Dr Iris Egner
Wales 100,000 genome Project Manager
- egneri@cardiff.ac.uk
- +44 (0)29 2251 0028
- 2nd floor, R2.30, Institute of Medical Genetics Building, University Hospital of Wales, Heath Park, Cardiff, CF14 4XN
Overview
I am the project manager for the 100,000 Genome Project in Wales. 420 patients with rare genetic diseases will be recruited in Wales. For more information on the 100,000 Genome project, please follow this link to the Genomics England webpage: https://www.genomicsengland.co.uk/.
In addition, I coordinate the study “Genes and the kidney in TSC”. For details on this and other studies involving inherited tumour syndromes, please see: http://www.cardiff.ac.uk/research/explore/research-units/inherited-tumour-syndromes
Please see my LinkedIn prolife for my biography and a short overview of my work. It also lists my professional memberships and committee positions as well as previous academic positions. The link can be found with my contact details.
Biography
Publications
2020
- Short, E. et al. 2020. APC transcription studies and molecular diagnosis of familial adenomatous polyposis. European Journal of Human Genetics 28(1), pp. 118-121. (10.1038/s41431-019-0486-2)
2013
- Weston, A. H., Egner, I., Dong, Y., Porter, E. L., Heagerty, A. M. and Edwards, G. 2013. timulated release of a hyperpolarizing factor (ADHF) from mesenteric artery perivascular adipose tissue: involvement of myocyte BKCa channels and adiponectin. British Journal of Pharmacology 169(7), pp. 1500-1509. (10.1111/bph.12157)
2011
- Weston, A. H., Geraghty, A., Egner, I. and Edwards, G. 2011. The vascular extracellular calcium-sensing receptor: an update. Acta Physiologica 203(1), pp. 127-137. (10.1111/j.1748-1716.2010.02249.x)