Celeste Bento, member of CIAS working with the Genes, Populations and Diseases Group, has co-authored three articles with one of the 2019 Nobel Prize winner, Sir Peter Ratcliffe.
Sir Peter Ratcliffe, together with William Kaelin Jr. and Gregg Semenza were awarded the 2019 Nobel Prize in Medicine for their pioneering research into how human cells respond to changing oxygen levels.
The articles, presented below, were published in 2014, 2015, and 2016 and are available in open access:
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. HERE
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. HERE
Erythrocytosis associated with a novel missense mutation in the BPGM gene. HERE