Dr Gillian Rice

Research Fellow

Affiliations:
ORCID: 0000-0002-4223-0571
Download CV
View graph of relations

Publications

1 - 10 out of 113Page size: 10
  1. 2021
  2. Published

    From diagnosis to prognosis: Revisiting the meaning of muscle ISG15 overexpression in juvenile inflammatory myopathies

    Hou, C., Durrleman, C., Periou, B., Barnerias, C., Bodemer, C., Desguerre, I., Quartier, P., Melki, I., Rice, G. I., Rodero, M. P., Charuel, J-L., Relaix, F., Bader-Meunier, B., Authier, F. J. & Gitiaux, C., Jan 2021, In: Arthritis & rheumatology (Hoboken, N.J.).

    Research output: Contribution to journal › Article › peer-review

    DOI: 10.1002/art.41625
  3. Published

    Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients

    Frémond, M-L., Hadchouel, A., Berteloot, L., Melki, I., Bresson, V., Barnabei, L., Jeremiah, N., Belot, A., Bondet, V., Brocq, O., Chan, D., Dagher, R., Dubus, J-C., Duffy, D., Feuillet-Soummer, S., Fusaro, M., Gattorno, M., Insalaco, A., Jeziorski, E., Kitabayashi, N. & 24 others, Lopez-Corbeto, M., Mazingue, F., Morren, M-A., Rice, G. I., Rivière, J. G., Seabra, L., Sirvente, J., Soler-Palacin, P., Stremler-Le Bel, N., Thouvenin, G., Thumerelle, C., Van Aerde, E., Volpi, S., Willcocks, S., Wouters, C., Breton, S., Molina, T., Bader-Meunier, B., Moshous, D., Fischer, A., Blanche, S., Rieux-Laucat, F., Crow, Y. J. & Neven, B., 2021, In: The journal of allergy and clinical immunology. In practice.

    Research output: Contribution to journal › Article › peer-review

    DOI: 10.1016/j.jaip.2020.11.007
  4. 2020
  5. Published

    cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

    Uggenti, C., Lepelley, A., Depp, M., Badrock, A. P., Rodero, M. P., El-Daher, M-T., Rice, G. I., Dhir, S., Wheeler, A. P., Dhir, A., Albawardi, W., Fremond, M-L., Seabra, L., Doig, J., Blair, N., Martin-Niclos, M. J., Della Mina, E., Rubio-Roldan, A., Garcia-Perez, J. L., Sproul, D. & 36 others, Rehwinkel, J., Hertzog, J., Boland-Auge, A., Olaso, R., Deleuze, J-F., Baruteau, J., Brochard, K., Buckley, J., Cavallera, V., Cereda, C., De Waele, L. M. H., Dobbie, A., Doummar, D., Elmslie, F., Koch-Hogrebe, M., Kumar, R., Lamb, K., Livingston, J. H., Majumdar, A., Lorenco, C. M., Orcesi, S., Peudenier, S., Rostasy, K., Salmon, C. A., Scott, C., Tonduti, D., Touati, G., Valente, M., van der Linden, H. J., Van Esch, H., Vermelle, M., Webb, K., Jackson, A. P., Reijns, M. A. M., Gilbert, N. & Crow, Y. J., 1 Dec 2020, In: Nature Genetics. 52, 12, p. 1364-1372 9 p.

    Research output: Contribution to journal › Article › peer-review

    DOI: 10.1038/s41588-020-00737-3
  6. Published

    JAK Inhibition in the Aicardi-Goutieres Syndrome

    Neven, B., Al Adba, B., Hully, M., Desguerre, I., Pressiat, C., Boddaert, N., Duffy, D., Rice, G. I., Seabra, L., Fremond, M-L., Blanche, S. & Crow, Y. J., 26 Nov 2020, In: New England Journal Of Medicine. 383, 22, p. 2190-2193

    Research output: Contribution to journal › Letter › peer-review

    DOI: 10.1056/NEJMc2031081
  7. Published

    Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

    Lepelley, A., Martin-Niclos, M. J., Le Bihan, M., Marsh, J. A., Uggenti, C., Rice, G. I., Bondet, V., Duffy, D., Hertzog, J., Rehwinkel, J., Amselem, S., Boulisfane-El Khalifi, S., Brennan, M., Carter, E., Chatenoud, L., Chhun, S., l'Hermine, A. C., Depp, M., Legendre, M., Mackenzie, K. J. & 12 others, Marey, J., McDougall, C., McKenzie, K. J., Molina, T. J., Neven, B., Seabra, L., Thumerelle, C., Wislez, M., Nathan, N., Manel, N., Crow, Y. J. & Fremond, M-L., 2 Nov 2020, In: Journal of Experimental Medicine. 217, 11

    Research output: Contribution to journal › Article › peer-review

    DOI: 10.1084/jem.20200600
  8. 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 journal › Article › peer-review

    DOI: 10.1002/ajmg.a.61907
  9. Published

    Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature

    De Luca, C., Crow, Y. J., Rodero, M., Rice, G. I., Ahmed, M., Lammens, M., De Cock, P., Van Esch, H., Lagae, L. & Rochtus, A., 11 May 2020, In: Clinical Genetics.

    Research output: Contribution to journal › Review article › peer-review

    DOI: 10.1111/cge.13761
  10. Published

    Clinical Reasoning: A 25-year-old woman with recurrent episodes of collapse and loss of consciousness

    Wildman, J., Baker, M. R., Price, D. A., Tiwari, S., Kumar, H., Rice, G. I., Crow, Y. J. & Thomas, R. H., 1 May 2020, In: Neurology.

    Research output: Contribution to journal › Article › peer-review

    DOI: 10.1212/WNL.0000000000009533
  11. Published

    Biallelic mutations in NRROS cause an early onset lethal microgliopathy

    Smith, C., McColl, B. W., Patir, A., Barrington, J., Armishaw, J., Clarke, A., Eaton, J., Hobbs, V., Mansour, S., Nolan, M., Rice, G. I., Rodero, M. P., Seabra, L., Uggenti, C., Livingston, J. H., Bridges, L. R., Jeffrey, I. J. M. & Crow, Y. J., May 2020, In: Acta Neuropathologica. 139, 5, p. 947-951 5 p.

    Research output: Contribution to journal › Letter › peer-review

    DOI: 10.1007/s00401-020-02137-7
  12. 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., 30 Apr 2020, In: American Journal of Human Genetics. 106, 5, p. 694-706 13 p.

    Research output: Contribution to journal › Article › peer-review

    DOI: 10.1016/j.ajhg.2020.04.003
Previous 1 2 3 4 5 6 7 8 ...12 Next

Research Explorer downloads

430
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Research output: Contribution to journal › Article › peer-review

278
Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children

Research output: Contribution to journal › Letter › peer-review

211
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

Research output: Contribution to journal › Article › peer-review

204
Expression of Cyclic GMP-AMP Synthase in Patients With Systemic Lupus Erythematosus

Research output: Contribution to journal › Article › peer-review

160
Autosomal dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function

Research output: Contribution to journal › Article › peer-review