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Details

Role Group Leader / Honorary Fellow Manager
Research area Genomic Medicine

Top Publications

  • Hoover-Fong, J, Cheung, MS, Fano, V, Hagenas, L, Hecht, JT, Ireland, P, Irving, M, Mohnike, K, Offiah, AC, Okenfuss, E, et al. Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history. Bone 146: 115872 2021
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  • Fredwall, SO, Linge, J, Leinhard, OD, Kjønigsen, L, Eggesbø, HB, Weedon-Fekjær, H, Lidal, IB, Månum, G, Savarirayan, R, Tonstad, S. Cardiovascular risk factors and body composition in adults with achondroplasia. Genetics in Medicine 23(4) : 732 -739 2021
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  • Hoover-Fong, J, Irving, M, Bacino, C, Charrow, J, Cormier-Daire, V, Polgreen, L, Dickson, P, Harmatz, P, Larimore, K, Jayaram, K, et al. eP151 Vosoritide for children with achondroplasia: a 60-month update from an ongoing phase 2 clinical trial. Molecular Genetics and Metabolism 132: s101 2021
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  • Savarirayan, R, Irving, M, Maixner, W, Thompson, D, Offiah, AC, Connolly, DJ, Raghavan, A, Powell, J, Kronhardt, M, Jeha, G, et al. Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery. Science Progress 104(1) : 00368504211003782 2021
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  • Fredwall, SO, Steen, U, de Vries, O, Rustad, CF, Eggesbø, HB, Weedon-Fekjær, H, Lidal, IB, Savarirayan, R, Månum, G. High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study. Orphanet Journal of Rare Diseases 15(1) : 123 2020
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