Author
University of CambridgeORCID 0000-0002-2654-8854Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Sam M. Lockhart, Milan Mušo, Ilona Zvetkova…·Stephen O’Rahilly
This study identifies damaging LXRα mutations linked to reduced triglycerides but increased liver enzyme levels and hepatotoxicity, suggesting LXR's role in liver health and cautioning against its inhibition for MASLD treatment.
Emily Mitchell, Michael Spencer Chapman, Nicholas Williams…·Peter J. Campbell
This study tracks clonal dynamics in human haematopoiesis across age, finding that clonal diversity sharply declines after 70, driven by positive selection on many genes and loss of Y chromosome in males.
Teresa G. Krieger, Carla Moran, Alberto Frangini…·Frederick J. Livesey
This study shows that THRA mutations impair neural progenitor cell proliferation and organisation in human cortical development using patient-derived iPSCs.
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.