Prof Raymond O'Keefe PhD

Senior Lecturer

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Publications

  1. 2020
  2. Published

    Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

    Crow, Y. J., Marshall, H., Rice, G. I., Seabra, L., Jenkinson, E. M., Baranano, K., Battini, R., Berger, A., Blair, E., Blauwblomme, T., Bolduc, F., Boddaert, N., Buckard, J., Burnett, H., Calvert, S., Caumes, R., Ng, A. C-H., Chiang, D., Clifford, D. B., Cordelli, D. M. & 48 others, de Burca, A., Demic, N., Desguerre, I., De Waele, L., Di Fonzo, A., Dunham, S. R., Dyack, S., Elmslie, F., Ferrand, M., Fisher, G., Karimiani, E. G., Ghoumid, J., Gibbon, F., Goel, H., Hilmarsen, H. T., Hughes, I., Jacob, A., Jones, E. A., Kumar, R., Leventer, R. J., MacDonald, S., Maroofian, R., Mehta, S. G., Metz, I., Monfrini, E., Neumann, D., Noetzel, M., O'Driscoll, M., Õunap, K., Panzer, A., Parikh, S., Prabhakar, P., Ramond, F., Sandford, R., Saneto, R., Soh, C., Stutterd, C. A., Subramanian, G. M., Talbot, K., Thomas, R. H., Toro, C., Touraine, R., Wakeling, E., Wassmer, E., Whitney, A., Livingston, J. H., O'Keefe, R. T. & Badrock, A. P., 7 Oct 2020, In : American Journal of Medical Genetics. Part A.

    Research output: Contribution to journalArticlepeer-review

  3. Published

    Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells

    Wood, K. A., Thomas, H. B., Woods, S., O'Flaherty, J., Douzgou, S., Kimber, S. J., Newman, W. G. & O'Keefe, R. T., 31 Jul 2020, In : PLoS ONE. 15, 7, p. e0233582

    Research output: Contribution to journalArticlepeer-review

  4. Published

    Analysis of U8 snoRNA Variants in Zebrafish Reveals how Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts

    Badrock, A., Uggenti, C., Wacheul, L., Crilly, S., Jenkinson, E., Rice, G., Kasher, P., Lafontaine, D., Crow, Y. & O'Keefe, R., 7 May 2020, In : American Journal of Human Genetics. 106, 5

    Research output: Contribution to journalArticlepeer-review

  5. Published

    EFTUD2 missense variants disrupt protein function and splicing in Mandibulofacial Dysostosis Guion-Almeida type

    Thomas, H., Wood, K., Buczek, W., Gordon, C., Pingault, V., Attie-Bitach, T., Hentges, K., Varghese, V., Amiel, J., Newman, W. & O'Keefe, R., 3 May 2020, In : Human Mutation.

    Research output: Contribution to journalArticlepeer-review

  6. Accepted/In press

    Assessment of disease-associated missense variants in RYR2 on transcript splicing

    Newman, W., Olubando, D., Venetucci, L., O'Keefe, R. & Thomas, H., 6 Apr 2020, (Accepted/In press) In : Cardiogenetics.

    Research output: Contribution to journalArticlepeer-review

  7. 2019
  8. Published

    A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.

    Newman, W., Demain, L., O'Keefe, R. & Molina Ramirez, L., 12 Dec 2019, In : Journal of Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  9. 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., 15 Nov 2019, In : Hum Mol Genet. 28, 22, p. 3704-3723 20 p.

    Research output: Contribution to journalArticlepeer-review

  10. 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 journalArticlepeer-review

  11. 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 proceedingChapterpeer-review

  12. Published

    Advanced Methods for the Analysis of Altered Pre-mRNA Splicing in Yeast and Disease

    O'Keefe, R. T. & Thomas, H., 2019, In : Methods in molecular biology (Clifton, N.J.). 2049, p. 131-140 10 p.

    Research output: Contribution to journalArticlepeer-review

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