Newcastle University

Background

Cloning and functional study of the Dysferlin gene with Professor Kate Bushby, Centre for Life.

Molecular investigation of muscular dystrophies, Centre for Life.

Qualifications

HND Biomedical Science
University of Northumbria at Newcastle

Previous Positions

Institute of Human Genetics
Centre for Life
Research Technician; 1990 - 2002

• Ressiniotis T, Griffiths PG, Keers SM, Chinnery PF, Birch M. A polymorphism at codon 31 of gene p21 is not associated with primary open angle glaucoma in Caucasians. BMC Ophthalmology 2005, 5(1), 5.
• Ressiniotis T, Griffiths PG, Birch M, Keers SM, Chinnery PF. Apolipoprotein E promoter polymorphisms do not have a major influence on the risk of developing primary open angle glaucoma. Molecular Vision 2004, 10, 805-807.
• Chinnery PF, Keers SM, Holden MJ, Ramesh V, Dalton A. Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene. Neurology 2004, 63(4), 710-712.
• Craig K, Keers SM, Archibald K, Curtis A, Chinnery PF. Molecular Epidemiology of Spinocerebellar Ataxia Type 6. Annals of Neurology 2004, 55(5), 752-755.
• Ressiniotis T, Griffiths PG, Birch M, Keers S, Chinnery PF. Primary open angle glaucoma is associated with a specific p53 gene haplotype. Journal of Medical Genetics 2004, 41(4), 296-298.
• Ressiniotis T, Griffiths PG, Birch M, Keers S, Chinnery PF. The Role of Apolipoprotein E Gene Polymorphisms in Primary Open-angle Glaucoma. Archives of Ophthalmology 2004, 122(2), 258-261.
• Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, Bashir R. The third human FER-1-like protein is highly similar to dysferlin. Genomics 2000, 68(3), 313-321.
• R. Bashir,S. Keers,T. Strachan,R. Passos-Bueno,M. Zatz,J. Weissenbach,D. Le Paslier,M. Meisler,K. Bushby. Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. Genomics 1996, 33(1), 46-52.
• K. Bushby,R. Bashir,S. Keers,S. Britton,M. Zatz,M. R. Passos-Bueno,M. Lovett,I. Mahjneh,G. Marconi,T. Strachan. The molecular biology of LGMD2B--towards the identification of the LGMD gene on chromosome 2p13. Neuromuscul Disord 1996, 6(6), 491-2.
• M. R. Passos-Bueno,R. Bashir,E. S. Moreira,M. Vainzof,S. K. Marie,L. Vasquez,P. Iughetti,E. Bakker,S. Keers,A. Stephenson,et al. Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region. Genomics 1995, 27(1), 192-5.
• R. Bashir,T. Strachan,S. Keers,A. Stephenson,I. Mahjneh,G. Marconi,L. Nashef,K. M. Bushby. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 1994, 3(3), 455-7.