Baralle, Dr Diana

BSc MBBS MRCP MD

Speciality

Clinical Genetics  

Training and Education

Univeristy College, London 

Experience

Dr Baralle has worked for Southampton University Hospitals Trust since September 2007.

Consultant in Cambridge previously for 4 years.
Senior Lecturer in Medical Genetics. Principal Investigator for resesarch lab. in Human Genetics specialising in premRNA splicing.
Lead for Neurofibromatosis clinic 

Research

Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.
Raponi M, Buratti E, Llorian M, Stuani C, Smith CW, Baralle D.
FEBS J. 2008 Dec;275(24):6101-8.
Neurofibromatosis Cancer Incidence in the UK. L Walker, D Thompson, D Easton, B Ponder, M Ponder, I Frayling, D Baralle. British Journal Cancer  95(2): 233-8 2006.
Functional splicing assay shows a pathogenic intronic mutation in Neurofibromatosis type 1 (NF1) due to intronic sequence exonization. Raponi M, Upadhyaya M, Baralle D. Human Mutation 27(3) : 294-295 2006.
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG.