Dr Gillian Rice

Research Fellow

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Publications

  1. 2014
  2. Published

    Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.

    Livingston, J. H., Mayer, J., Jenkinson, E., Kasher, P., Stivaros, S., Berger, A., Cordelli, D. M., Ferreira, P., Jefferson, R., Kutschke, G., Lundberg, S., Ounap, K., Prabhakar, P., Soh, C., Stewart, H., Stone, J., van der Knaap, M. S., van Esch, H., van Mol, C., Wakeling, E. & 3 othersWhitney, A., Rice, G. I. & Crow, Y. J., Jun 2014, In : Neuropediatrics. 45, 3, p. 175-182 7 p.

    Research output: Contribution to journalArticle

  3. Published

    Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

    Rice, G., del Toro Duany, Y., Jenkinson, E., Forte, G., Anderson, B., Ariaudo, G., Bader-Meunier, B., Baildam, E. M., Battini, R., Beresford, M. W., Casarano, M., Chouchane, M., Cimaz, R., Collins, A. E., Cordeiro, N. J. V., Dale, R. C., Davidson, J. E., De Waele, L., Desguerre, I., Faivre, L. & 33 othersFazzi, E., Isidor, B., Lagae, L., Latchman, A. R., Lebon, P., Li, C., Livingston, J. H., Lourenço, C. M., Mancardi, M. M., Masurel-Paulet, A., McInnes, I. B., Menezes, M. P., Mignot, C., O'Sullivan, J., Orcesi, S., Picco, P. P., Riva, E., Robinson, R. A., Rodriguez, D., Salvatici, E., Scott, C., Szybowska, M., Tolmie, J. L., Vanderver, A., Vanhulle, C., Vieira, J. P., Webb, K., Whitney, R. N., Williams, S., Wolfe, L. A., Zuberi, S. M., Hur, S. & Crow, Y., May 2014, In : Nature Genetics. 46, 5, p. 503-509 6 p.

    Research output: Contribution to journalArticle

  4. Published

    A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

    Livingston, J. H., Lin, J-P., Dale, R. C., Gill, D., Brogan, P., Munnich, A., Kurian, M. A., Gonzalez-Martinez, V., De Goede, C. G. E. L., Falconer, A., Forte, G., Jenkinson, E. M., Kasher, P. R., Szynkiewicz, M., Rice, G. I. & Crow, Y. J., Feb 2014, In : Journal of Medical Genetics. 51, 2, p. 76-82 6 p.

    Research output: Contribution to journalArticle

  5. Published

    Therapies in Aicardi-Goutières syndrome

    Crow, Y., Vanderver, A., Orcesi, S., Kuijpers, T. W. & Rice, G. I., Jan 2014, In : Clinical and experimental immunology. 175, 1, p. 1-8 7 p.

    Research output: Contribution to journalArticle

  6. Published

    The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

    Eckard, S. C., Rice, G. I., Fabre, A., Badens, C., Gray, E. E., Hartley, J. L., Crow, Y. J. & Stetson, D. B., 2014, In : Nature Immunology. 15, 9, p. 839-845 6 p.

    Research output: Contribution to journalArticle

  7. 2013
  8. Published

    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: A case-control study

    Rice, G. I., Forte, G. M. A., Szynkiewicz, M., Chase, D. S., Aeby, A., Abdel-Hamid, M. S., Ackroyd, S., Allcock, R., Bailey, K. M., Balottin, U., Barnerias, C., Bernard, G., Bodemer, C., Botella, M. P., Cereda, C., Chandler, K. E., Dabydeen, L., Dale, R. C., De Laet, C., De Goede, C. G. E. L. & 36 othersdel Toro, M., Effat, L., Enamorado, N. N., Fazzi, E., Gener, B., Haldre, M., Lin, J. P. S. M., Livingston, J. H., Lourenco, C. M., Marques, W., Oades, P., Peterson, P., Rasmussen, M., Roubertie, A., Schmidt, J. L., Shalev, S. A., Simon, R., Spiegel, R., Swoboda, K. J., Temtamy, S. A., Vassallo, G., Vilain, C. N., Vogt, J., Wermenbol, V., Whitehouse, W. P., Soler, D., Olivieri, I., Orcesi, S., Aglan, M. S., Zaki, M. S., Abdel-Salam, G. M. H., Vanderver, A., Kisand, K., Rozenberg, F., Lebon, P. & Crow, Y. J., Dec 2013, In : The Lancet Neurology. 12, 12, p. 1159-1169 10 p.

    Research output: Contribution to journalArticle

  9. Published

    Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.

    Belot, A., Kasher, P. R., Trotter, E. W., Foray, A-P., Debaud, A-L., Rice, G. I., Szynkiewicz, M., Zabot, M-T., Rouvet, I., Bhaskar, S. S., Daly, S. B., Dickerson, J. E., Mayer, J., O'Sullivan, J., Juillard, L., Urquhart, J. E., Fawdar, S., Marusiak, A. A., Stephenson, N., Waszkowycz, B. & 15 othersW Beresford, M., Biesecker, L. G., C M Black, G., René, C., Eliaou, J-F., Fabien, N., Ranchin, B., Cochat, P., Gaffney, P. M., Rozenberg, F., Lebon, P., Malcus, C., Crow, Y. J., Brognard, J. & Bonnefoy, N., Aug 2013, In : Arthritis Care & Research. 65, 8, p. 2161-2171 10 p.

    Research output: Contribution to journalArticle

  10. Published

    Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in aicardi-Goutières syndrome

    Crow, Y., Rice, G. I., Reijns, M. A. M., Coffin, S. R., Forte, G. M. A., Anderson, B., Szynkiewicz, M., Gornall, H., Gent, D., Leitch, A., Botella, M. P., Fazzi, E., Gener, B., Lagae, L., Olivieri, I., Orcesi, S., Swoboda, K. J., Perrino, F. W., Jackson, A. P. & Crow, Y. J., Aug 2013, In : Human Mutation. 34, 8, p. 1066-1070 4 p.

    Research output: Contribution to journalArticle

  11. Published

    Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy.

    Troedson, C., Wong, M., Dalby-Payne, J., Wilson, M., Dexter, M., Rice, G. I., Crow, Y. J. & Dale, R. C., May 2013, In : Lupus. 22, 6, p. 639-643 4 p.

    Research output: Contribution to journalArticle

  12. Published

    Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome.

    Takanohashi, A., Prust, M., Wang, J., Gordish-Dressman, H., Bloom, M., Rice, G. I., Schmidt, J. L., Crow, Y. J., Lebon, P., Kuijpers, T. W., Nagaraju, K. & Vanderver, A., 12 Mar 2013, In : Neurology. 80, 11, p. 997-1002 5 p.

    Research output: Contribution to journalArticle