Details

Role Group Leader / Honorary Fellow Manager

Research area Genomic Medicine

Group Molecular Therapies

Top Publications

Coman, D, Bostock, D, Hunter, M, Kannu, P, Irving, M, Mayne, V, Fietz, M, Jaeken, J, Savarirayan, R. Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia. American Journal of Medical Genetics Part A 146A(3) : 389 -392 2008
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Ahimastos, A, Aggarwal, A, D’Orsa, K, Formosa, M, White, A, Savarirayan, R, Dart, A, Kingwell, B. Angiotensin-Converting Enzyme Inhibition Reduces Left Ventricular Outflow Tract Diameter in Marfan Syndrome; Potential Role of Reduced Transforming Growth Factor-β Signalling. Heart Lung and Circulation 17: s85 2008
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Cavanagh, JAL, Tammen, I, Windsor, PA, Bateman, JF, Savarirayan, R, Nicholas, FW, Raadsma, HW. Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN. Mammalian Genome 18(11) : 808 -814 2007
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Kannu, P, McFarlane, JH, Savarirayan, R, Aftimos, S. An unclassifiable short rib‐polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings. American Journal of Medical Genetics Part A 143A(21) : 2607 -2611 2007
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Kannu, P, Aftimos, S, Mayne, V, Donnan, L, Savarirayan, R. Metatropic dysplasia: Clinical and radiographic findings in 11 patients demonstrating long‐term natural history. American Journal of Medical Genetics Part A 143A(21) : 2512 -2522 2007
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