Author
University of CambridgeORCID 0000-0002-1924-3120Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Stephen B. Watt, Matiss Ozols, Arianna Landini…·Mattia Frontini
This study identifies genetic determinants of endothelial cell molecular traits and their overlap with disease GWAS loci, revealing shared and unique mechanisms in non-communicable diseases.
Giulia Emanuelli, Jiayi Zhu, Wei Li…·Stefan John Marciniak
The paper functionally validates EIF2AK4 variants in PAH patients, finding some variants are non-pathogenic and others are hypomorphic and responsive to a kinase inhibitor.
Stefan Gräf, Matthias Haimel, Marta Bleda…·Nicholas W. Morrell
This study identifies novel rare genetic variants associated with heritable pulmonary arterial hypertension through whole genome sequencing of cases and controls.