Research Biographies

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Prof. Richard Gibbons

Professor of Clinical Genetics and
Hon. Consultant in Clinical Genetics


Prof. Richard Gibbons

Contact Details

E-mail address:Richard.Gibbons@imm.ox.ac.uk
Telephone:+44 (0)1865 222 632
Fax:+44 (0)1865 222 424
Address:Molecular Haematology Unit
Weatherall Institute of Molecular Medicine
John Radcliffe Hospital
Headington
Oxford
OX3 9DS
Research Programme:Chromatin remodelling factors in human genetic disease

 

Research Areas

Information on ATR-X Syndrome - ATR-X Syndrome Web Site

 

 

Key/Selected Publications

  • Law, M.J., Lower, K.M., Voon, H.P., Hughes, J.R., Garrick, D., Viprakasit, V., Mitson, M., De Gobbi, M., Marra, M., Morris, A., Abbott, A., Wilder, S.P., Taylor, S., Santos, G.M., Cross, J., Ayyub, H., Jones, S., Ragoussis, J., Rhodes, D., Dunham, I., Higgs, D.R. & Gibbons, R.J. (2010) ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner. Cell, 143, 367-378. Pubmed Abstract

  • Richard J Gibbons, Andrea Pellagatti, David Garrick, William G Wood, Nicola Malik, Helena Ayyub, Cordelia Langford, Jacqueline Boultwood, James S Wainscoat and Douglas R Higgs (2003): Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). Nat Genet, 34(4):446-9. Pubmed Abstract

  • Gibbons RJ, McDowell TL, Raman S, O'Rourke DM, Garrick D, Ayyub H, Higgs DR. (2000) Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation. Nature Genet. 24, 368-371. Pubmed Abstract

  • Gibbons RJ, Picketts DJ, Villard L, Higgs DR. (1995) Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell, 80, 837-845. Pubmed Abstract

Recent Publications

  • Giardine et al., (2011) Systemic documentation and analysis of human genetic variation using the microattribution approach. Nat Genet, in press.

  • Law, M.J., Lower, K.M., Voon, H.P., Hughes, J.R., Garrick, D., Viprakasit, V., Mitson, M., De Gobbi, M., Marra, M., Morris, A., Abbott, A., Wilder, S.P., Taylor, S., Santos, G.M., Cross, J., Ayyub, H., Jones, S., Ragoussis, J., Rhodes, D., Dunham, I., Higgs, D.R. & Gibbons, R.J. (2010) ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner. Cell, 143, 367-378. Pubmed Abstract

  • Gibbons, R.J. (2010) ATR-X. In: Management of Genetic Syndromes (ed. by Cassidy, S. & Allanson, J.), pp. 97-110. John Wiley & Sons.

  • Gibbons, R.J. & Higgs, D.R. (2010) ATRX: Taming tandem repeats. Cell Cycle, 9, 4605-4606. PubMed Abstract

  • Goldberg, A.D., Banaszynski, L.A., Noh, K.M., Lewis, P.W., Elsaesser, S.J., Stadler, S., Dewell, S., Law, M., Guo, X., Li, X., Wen, D., Chapgier, A., DeKelver, R.C., Miller, J.C., Lee, Y.L., Boydston, E.A., Holmes, M.C., Gregory, P.D., Greally, J.M., Rafii, S., Yang, C., Scambler, P.J., Garrick, D., Gibbons, R.J., Higgs, D.R., Cristea, I.M., Urnov, F.D., Zheng, D. & Allis, C.D. (2010) Distinct factors control histone variant H3.3 localization at specific genomic regions. Cell, 140, 678-691. PubMed Abstract