Professor Steve Jeffery

My main research interests are searching for genes that are mutated in cardiac arrhythmias, primary lymphoedema, and varicose veins. The major funding at present comes from the British Heart Foundation, and we also have support from the British Skin Foundation for our work on lymphoedema. These studies are all conducted with my clinical colleagues in Genetics, Cardiology and Dermatology, and the eventual aim is to try and find some way to alleviate the distress caused by the mutations in the genes that we identify.

Recent Publications

Kumar S, Carver C, McCall S, Brice G, Ostergaard P, Mortimer P, Jeffery S. A family with lymphoedema-distichiasis where identical twins have a discordant phenotype. Clin Genet. 2007, 71:285-7.

Carver C, Brice G, Mansour S, Ostergaard P, Mortimer P, Jeffery S. Three children with Milroy disease and de novo mutations in VEGFR3. Clin Genet. 2007, 71:187-9.

Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis in Childhood. 2006,92:128-132.

Carolyn Sholto-Douglas-Vernon, Rachel Bell, Glen Brice, Sahar Mansour, Mansoor Sarfarazi, Anne H Child, Alberto Smith, Russell Mellor, Kevin Burnand, Peter Mortimer, Steve Jeffery. Lymphoedema Distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations. Human Genetics. 2005, 117:238-242

Losito A, Kalidas K, Santoni S, Errico R, Jeffery S. Association of the -159C/T polymorphism of the endotoxin receptor (CD14)with carotid artery disease and cardiovascular mortality in dialysis patients. Blood Purrif. 2005, 23:128-133

Jeffery S, Poloniecki J, Leatham E, Bevan E, Ireson I, Talbot S, Cole D, Kaski JC. A protective contribution of the Q allele of the R353Q polymorphism of the Factor VII gene in individuals with chronic stable angina? Int. J. Cardiol. 2005, 100;395-399.

Arroyo-Espliguero R, El-Sharnouby K, Vaquez-Rey E, Kalidas K, Jeffery S, Kaski JC. CD14 C(-260)T promoter polymorphism and prevalence of acute coronary syndromes. Int. J Cardiol 2005, 98:307-312

Kalidas K, Shaw AC, Crosby AH, Ruth Newbury-Ecob R , Greenhalgh L, Temple IK, Law C, Patel A, Patton MA, Jeffery S. Genetic heterogeneity in LEOPARD syndrome: Two families with no mutations in PTPN11. J. Hum. Gen. 2005, 50:21-25

Mandy Y M Ng, Toby Andrew, Tim D Spector and Steve Jeffery. Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sib pairs.J. Med Genet. 2005, 42:235-239

Brice, G, Child A, Evans AE, Bell R, Mansour S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P. Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet. 2005, 42:98-102