Prof Ravi Savarirayan

Details

Role Group Leader / Honorary Fellow Manager

Research area Genetics

Group Molecular Therapies

Fredwall, SO, Linge, J, de Vries, O, Leinhard, OD, Eggesbø, HB, Weedon-Fekjær, H, Petersson, M, Widholm, P, Månum, G, Savarirayan, R. Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia. Orphanet Journal of Rare Diseases 18(1) : 35 2023
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Unger, S, Ferreira, CR, Mortier, GR, Ali, H, Bertola, DR, Calder, A, Cohn, DH, Cormier-Daire, V, Girisha, KM, Hall, C, et al. Nosology of genetic skeletal disorders: 2023 revision. American Journal of Medical Genetics Part A 191(5) : 1164 -1209 2023
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Tofts, LJ, Armstrong, JA, Broley, S, Carroll, T, Ireland, PJ, Koo, M, Langdon, K, McGregor, L, McKenzie, F, Mehta, D, et al. Australian guidelines for the management of children with achondroplasia. Journal of Paediatrics and Child Health 59(2) : 229 -241 2023
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Bacino, C, Savarirayan, R, Wilcox, W, Harmatz, P, Phillips, J, Polgreen, L, Tofts, L, Ozono, K, Arundel, P, Irving, M, et al. O22: A randomized controlled trial of vosoritide in infants and toddlers with achondroplasia*. 1(1) : 100118 2023
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Hoover-Fong, J, Irving, M, Bacino, C, Charrow, J, Cormier-Daire, V, Polgreen, L, Harmatz, P, Huntsman-Labed, A, Fisheleva, E, Sabir, I, et al. P194: Persistence of growth promoting effects in children with achondroplasia over seven years: Update from phase II extension study with vosoritide*. 1(1) : 100223 2023
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