diagnosis and outcomes.

This paper conducts a genome-wide association study to identify genetic variants associated with varenicline-aided smoking cessation using electronic health records.

This study identifies seven novel genetic loci associated with chronic dry cough and ACEi-induced cough, implicating neurological genes and highlighting potential therapeutic targets.

This study performs a multi-ancestry GWAS on lung function and COPD, identifying 559 genes and 29 pathways, and showing genetic risk scores are associated with COPD across ancestries.

This study identifies genetic associations with ACE inhibitor-induced cough and finds shared genetic factors with chronic dry cough.

This study identifies eight novel genetic signals associated with asthma-COPD overlap through a genome-wide association analysis involving multiple cohorts.

This study identifies genetic loci associated with SARS-CoV-2 susceptibility and disease severity using GWAS and colocalization, and links them to eQTLs in various tissues.

This study investigates the pleiotropic effects of SERPINA1 Z allele heterozygosity on various phenotypes using UK Biobank data, finding associations with height, gall bladder disease, heart disease, and lung function.

The paper identifies SNPs with sex-specific effects on lung function traits using UK Biobank data, finding a significant interaction at rs7697189 near HHIP.

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