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Details

Role Group Leader / Honorary Fellow Manager
Research area Genomic Medicine
Group Molecular Therapies

Top Publications

  • Fenwick, AL, Kliszczak, M, Cooper, F, Murray, J, Sanchez-Pulido, L, Twigg, SRF, Goriely, A, McGowan, SJ, Miller, KA, Taylor, IB, et al. Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. American Journal of Human Genetics 99(1) : 125 -138 2016
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  • Yap, P, Liebelt, JE, Amor, DJ, Moore, L, Savarirayan, R. Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype. American Journal of Medical Genetics Part A 170(5) : 1363 -1366 2016
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  • White, KK, Savarirayan, R, Goldberg, MJ, MacKenzie, W, Bompadre, V, Bober, MB, Cho, T-J, Hoover-Fong, J, Parnell, SE, Raggio, C, et al. Response: “Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy” and “is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?”. American Journal of Medical Genetics Part A 170(4) : 1101 -1103 2016
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  • Mordaunt, DA, Savarirayan, R. Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?. Human Mutation 37(3) : 324 -324 2016
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  • Ahimastos, AA, Aggarwal, A, Savarirayan, R, Dart, AM, Kingwell, BA. Retraction notice to “A role for plasma transforming growth factor-β and matrix metalloproteinases in aortic aneurysm surveillance in Marfan syndrome?” [Atherosclerosis 209(1) (2010) 211–214]. Atherosclerosis 246: 385 2016
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