Details

Role Group Leader / Honorary Fellow Manager

Research area Genomic Medicine

Group Molecular Therapies

Top Publications

Hellemans, J, Preobrazhenska, O, Willaert, A, Debeer, P, Verdonk, PCM, Costa, T, Janssens, K, Menten, B, Roy, NV, Vermeulen, SJT, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nature Genetics 36(11) : 1213 -1218 2004
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Susani, L, Pangrazio, A, Sobacchi, C, Taranta, A, Mortier, G, Savarirayan, R, Villa, A, Orchard, P, Vezzoni, P, Albertini, A, et al. TCIRG1‐dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Human Mutation 24(3) : 225 -235 2004
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Whitelaw, CM, Anwar, S, Adès, LC, Gole, GA, Elder, JE, Savarirayan, R. Primary trabeculodysgenesis in association with neonatal Marfan syndrome. American Journal of Medical Genetics Part A 128A(4) : 418 -421 2004
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White, SM, Thompson, EM, Kidd, A, Savarirayan, R, Turner, A, Amor, D, Delatycki, MB, Fahey, M, Baxendale, A, White, S, et al. Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome. American Journal of Medical Genetics Part A 127A(2) : 118 -127 2004
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Bateman, JF, Freddi, S, McNeil, R, Thompson, E, Hermanns, P, Savarirayan, R, Lamandé, SR. Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: Further evidence that collagen X NC1 mutations impair trimer assembly. Human Mutation 23(4) : 396 -396 2004
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