Prof Raymond O'KeefePhD

Senior Lecturer

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Publications

  1. 2019
  2. Accepted/In press

    A homozygous missense variant in CHRM3 associated with familial urinary bladder disease

    Newman, W., O'Keefe, R., Thomas, H., Wood, K., Urquhart, J., O'Sullivan, J., Beaman, G., Woolf, A. S. & Stuart, H., 2 Aug 2019, (Accepted/In press) In : Clinical Genetics.

    Research output: Contribution to journalArticle

  3. Published

    Disease modelling of core pre-mRNA splicing factor haploinsufficiency

    Wood, K., Rowland, C. F., Shaikh Qureshi, W. M., Thomas, H., Buczek, W., Briggs, T., Hubbard, S., Hentges, K., Newman, W. & O'Keefe, R., 13 Jul 2019, In : Genome Medicine.

    Research output: Contribution to journalArticle

  4. Published

    Gene Cloning for the Analysis of Gene Expression

    Thomas, H. & O'Keefe, R., May 2019, Biomolecular and Bioanalytical Techniques: Theory, Methodology and Applications. Ramesh, V. (ed.). John Wiley & Sons Ltd, p. 59-80

    Research output: Chapter in Book/Report/Conference proceedingChapter

  5. 2018
  6. Published

    A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects

    Demain, L. A. M., Antunes, D., O'Sullivan, J., Bhaskhar, S. S., O'Keefe, R. T. & Newman, W. G., 19 Apr 2018, In : Clinical Genetics.

    Research output: Contribution to journalArticle

  7. Published

    Large-scale profiling of noncoding RNA function in yeast

    Parker, S., Fraczek, M., Wu, J., Shamsah, S., Manousaki, A., Dungrattanalert, K., Almeida, R., Invernizzi, E., Burgis, T., Omara, W., Griffiths-Jones, S., Delneri, D. & O'Keefe, R., 13 Mar 2018, In : PL o S Genetics. 14, 3, 14(3): e1007253.

    Research output: Contribution to journalArticle

  8. 2017
  9. Published

    Cellular ninjas regulate gene expression

    O'Keefe, R., Nov 2017, BIOLOGICAL SCIENCES REVIEW, 30, 2, p. 2-6.

    Research output: Contribution to specialist publicationArticle

  10. Published

    A resource for functional profiling of noncoding RNA in the yeast Saccharomyces cerevisiae

    Parker, S., Fraczek, M., Wu, J., Shamsah, S., Manousaki, A., Dungrattanalert, K., Almeida, R., Estrada-Rivadeneyra, D., Omara, W., Delneri, D. & O'Keefe, R., Aug 2017, In : RNA. 23, 8, p. 1166-1171

    Research output: Contribution to journalArticle

  11. 2016
  12. Published

    Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

    Jenkinson, E., Rodero, M. P., Kasher, P., Uggenti, C., Oojageer, A., Goosey, L., Rose, Y., Urquhart, J., Williams, S., Bhaskar, S. S., O'Sullivan, J., Baerlocher, G. M., Haubitz, M., Aubert, G., Barañano, K. W., Barnicoat, A. J., Battini, R., Berger, A., Blair, E. M., Brunstrom-Hernandez, J. E. & 46 others, Buckard, J. A., Cassiman, D. M., Caumes, R., Cordelli, D. M., De Waele, L. M., Fay, A. J., Ferreira, P., Fletcher, N. A., Fryer, A. E., Goel, H., Hemingway, C. A., Henneke, M., Hughes, I., Jefferson, R. J., Kumar, R., Lagae, L., Landrieu, P. G., Lourenço, C. M., Malpas, T. J., Mehta, S. G., Metz, I., Naidu, S., Õunap, K., Panzer, A., Prabhakar, P., Quaghebeur, G., Schiffmann, R., Sherr, E. H., Sinnathuray, K. R., Soh, C., Stewart, H., Stone, J., Van Esch, H., Van Mol, C. E. G., Vanderver, A., Wakeling, E. L., Whitney, A., Pavitt, G., Griffiths-Jones, S., Rice, G., Revy, P., van der Knaap, M. S., Livingston, J. H., O'Keefe, R., Crow, Y. & Kershaw, C., 19 Sep 2016, In : Nature Genetics. 48, 2, p. 1185–1192 11 p.

    Research output: Contribution to journalArticle

  13. Published

    Non-coding RNAs and disease: the classical ncRNAs make a comeback

    Almeida, R., Fraczek, M., Parker, S., Delneri, D. & O'Keefe, R., 15 Aug 2016, In : Biochemical Society Transactions. 44, 4, p. 1073-1078

    Research output: Contribution to journalArticle

  14. Published

    Expanding the Genotypic Spectrum of Perrault syndrome.

    Demain, L., Urquhart, J., O'Sullivan, J., Williams, S., Jenkinson, E., Bhaskar, S. S., Lourenco, C. M., Heiberg, A., Pearce, S. H., Shalev, S. A., Yue, W. W., Mackinnon, S., Munro, K., Newbury-Ecob, R., Becker, K., Kim, M. J., O'Keefe, R. & Newman, W., 2016, In : Clinical Genetics.

    Research output: Contribution to journalArticle

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