Author
City St George's, University of LondonORCID 0000-0002-2120-2088Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Grigorios Panteloglou, Jérôme Robert, Marieke Smit…·Arnold von Eckardstein
This study identifies COPI coatomer subunits that regulate LDL receptor activity, apoB secretion, and hepatic lipid storage, with genetic variants linked to elevated LDL-C levels.
Deborah J. Thompson, Daniel Wells, Saskia Selzam…·Michael E. Weale
The paper releases and evaluates polygenic risk scores for 53 diseases and traits in the UK Biobank and shows they outperform existing scores.
Valentina Cipriani, Letizia Vestito, Emma Forton Magavern…·Damian P. Smedley
The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.
Simon J. Haworth, Chin Yang Shapland, Caroline Hayward…·David K. Jackson
The paper identifies 9 novel genetic loci, including low-frequency variants in TP53, associated with head circumference and intracranial volume in up to 46,000 individuals.