Publications

For more information, please see my ORCiD or Google Scholar profile.

Preprints

Genetic determinants of blood gene expression and splicing and their contribution to molecular phenotypes and health outcomes

Variant-to-function dissection of rare non-coding GWAS loci with high impact on blood traits

Mendelian randomisation identifies alternative splicing of the FAS death receptor as a mediator of severe COVID-19

Published

The common, VTE-protective, G haplotype of F5 increases factor V-short, TFPI function, and risk of bleeding

Matthew C Sims, Magdalena Gierula, Jonathan C Stephens, Alex Tokolyi, Luca Stefanucci, Elodie Persyn, Luanluan Sun, Janine H Collins, Emma E Davenport, Emanuele Di Angelantonio, Kate Downes, Michael Inouye, Dirk S Paul, Will Thomas, Alexander Tolios, NIHR BioResource, Willem H Ouwehand, Nicholas S Gleadall, James TB Crawley, Adam S Butterworth, Mattia Frontini, Josefin Ahnström

Misexpression of inactive genes in whole blood is associated with nearby rare structural variants

Linear plasmids in Klebsiella and other Enterobacteriaceae

Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort

3D-Cardiomics: A spatial transcriptional atlas of the mammalian heart

Distinct evolutionary dynamics of horizontal gene transfer in drug resistant and virulent clones of Klebsiella pneumoniae

TrawlerWeb: an online de novo motif discovery tool for next-generation sequencing datasets