Dr Gillian Rice
Research Fellow
Publications
- 2021
- 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 - 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, , 2021, In: The journal of allergy and clinical immunology. In practice.Research output: Contribution to journal › Article › peer-review
- 2020
- 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, , 1 Dec 2020, In: Nature Genetics. 52, 12, p. 1364-1372 9 p.Research output: Contribution to journal › Article › peer-review
- 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. 2190-2193Research output: Contribution to journal › Letter › peer-review
DOI: 10.1056/NEJMc2031081 - 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, , 2 Nov 2020, In: Journal of Experimental Medicine. 217, 11Research output: Contribution to journal › Article › peer-review
DOI: 10.1084/jem.20200600 - 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, , 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 - 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 - 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
- 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
- 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
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Research output: Contribution to journal › Article › peer-review
Research output: Contribution to journal › Article › peer-review
Research output: Contribution to journal › Article › peer-review