Nicholas John Timpson

This paper identifies 58 genome-wide significant loci for major anxiety disorders using a large meta-analysis and highlights GABAergic signaling as a potential mechanism.

The paper updates the metaboprep R package to support proteomics data, enhancing its utility for multi-omics preprocessing in epidemiological research.

This study conducts a cross-ancestral GWAS and fine mapping of head and neck squamous cell carcinoma subsites, identifying 29 novel variants and highlighting gene-environment interactions.

The paper investigates the association between neurodevelopmental copy number variants (ND-CNVs) and increased risk of internalising and cardiometabolic multimorbidity using UK Biobank data.

This study identifies 21 infertility loci and over 400 reproductive hormone loci through GWAS across multiple cohorts, finding limited genetic correlation between reproductive hormones and infertility.

This study identifies genetic links between early vocabulary development and ADHD and cognition traits using genome-wide analyses.

The paper identifies nephronectin as a mediator of obesity's effect on COVID-19 severity using proteome-wide Mendelian randomization and validates its expression in lung cells.

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

This paper identifies 29 metabolites associated with genetic predisposition to higher BMI using a recall-by-genotype study design in young adults.

This study imputed HMOX1 GT(n) repeat length in European cohorts and found no significant phenotypic associations despite high imputation accuracy.

The paper investigates the stability and regulatory implications of DNA co-methylation across age and ancestry, finding stable patterns and links to transcription factor binding and chromatin interactions.

The paper describes the continental ancestry and population structure of non-white British individuals in the UK Biobank using reference populations and clustering methods.

metaboprep provides an R package for standardized pre-analysis processing and reporting of metabolomics data, enabling quality assessment and sample/metabolite selection.

This study examines how a schizophrenia-associated ZNF804A variant affects sleep neurophysiology and memory consolidation in healthy adults.

This study conducts a large-scale GWAS of food liking in 161,625 UK Biobank participants, identifying 1401 associations and revealing genetic correlations with brain traits.

The paper identifies the prevalence and phenotypic impact of loss of function mutations in the MC4R gene in a UK birth cohort, finding a 0.30% carrier rate with significant effects on body weight and BMI.

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 31 host genetic loci influencing gut microbiome composition through GWAS and suggests causal effects in inflammatory diseases.

The paper estimates the proportion of phenotypic variation captured by DNA methylation markers in 400 traits and finds that most complex traits show little association with these markers, though some like smoking have moderate capture.

The paper develops an automated pipeline using the latent causal variable approach to infer phenome-wide causal relationships, applying it to dental caries and periodontitis to show they are downstream consequences of other traits.

This study identifies 48 genetic variants associated with handedness using a large GWAS, highlighting polygenic nature and genetic links to neuropsychiatric traits.

This study identifies early metabolic features associated with genetic liability to type 2 diabetes across childhood, adolescence, and young adulthood using longitudinal metabolomics data.

The DPUK Data Portal provides secure access to cohort data for dementia research, supporting multi-modal analyses and collaborations across multiple institutions.

The paper investigates how CHRNA5-A3-B4 gene variants affect smoking behaviors and nicotine responses in humans, finding reduced cravings and smoke inhalation in minor allele carriers.

The paper examines geographical stratification of genetic variants in UK Biobank data and its impact on genetic association analyses, finding that genetic risk scores show geographic structure and may introduce bias.

This study identifies 78 genetic signals for male puberty timing using a large sample of men, revealing links to hair color and health outcomes.

This study examines ethical challenges in Recall by Genotype (RbG) research through interviews with ALSPAC participants, highlighting the importance of trust and transparency in long-term cohort studies.

This paper conducts a consortium-wide GWAS to identify genetic variants associated with childhood dental caries, finding two significant loci but low heritability estimates.

This study uses Mendelian randomization to identify genetic loci that may influence disease through DNA methylation changes, finding 1,191 effects across 62 traits with high replication in UK Biobank.