Colin N. A. Palmer

This study examines PPARδ expression in resected pancreatic cancer specimens and finds an association with adverse clinicopathological features and poorer survival.

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 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.

This paper conducts a multi-ancestry GWAS to identify genetic loci influencing NLR and develops a PRS to assess its causal association with DR, finding no significant causal link.

This study identifies 40 genetic loci associated with placental weight using GWAS in 179,025 children and parents, revealing shared and distinct genetic influences with fetal growth.

This study identifies genetic loci associated with age at diagnosis of T2D in South Indian and European populations, revealing shared and distinct genetic architectures.

This study identifies XBP1 expression in pancreatic islets as a genetic factor associated with poor glycaemic control and increased T2DM risk in South and East Asians, particularly in young non-obese onset diabetes.

This study shows that considering both loss-of-function and gain-of-function variants in SLCO1B1 improves the prediction of statin intolerance compared to using only the Val174Ala variant.

iPheGWAS integrates and visualizes GWAS results using hierarchical clustering, offering faster genetic correlation analysis and 3D visualization compared to LDSC.

This study investigates the association between LTA4H genetic variant rs2660845 and montelukast response in early-onset asthma, finding increased exacerbation risk in European carriers.

This study performs a meta-analysis of GWAS on self-reported headache and migraine, identifying four new risk loci for headaches using 397,385 samples.

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.

This study identifies 3 genetic loci associated with neck or shoulder pain using UK Biobank data, with partial replication in Generation Scotland.

PheGWAS creates a 3D visualization combining GWAS and PheWAS data to explore pleiotropy across phenotypes, identifying loci and genetic correlations.

This study identifies genetic correlations between eight pain phenotypes and depression, major depressive disorders, and neuroticism using UK Biobank data and LDSC methods.

This study identifies two genetic loci, GDF5 and COL27A1, associated with knee pain through a genome-wide association analysis in the UK Biobank and replication in other cohorts.

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.

This paper identifies genetic loci associated with retinal vascular tortuosity and links one of them to coronary artery disease risk.

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

This study fine-maps type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps, identifying 73 variants with >80% posterior probability of association.

This study quantifies index event bias in large genetic association studies and finds it can explain some associations between disease risk alleles and BMI.