Details

Role Group Leader / Honorary Fellow Manager

Research area Genomic Medicine

Group Molecular Therapies

Top Publications

Fredwall, SO, Maanum, G, Johansen, H, Snekkevik, H, Savarirayan, R, Lidal, IB. Current knowledge of medical complications in adults with achondroplasia: A scoping review. Clinical Genetics 97(1) : 179 -197 2020
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Damseh, N, Stimec, J, O’Brien, A, Marshall, C, Savarirayan, R, Jawad, A, Laxer, R, Kannu, P. Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin?. Orphanet Journal of Rare Diseases 14(1) : 156 2019
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Mortier, GR, Cohn, DH, Cormier-Daire, V, Hall, C, Krakow, D, Mundlos, S, Nishimura, G, Robertson, S, Sangiorgi, L, Savarirayan, R, et al. Nosology and classification of genetic skeletal disorders: 2019 revision. American Journal of Medical Genetics Part A 179(12) : 2393 -2419 2019
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Tan, NB, Tan, TY, Martyn, MM, Savarirayan, R, Amor, DJ, Moody, A, White, SM, Stark, Z. Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit. Journal of Paediatrics and Child Health 55(11) : 1309 -1314 2019
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Krejci, P. C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. New England Journal of Medicine 381(13) : 1291 2019
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