Dr Gillian Rice

Research Fellow

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Publications

  1. 2015
  2. Published

    PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

    Mathieu, A-L., Verronese, E., Rice, G. I., Fouyssac, F., Bertrand, Y., Picard, C., Chansel, M., Walter, J. E., Notarangelo, L. D., Butte, M. J., Nadeau, K. C., Csomos, K., Chen, D. J., Chen, K., Delgado, A., Rigal, C., Bardin, C., Schuetz, C., Moshous, D., Reumaux, H. & 20 othersPlenat, F., Phan, A., Zabot, M-T., Balme, B., Viel, S., Bienvenu, J., Cochat, P., van der Burg, M., Caux, C., Kemp, E. H., Rouvet, I., Malcus, C., Méritet, J-F., Lim, A., Crow, Y. J., Fabien, N., Ménétrier-Caux, C., De Villartay, J-P., Walzer, T. & Belot, A., 1 Apr 2015, In : The Journal of allergy and clinical immunology. 135, 6

    Research output: Contribution to journalArticle

  3. Published

    Human Disease Phenotypes Associated With Mutations in TREX1.

    Rice, G. I., Rodero, M. P. & Crow, Y. J., Apr 2015, In : Journal of clinical immunology. 35, 3

    Research output: Contribution to journalArticle

  4. Published

    Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutieres syndrome

    Kasher, P. R., Jenkinson, E. M., Briolat, V., Gent, D., Morrissey, C., Zeef, L. A., Rice, G. I., Levraud, J. P. & Crow, Y. J., 15 Mar 2015, In : Journal of immunology (Baltimore, Md. : 1950). 194, 6, p. 2819-25

    Research output: Contribution to journalArticle

  5. Published

    A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

    Rutsch, F., MacDougall, M., Lu, C., Buers, I., Mamaeva, O., Nitschke, Y., Rice, G. I., Erlandsen, H., Kehl, H. G., Thiele, H., Nürnberg, P., Höhne, W., Crow, Y. J., Feigenbaum, A. & Hennekam, R. C., 5 Feb 2015, In : American Journal of Human Genetics. 96, 2

    Research output: Contribution to journalArticle

  6. Published

    Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

    Crow, Y. J., Chase, D. S., Lowenstein Schmidt, J., Szynkiewicz, M., Forte, G. M. A., Gornall, H. L., Oojageer, A., Anderson, B., Pizzino, A., Helman, G., Abdel-Hamid, M. S., Abdel-Salam, G. M., Ackroyd, S., Aeby, A., Agosta, G., Albin, C., Allon-Shalev, S., Arellano, M., Ariaudo, G., Aswani, V. & 117 othersBabul-Hirji, R., Baildam, E. M., Bahi-Buisson, N., Bailey, K. M., Barnerias, C., Barth, M., Battini, R., Beresford, M. W., Bernard, G., Bianchi, M., Billette de Villemeur, T., Blair, E. M., Bloom, M., Burlina, A. B., Carpanelli, M. L., Carvalho, D. R., Castro-Gago, M., Cavallini, A., Cereda, C., Chandler, K. E., Chitayat, D. A., Collins, A. E., Sierra Corcoles, C., Cordeiro, N. J. V., Crichiutti, G., Dabydeen, L., Dale, R. C., D'Arrigo, S., De Goede, C. G. E. L., De Laet, C., De Waele, L. M. H., Denzler, I., Desguerre, I., Devriendt, K., Di Rocco, M., Fahey, M. C., Fazzi, E., Ferrie, C. D., Figueiredo, A., Gener, B., Goizet, C., Gowrinathan, N. R., Gowrishankar, K., Hanrahan, D., Isidor, B., Kara, B., Khan, N., King, M. D., Kirk, E. P., Kumar, R., Lagae, L., Landrieu, P., Lauffer, H., Laugel, V., La Piana, R., Lim, M. J., Lin, J-P. S-M., Linnankivi, T., Mackay, M. T., Marom, D. R., Marques Lourenço, C., McKee, S. A., Moroni, I., Morton, J. E. V., Moutard, M-L., Murray, K., Nabbout, R., Nampoothiri, S., Nunez-Enamorado, N., Oades, P. J., Olivieri, I., Ostergaard, J. R., Pérez-Dueñas, B., Prendiville, J. S., Ramesh, V., Rasmussen, M., Régal, L., Ricci, F., Rio, M., Rodriguez, D., Roubertie, A., Salvatici, E., Segers, K. A., Sinha, G. P., Soler, D., Spiegel, R., Stödberg, T. I., Straussberg, R., Swoboda, K. J., Suri, M., Tacke, U., Tan, T. Y., te Water Naude, J., Wee Teik, K., Thomas, M. M., Till, M., Tonduti, D., Valente, E. M., Van Coster, R. N., van der Knaap, M. S., Vassallo, G., Vijzelaar, R., Vogt, J., Wallace, G. B., Wassmer, E., Webb, H. J., Whitehouse, W. P., Whitney, R. N., Zaki, M. S., Zuberi, S. M., Livingston, J. H., Rozenberg, F., Lebon, P., Vanderver, A., Orcesi, S., Rice, G. I. & D Arrigo, S., Feb 2015, In : American Journal of Medical Genetics. Part A. 167A, 2

    Research output: Contribution to journalArticle

  7. Published

    Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.

    Zhang, X., Bogunovic, D., Payelle-Brogard, B., Francois-Newton, V., Speer, S. D., Yuan, C., Volpi, S., Li, Z., Sanal, O., Mansouri, D., Tezcan, I., Rice, G. I., Chen, C., Mansouri, N., Mahdaviani, S. A., Itan, Y., Boisson, B., Okada, S., Zeng, L., Wang, X. & 25 othersJiang, H., Liu, W., Han, T., Liu, D., Ma, T., Wang, B., Liu, M., Liu, J-Y., Wang, Q. K., Yalnizoglu, D., Radoshevich, L., Uzé, G., Gros, P., Rozenberg, F., Zhang, S-Y., Jouanguy, E., Bustamante, J., García-Sastre, A., Abel, L., Lebon, P., Notarangelo, L. D., Crow, Y. J., Boisson-Dupuis, S., Casanova, J-L. & Pellegrini, S., 1 Jan 2015, In : Nature. 517, 7532, p. 89-93 4 p.

    Research output: Contribution to journalArticle

  8. 2014
  9. Published

    Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.

    Van Goethem, G., Livingston, J. H., Warren, D., Oojageer, A. J., Rice, G. I. & Crow, Y. J., Dec 2014, In : Pediatric neurology. 51, 6

    Research output: Contribution to journalArticle

  10. Published

    Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.

    Jeremiah, N., Neven, B., Gentili, M., Callebaut, I., Maschalidi, S., Stolzenberg, M-C., Goudin, N., Frémond, M-L., Nitschke, P., Molina, T. J., Blanche, S., Picard, C., Rice, G. I., Crow, Y. J., Manel, N., Fischer, A., Bader-Meunier, B. & Rieux-Laucat, F., Dec 2014, In : The Journal of clinical investigation. 124, 12

    Research output: Contribution to journalArticle

  11. Published

    Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

    Crow, Y. J., Zaki, M. S., Abdel-Hamid, M. S., Abdel-Salam, G., Boespflug-Tanguy, O., Cordeiro, N. J. V., Gleeson, J. G., Gowrinathan, N. R., Laugel, V., Renaldo, F., Rodriguez, D., Livingston, J. H. & Rice, G. I., Dec 2014, In : Neuropediatrics. 45, 6

    Research output: Contribution to journalArticle

  12. Published

    Mutations in CECR1 associated with a neutrophil signature in peripheral blood

    Belot, A., Wassmer, E., Twilt, M., Lega, J. C., Zeef, L. A. H., Oojageer, A., Kasher, P. R., Mathieu, A. L., Malcus, C., Demaret, J., Fabien, N., Collardeau-Frachon, S., Mechtouff, L., Derex, L., Walzer, T., Rice, G. I., Durieu, I. & Crow, Y. J., 24 Sep 2014, In : Pediatric Rheumatology. 12, 1, 44.

    Research output: Contribution to journalArticle

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