Head of Platforms and Pipelines
I’ve been embroiled in genomics for over twenty years in academia and the private
My role at EI is to oversee our largest group - ‘Platforms and Pipelines’. We enable all of EI’s high-throughput genomics projects across a huge breadth of organisms and our expertise in the lab is matched by that of our dedicated bioinformaticians and project managers.Together with our colleagues in Scientific
Visit the Genomics Pipelines Group page.
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
G Abdel-Salam, M Thoenes, H H Afifi, F Körber, D Swan and H Jörn BolzEmail author. Orphanet Journal of Rare Diseases 20149:12. DOI: 10.1186/1750-1172-9-12© Abdel-Salam et al.; licensee BioMed Central Ltd. 2014. Published: 23 January 2014.
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
O Semler, L Garbes, K Keupp, D Swan, K Zimmermann, J Becker, S Iden, B Wirth, P Eyse, F Koerber, E Schoenau, S K. Bohlander, B Wollnik, C Netzer. The American Journal of Human Genetics. Volume 91, Issue 2.
A CD4 T cell gene signature for early rheumatoid arthritis implicates interleukin 6-mediated STAT3 signalling, particularly in anti-citrullinated peptide antibody-negative disease.
A G Pratt, D C Swan, S Richardson, G Wilson, C M U Hilkens, D A Young, J D Isaacs. Annals of the Rheumatic Diseases 2012;71:1374-1381 doi:10.1136/annrheumdis-2011-200968