Dr Gillian Rice

Research Fellow

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Publications

  1. 2012
  2. Published

    Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type i interferon signature

    Rice, G. I., Kasher, P. R., Forte, G. M. A., Mannion, N. M., Greenwood, S. M., Szynkiewicz, M., Dickerson, J. E., Bhaskar, S. S., Zampini, M., Briggs, T. A., Jenkinson, E. M., Bacino, C. A., Battini, R., Bertini, E., Brogan, P. A., Brueton, L. A., Carpanelli, M., De Laet, C., De Lonlay, P., Del Toro, M. & 34 othersDesguerre, I., Fazzi, E., Garcia-Cazorla, À., Heiberg, A., Kawaguchi, M., Kumar, R., Lin, J. P. S. M., Lourenco, C. M., Male, A. M., Marques, W., Mignot, C., Olivieri, I., Orcesi, S., Prabhakar, P., Rasmussen, M., Robinson, R. A., Rozenberg, F., Schmidt, J. L., Steindl, K., Tan, T. Y., Van Der Merwe, W. G., Vanderver, A., Vassallo, G., Wakeling, E. L., Wassmer, E., Whittaker, E., Livingston, J. H., Lebon, P., Suzuki, T., McLaughlin, P. J., Keegan, L. P., O'Connell, M. A., Lovell, S. C. & Crow, Y. J., Nov 2012, In : Nature Genetics. 44, 11, p. 1243-1248 5 p.

    Research output: Contribution to journalArticle

  3. Published

    SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4 + T-cells

    Descours, B., Cribier, A., Chable-Bessia, C., Ayinde, D., Rice, G., Crow, Y., Yatim, A., Schwartz, O., Laguette, N. & Benkirane, M., 23 Oct 2012, In : Retrovirology. 9, 87.

    Research output: Contribution to journalArticle

  4. Published

    SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations

    Goncalves, A., Karayel, E., Rice, G. I., Bennett, K. L., Crow, Y. J., Superti-Furga, G. & Bürckstümmer, T., Jul 2012, In : Human Mutation. 33, 7, p. 1116-1122 6 p.

    Research output: Contribution to journalArticle

  5. Published

    Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

    Anderson, B., Kasher, P. R., Mayer, J., Szynkiewicz, M., Jenkinson, E. M., Bhaskar, S. S., Urquhart, J. E., Daly, S. B., Dickerson, J. E., O'Sullivan, J., Leibundgut, E. O., Muter, J., Abdel-Salem, G. M. H., Babul-Hirji, R., Baxter, P., Berger, A., Bonafé, L., Brunstom-Hernandez, J. E., Buckard, J. A., Chitayat, D. & 45 othersChong, W. K., Cordelli, D. M., Ferreira, P., Fluss, J., Forrest, E. H., Franzoni, E., Garone, C., Hammans, S. R., Houge, G., Hughes, I., Jacquemont, S., Jeannet, P. Y., Jefferson, R. J., Kumar, R., Kutschke, G., Lundberg, S., Loureno, C. M., Mehta, R., Naidu, S., Nischal, K. K., Nunes, L., Ounap, K., Philippart, M., Prabhakar, P., Risen, S. R., Schiffmann, R., Soh, C., Stephenson, J. B. P., Stewart, H., Stone, J., Tolmie, J. L., Van Der Knaap, M. S., Vieira, J. P., Vilain, C. N., Wakeling, E. L., Wermenbol, V., Whitney, A., Lovell, S. C., Meyer, S., Livingston, J. H., Baerlocher, G. M., Black, G. C. M., Rice, G. I., Yanick, J. & Lourenço, C. M., Mar 2012, In : Nature Genetics. 44, 3, p. 338-342 4 p.

    Research output: Contribution to journalArticle

  6. 2011
  7. Published

    HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

    Goldstone, D. C., Ennis-Adeniran, V., Hedden, J. J., Groom, H. C. T., Rice, G. I., Christodoulou, E., Walker, P. A., Kelly, G., Haire, L. F., Yap, M. W., De Carvalho, L. P. S., Stoye, J. P., Crow, Y. J., Taylor, I. A. & Webb, M., 15 Dec 2011, In : Nature. 480, 7377, p. 379-382 3 p.

    Research output: Contribution to journalArticle

  8. Published

    A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema.

    Cilia La Corte, A. L., Carter, A. M., Rice, G. I., Duan, Q. L., Rouleau, G. A., Adam, A., Grant, P. J. & Hooper, N. M., Nov 2011, In : Human Mutation. 32, 11, p. 1326-1331 5 p.

    Research output: Contribution to journalArticle

  9. Published

    Neprilysin, obesity and the metabolic syndrome.

    Standeven, K. F., Hess, K., Carter, A. M., Rice, G. I., Cordell, P. A., Balmforth, A. J., Lu, B., Scott, D. J., Turner, A. J., Hooper, N. M. & Grant, P. J., Aug 2011, In : International journal of obesity (2005). 35, 8

    Research output: Contribution to journalArticle

  10. Published

    Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

    Banka, S., Blom, H. J., Walter, J., Aziz, M., Urquhart, J., Clouthier, C. M., Rice, G. I., De Brouwer, A. P. M., Hilton, E., Vassallo, G., Will, A., Smith, D. E. C., Smulders, Y. M., Wevers, R. A., Steinfeld, R., Heales, S., Crow, Y. J., Pelletier, J. N., Jones, S. & Newman, W. G., 11 Feb 2011, In : American Journal of Human Genetics. 88, 2, p. 216-225 9 p.

    Research output: Contribution to journalArticle

  11. Published

    Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type i interferon expression signature

    Briggs, T. A., Rice, G. I., Daly, S., Urquhart, J., Gornall, H., Bader-Meunier, B., Baskar, K., Baskar, S., Baudouin, V., Beresford, M. W., Black, G. C. M., Dearman, R. J., De Zegher, F., Foster, E. S., Francés, C., Hayman, A. R., Hilton, E., Job-Deslandre, C., Kulkarni, M. L., Le Merrer, M. & 20 othersLinglart, A., Lovell, S. C., Maurer, K., Musset, L., Navarro, V., Picard, C., Puel, A., Rieux-Laucat, F., Roifman, C. M., Scholl-Bürgi, S., Smith, N., Szynkiewicz, M., Wiedeman, A., Wouters, C., Zeef, L. A. H., Casanova, J. L., Elkon, K. B., Janckila, A., Lebon, P. & Crow, Y. J., Feb 2011, In : Nature Genetics. 43, 2, p. 127-131 4 p.

    Research output: Contribution to journalArticle

  12. Published

    Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

    Ravenscroft, J. C., Suri, M., Rice, G. I., Szynkiewicz, M. & Crow, Y. J., Jan 2011, In : American Journal of Medical Genetics, Part A. 155, 1, p. 235-237 2 p.

    Research output: Contribution to journalArticle

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