Details

Role Group Leader / Honorary Fellow Manager

Research area Genomic Medicine

Group Molecular Therapies

Top Publications

Reversade, B, Escande-Beillard, N, Dimopoulou, A, Fischer, B, Chng, SC, Li, Y, Shboul, M, Tham, P-Y, Kayserili, H, Al-Gazali, L, et al. Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics 54(2) : 213 -213 2022
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Villegas, MA, Okenfuss, E, Savarirayan, R, White, K, Hoover-Fong, J, Bober, MB, Duker, A, Legare, JM. Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes. Neurosurgery Clinics of North America 33(1) : 7 -15 2022
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Savarirayan, R, De Bergua, JM, Arundel, P, McDevitt, H, Cormier-Daire, V, Saraff, V, Skae, M, Delgado, B, Leiva-Gea, A, Santos-Simarro, F, et al. Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. Therapeutic Advances in Musculoskeletal Disease 14: 1759720x221084848 2022
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Savarirayan, R, Tunkel, DE, Sterni, LM, Bober, MB, Cho, T-J, Goldberg, MJ, Hoover-Fong, J, Irving, M, Kamps, SE, Mackenzie, WG, et al. Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. Orphanet Journal of Rare Diseases 16(1) : 31 2021
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Ireland, PJ, Savarirayan, R, Pocovi, T, Tate, T, Coussens, M, Tofts, L, Munns, C, Pacey, V. Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia. Orphanet Journal of Rare Diseases 16(1) : 40 2021
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