Dr Gillian Rice

Research Fellow

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Publications

  1. 2019
  2. Accepted/In press

    RNASEH2B related adult onset interferonopathy

    Briggs, T., Paul, A., Rice, G. & Herrick, A., 19 Jul 2019, (Accepted/In press) In : Journal of Clinical Immunology.

    Research output: Contribution to journalLetter

  3. Published

    A child with severe juvenile dermatomyositis treated with ruxolitinib (vol 141, pg e80, 2018)

    Aeschlimann, F. A., Fremond, M-L., Duffy, D., Rice, G. I., Charuel, J-L., Bondet, V., Saire, E., Neven, B., Bodemer, C., Balu, L., Gitiaux, C., Crow, Y. J. & Bader-Meunier, B., Jan 2019, In : Brain. 142, p. e3-e3

    Research output: Contribution to journalArticle

  4. Published

    Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

    Gratia, M., Rodero, M. P., Conrad, C., Bou Samra, E., Maurin, M., Rice, G. I., Duffy, D., Revy, P., Petit, F., Dale, R. C., Crow, Y. J., Amor-Gueret, M. & Manel, N., 2019, In : The Journal of experimental medicine.

    Research output: Contribution to journalArticle

  5. Published

    Type I interferon in patients with systemic autoimmune rheumatic disease is associated with haematological abnormalities and specific autoantibody profiles

    Reynolds, J., Briggs, T., Rice, G., Darmalinggam, S., Bondet, V., Bruce, E., Khan, M., Haque, S., Chinoy, H., Herrick, A., Mccarthy, E., Zeef, L., Hayes, A., Duffy, D., Parker, B. & Bruce, I., 2019, In : Arthritis Research and Therapy. 21, 1, 147.

    Research output: Contribution to journalArticle

  6. 2018
  7. Published

    Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

    Rice, G. I., Meyzer, C., Bouazza, N., Hully, M., Boddaert, N., Semeraro, M., Zeef, L. A. H., Rozenberg, F., Bondet, V., Duffy, D., Llibre, A., Baek, J., Sambe, M. N., Henry, E., Jolaine, V., Barnerias, C., Barth, M., Belot, A., Cances, C., Debray, F-G. & 19 othersDoummar, D., Frémond, M-L., Kitabayashi, N., Lepelley, A., Levrat, V., Melki, I., Meyer, P., Nougues, M-C., Renaldo, F., Rodero, M. P., Rodriguez, D., Roubertie, A., Seabra, L., Uggenti, C., Abdoul, H., Treluyer, J-M., Desguerre, I., Blanche, S. & Crow, Y. J., 6 Dec 2018, In : The New England Journal of Medicine. 379, 23, p. 2275-7 3 p.

    Research output: Contribution to journalLetter

  8. Published

    VARIABLE EXPRESSION IN SAMHD1 - ASSOCIATED FAMILIAL AICARDI-GOUTIERES SYNDROME

    Glanzmann, B., Abraham, D. R., Moller, M., Glashoff, R., van Coller, A., Uren, C., Durrheim, G., Urban, M., Hoal, E. G., Esser, M. M., Rice, G. I., Crow, Y. J. & Kinnear, C. J., 1 Dec 2018, In : Current Allergy & Clinical Immunology. 31, 4, p. 265-270

    Research output: Contribution to journalArticle

  9. Published

    Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis

    AGS study group, Dec 2018, In : Medicine (Philadelphia). 97, 52, p. e13893

    Research output: Contribution to journalArticle

  10. Published

    A child with severe juvenile dermatomyositis treated with ruxolitinib

    Aeschlimann, F. A., Frémond, M., Duffy, D., Rice, G. I., Charuel, J., Bondet, V., Saire, E., Neven, B., Bodemer, C., Balu, L., Gitiaux, C., Crow, Y. J. & Bader-meunier, B., 1 Nov 2018, In : Brain. 141, 11, p. e80

    Research output: Contribution to journalArticle

  11. Published

    JAK 1/2 Blockade in MDA5 Gain-of-Function

    McLellan, K. E., Martin, N., Davidson, J. E., Cordeiro, N., Oates, B. D., Neven, B., Rice, G. I. & Crow, Y. J., Nov 2018, In : Journal of clinical immunology. 38, 8, p. 844-846

    Research output: Contribution to journalLetter

  12. Published

    Combination of exome sequencing and immune testing confirms Aicardi–Goutières syndrome type 5 in a challenging pediatric neurology case

    Haskell, G. T., Mori, M., Powell, C., Amrhein, T. J., Rice, G. I., Bailey, L., Strande, N., Weck, K. E., Evans, J. P., Berg, J. S. & Kishnani, P., 1 Oct 2018, In : Cold Spring Harbor Molecular Case Studies . 4, 5, p. a002758

    Research output: Contribution to journalArticle

  13. Accepted/In press

    LUPUS ENGELURE FAMILIAL SUR TROIS GENERATIONS : A PROPOS DE QUATRE CAS

    Beltoise, A., Audouin-pajot, C., Lucas, P., Tournier, E., Rice, G., Crow, Y. & Mazereeuw-hautier, J., 25 Sep 2018, (Accepted/In press) In : Annales de Dermatologie et de Venereologie.

    Research output: Contribution to journalArticle

  14. Published

    COPA syndrome restricted to life-threatening alveolar hemorrhages: clinical, pathological, molecular and biological characterization

    Nathan, N., Legendre, M., Amselem, S., Clement, A., Filhol-Blin, E., Richard, N., Roullaud, S., Fayon, M., Rice, G. I., Duffy, D., Bondet, V., L'Hermine, A. C., Neven, B., Fremond, M-L. & Crow, Y. J., 15 Sep 2018, In : European Respiratory Journal. 52

    Research output: Contribution to journalMeeting Abstract

  15. Published

    Measurement of Interferon Alpha Expression Using Multiple Methodologies Identifies a Signature in a Subgroup of Connective Tissue Disease Patients with Haematological Abnormalities

    Reynolds, J. A., Briggs, T. A., Rice, G., Bruce, E., Haque, S., McCarthy, E., Herrick, A. L., Chinoy, H., Duffy, D., Crow, Y. J., Parker, B. & Bruce, I. N., Sep 2018, In : Arthritis & Rheumatology (Hoboken). 70

    Research output: Contribution to journalMeeting Abstract

  16. E-pub ahead of print

    Comment on: 'Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors' by Giannelou et al: mutations in TRNT1 result in a constitutive activation of type I interferon signalling

    Frémond, M-L., Melki, I., Kracker, S., Bondet, V., Duffy, D., Rice, G. I., Crow, Y. J. & Bader-Meunier, B., 1 Jun 2018, In : Annals of the rheumatic diseases.

    Research output: Contribution to journalLetter

  17. Published

    An open label trial of JAK 1/2 blockade in progressive IFIH1 associated neuroinflammation

    Kothur, K., Bandodkar, S., Chu, S., Wienholt, L., Johnson, A., Barclay, P., Brogan, P. A., Rice, G., Crow, Y. & Dale, R. C., 2018, In : Neurology .

    Research output: Contribution to journalArticle

  18. Published

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

    Ruaud, L., Rice, G., Cabrol, C., Piard, J., Rodero, M., van Eyk, L., Boucher-Brischoux, E., Maertens de Noordhout, A., Mare, R., Scalais, E., Pauly, F., Debray, F. G., Dobyns, W. B., Uggenti, C., Park, J. W., Hur, S., Livingstone, J. H., Crow, Y. & Van Maldergem, L., 2018, In : Human Mutation. 39, 8

    Research output: Contribution to journalArticle

  19. Published

    Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency

    Briand, C., Frémond, M., Bessis, D., Carbasse, A., Rice, G. I., Bondet, V., Duffy, D., Chatenoud, L., Blanche, S., Crow, Y. J. & Neven, B., 2018, In : Annals of the rheumatic diseases. p. annrheumdis-2018-214037

    Research output: Contribution to journalLetter

  20. Published

    Lupus-engelures familial : quatre cas sur trois générations

    Beltoise, A., Audouin-pajot, C., Lucas, P., Tournier, E., Rice, G., Crow, Y. & Mazereeuw-hautier, J., 2018, In : Annales de Dermatologie et de Venereologie.

    Research output: Contribution to journalArticle

  21. Published

    Mitochondrial double-stranded RNA triggers antiviral signalling in humans

    Dhir, A., Dhir, S., Borowski, L. S., Jimenez, L., Teitell, M., Rötig, A., Crow, Y. J., Rice, G. I., Duffy, D., Tamby, C., Nojima, T., Munnich, A., Schiff, M., De Almeida, C. R., Rehwinkel, J., Dziembowski, A., Szczesny, R. J. & Proudfoot, N. J., 2018, In : Nature.

    Research output: Contribution to journalArticle

  22. 2017
  23. Published

    A New Cause of Mendelian Lupus Due to IKZF1 Mutation Underlines the B Cell Landscape Heterogeneity in Monogenic Lupus

    Belot, A., Frachette, C., Ommar, O. S., Mathieu, A-L., Andrieu, T., Mondier, P., Rice, G., Reumaux, H., Launay, D., Lambert, M., Lefevre, G., Fabien, N., Malcus, C., Rouvet, I., Chopin, E., Michallet, A-S., Defrance, T., Walzer, T. & Crow, Y. J., Oct 2017, In : Arthritis & Rheumatology (Hoboken). 69

    Research output: Contribution to journalMeeting Abstract

  24. Published

    Detection of interferon alpha protein reveals differential levels and cellular sources in disease

    Rodero, M. P., Decalf, J., Bondet, V., Hunt, D., Rice, G., Werneke, S., McGlasson, S. L., Alyanakian, M-A., Bader-Meunier, B., Barnerias, C., Bellon, N., Belot, A., Bodemer, C., Briggs, T., Desguerre, I., Frémond, M-L., Hully, M., van den Maagdenberg, A. M. J. M., Melki, I., Meyts, I. & 15 othersMusset, L., Pelzer, N., Quartier, P., Terwindt, G. M., Wardlaw, J., Wiseman, S., Rieux-Laucat, F., Rose, Y., Neven, B., Hertel, C., Hayday, A., Albert, M. L., Rozenberg, F., Crow, Y. J. & Duffy, D., May 2017, In : Journal of Experimental Medicine. 214, 5

    Research output: Contribution to journalArticle

  25. Published

    MDA5-associated neuroinflammation and the Singleton-Merten syndrome: two faces of the same type I interferonopathy spectrum

    Buers, I., Rice, G., Crow, Y. & Rutsch, F., May 2017, In : Journal of Interferon & Cytokine Research . 37, 5, p. 214-219 6 p.

    Research output: Contribution to journalArticle

  26. Published

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

    An, J., Durcan, L., Karr, R. M., Briggs, T. A., Rice, G. I., Teal, T. H., Woodward, J. J. & Elkon, K. B., Apr 2017, In : Arthritis & rheumatology (Hoboken, N.J.). 69, 4, p. 800-807

    Research output: Contribution to journalArticle

  27. Published
  28. Published

    Assessment of type I interferon signaling in pediatric inflammatory disease

    Rice, G., Melki, I., Frémond, M-L., Briggs, T., Rodero, M. P., Kitabayashi, N., Oojageer, A., Bader-Meunier, B., Belot, A., Bodemer, C., Quartier, P. & Crow, Y., 28 Feb 2017, In : Journal of Clinical Immunology. 37, 2

    Research output: Contribution to journalArticle

  29. Published

    EFFICACY OF THE JAK INHIBITOR RUXOLITINIB IN TWO PATIENTS WITH SAVI SYNDROME

    Volpi, S., Caorsi, R., Picco, P., Sacco, O., Terheggen-Lagro, S., Minoia, F., Cardinale, F., Derchi, M., Santori, E., Pastorino, C., Ricci, M., Rice, G. I., Martini, A., Crow, Y., Candotti, F. & Gattorno, M., Feb 2017, In : Journal of clinical immunology. 37, 2, p. 233-234

    Research output: Contribution to journalMeeting Abstract

  30. Published

    Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria

    Jenkinson, E., Livingston, J. H., O'Driscoll, M. C., Desguerre, I., Nabbout, R., Boddaert, N., Soares, G., Gonçalves da Rocha, M., D'Arrigo, S., Rice, G. & Crow, Y., 2017, In : Clinical Genetics.

    Research output: Contribution to journalArticle

  31. Published

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

    Melki, I., Rose, Y., Uggenti, C., Van Eyck, L., Frémond, M-L., Kitabayashi, N., Rice, G. I., Jenkinson, E. M., Boulai, A., Jeremiah, N., Gattorno, M., Volpi, S., Sacco, O., Terheggen-Lagro, S. W. J., Tiddens, H. A. W. M., Meyts, I., Morren, M-A., De Haes, P., Wouters, C., Legius, E. & 6 othersCorveleyn, A., Rieux-Laucat, F., Bodemer, C., Callebaut, I., Rodero, M. P. & Crow, Y. J., 2017, In : The Journal of allergy and clinical immunology.

    Research output: Contribution to journalArticle

  32. Published

    Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

    Rice, G., Kitabayashi, N., Barth, M., Briggs, T., Burton, A. C. E., Luisa Carpanelli, M., Cerisola, A. M., Colson, C., Dale, R. C., Danti, F. R., Darin, N., De Azua, B., De Giorgis, V., De Goede, C. G. E. L., Desguerre, I., De Laet, C., Eslahi, A., Fahey, M. C., Fallon, P., Fay, A. J. & 32 othersFazzi, E., Gorman, M. P., Gowrinathan, N. R., Hully, M., Kurian, M. A., Leboucq, N., Lin, J-P. S-M., Lines, M. A., Mar, S. S., Maroofian, R., Martí-Sanchez, L., McCullagh, G., Mojarrad, M., Narayanan, V., Orcesi, S., Ortigoza-Escobar, J. D., Pérez-Dueñas, B., Petit, F., Ramsey, K. M., Rasmussen, M., Rivier, F., Rodríguez-Pombo, P., Roubertie, A., Stödberg, T. I., Beiraghi Toosi, M., Toutain, A., Uettwiller, F., Ulrick, N., Vanderver, A., Waldman, A., Livingston, J. H. & Crow, Y., 2017, In : Neuropediatrics. 48, 3, p. 166-184 17 p.

    Research output: Contribution to journalArticle

  33. Published

    Musculoskeletal disease in MDA5-related type I interferonopathy – a Mendelian mimic of Jaccoud’s arthropathy

    Martins de Carvalho, L., Ngoumou, G., Park, J. W., Ehmke, N., Deigendesch, N., Kitabayashi, N., Melki, I., Souza, F. F. L., Tzschach, A., Nogueira-Barbosa, M. H., Ferriani, V., Louzada-Junior, P., Marques Junior, W., Lourenco, C. M., Horn, D., Kallinich, T., Stenzel, W., Hur, S., Rice, G. & Crow, Y., 2017, In : Arthritis & Rheumatology (Hoboken) .

    Research output: Contribution to journalArticle

  34. Published

    Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus

    An, J., Briggs, T., Dumax-Vorzet, A., Alarcón-Riquelme, M. E., Belot, A., Beresford, M., Bruce, I., Carvalho, C., Chaperot, L., Frostegård, J., Plumas, J., Rice, G., Vyse, T. J., Wiedeman, A., Crow, Y. & Elkon, K. B., 2017, In : Arthritis and Rheumatology. 69, 1, p. 131-142

    Research output: Contribution to journalArticle

  35. Published

    Type I interferon mediated autoinflammation due to DNase II deficiency

    Rodero, M. P., Tesser, A., Bartok, E., Rice, G., Della Mina, E., Depp, M., Beitz, B., Bondet, V., Cagnard, N., Duffy, D., Dussiot, M., Fremond, M-L., Gattorno, M., Guillem, F., Kitabayashi, N., Porcheray, F., Rieux-Laucat, F., Seabra, L., Uggenti, C., Volpi, S. & 37 othersZeef, L., Alyanakian, M-A., Beltrand, J., Bianco, A. M., Boddaert, N., Brouzes, C., Candon, S., Caorsi, R., Charbit, M., Fabre, M., Faletra, F., Girard, M., Harroche, A., Hartmann, E., Lasne, D., Marcuzzi, A., Neven, B., Nitschke, P., Pascreau, T., Pastore, S., Picard, C., Picco, P. P., Piscianz, E., Polak, M., Quartier, P., Rabant, M., Stocco, G., Taddio, A., Uettwiller, F., Valencic, E., Vozzi, D., Hartmann, G., Barchet, W., Hermine, O., Bader-Meunier, B., Tommasini, A. & Crow, Y., 2017, In : Nature Communications. 8, 2176.

    Research output: Contribution to journalArticle

  36. 2016
  37. Published

    Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

    Bursztejn, A-C., Briggs, T., Del Toro Duany, Y., Anderson, B., O'Sullivan, J., Williams, S., Bodemer, C., Fraitag, S., Gebhard, F., Leheup, B., Lemelle, I., Oojageer, A., Raffo, E., Schmitt, E., Rice, G. I., Hur, S. & Crow, Y., 28 Dec 2016, In : The British journal of dermatology. 173, 6, p. 1505–1513

    Research output: Contribution to journalArticle

  38. Published

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

    Frémond, M-L., Rodero, M. P., Jeremiah, N., Belot, A., Jeziorski, E., Duffy, D., Bessis, D., Cros, G., Rice, G. I., Charbit, B., Hulin, A., Khoudour, N., Caballero, C. M., Bodemer, C., Fabre, M., Berteloot, L., Le Bourgeois, M., Reix, P., Walzer, T., Moshous, D. & 6 othersBlanche, S., Fischer, A., Bader-Meunier, B., Rieux-Laucat, F., Crow, Y. J. & Neven, B., 1 Dec 2016, In : The Journal of allergy and clinical immunology. 138, 6, p. 1752-1755 4 p.

    Research output: Contribution to journalLetter

  39. Published

    Vitamin D Deficiency Is Associated With Endothelial Dysfunction and Increases Type-1 Interferon Gene Expression in a Murine Model of Systemic Lupus Erythematosus

    Reynolds, J. A., Rosenberg, A. Z., Smith, C. K., Sergeant, J. C., Rice, G. I., Briggs, T. A., Bruce, I. N. & Kaplan, M. J., 1 Dec 2016, In : Arthritis and Rheumatology. 68, 12, p. 2929-2935 7 p.

    Research output: Contribution to journalArticle

  40. Published

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

    Jenkinson, E., Rodero, M. P., Kasher, P., Uggenti, C., Oojageer, A., Goosey, L., Rose, Y., Urquhart, J., Williams, S., Bhaskar, S. S., O'Sullivan, J., Baerlocher, G. M., Haubitz, M., Aubert, G., Barañano, K. W., Barnicoat, A. J., Battini, R., Berger, A., Blair, E. M., Brunstrom-Hernandez, J. E. & 46 othersBuckard, J. A., Cassiman, D. M., Caumes, R., Cordelli, D. M., De Waele, L. M., Fay, A. J., Ferreira, P., Fletcher, N. A., Fryer, A. E., Goel, H., Hemingway, C. A., Henneke, M., Hughes, I., Jefferson, R. J., Kumar, R., Lagae, L., Landrieu, P. G., Lourenço, C. M., Malpas, T. J., Mehta, S. G., Metz, I., Naidu, S., Õunap, K., Panzer, A., Prabhakar, P., Quaghebeur, G., Schiffmann, R., Sherr, E. H., Sinnathuray, K. R., Soh, C., Stewart, H., Stone, J., Van Esch, H., Van Mol, C. E. G., Vanderver, A., Wakeling, E. L., Whitney, A., Pavitt, G., Griffiths-Jones, S., Rice, G., Revy, P., van der Knaap, M. S., Livingston, J. H., O'Keefe, R., Crow, Y. & Kershaw, C., 19 Sep 2016, In : Nature Genetics. 48, 2, p. 1185–1192 11 p.

    Research output: Contribution to journalArticle

  41. Published

    Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome

    Tonduti, D., Orcesi, S., Jenkinson, E. M., Dorboz, I., Renaldo, F., Panteghini, C., Rice, G. I., Henneke, M., Livingston, J. H., Elmaleh, M., Burglen, L., Willemsen, M. A., Chiapparini, L., Garavaglia, B., Rodriguez, D., Boespflug-Tanguy, O., Moroni, I. & Crow, Y. J., Jul 2016, In : European Journal of Paediatric Neurology. 20, 4, p. 604-10

    Research output: Contribution to journalArticle

  42. Published

    Spondyloenchondrodysplasia due to mutations in ACP5: A comprehensive survey.

    Briggs, T., Rice, G., Adib, N., Ades, L., Barete, S., Baskar, K., Baudouin, V., Cebeci, A. N., Clapuyt, P., Coman, D., De Somer, L., Finezilber, Y., Frydman, M., Guven, A., Heritier, S., Karall, D., Kulkarni, M. L., Lebon, P., Levitt, D., Le Merrer, M. & 11 othersLinglart, A., Livingston, J. H., Navarro, V., Okenfuss, E., Puel, A., Revencu, N., Scholl-Bürgi, S., Vivarelli, M., Wouters, C., Bader-Meunier, B. & Crow, Y., Apr 2016, In : Journal of Clinical Immunology. 36, 3, p. 220–234

    Research output: Contribution to journalArticle

  43. 2015
  44. Published

    Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies.

    Cuadrado, E., Vanderver, A., Brown, K. J., Sandza, A., Takanohashi, A., Jansen, M. H., Anink, J., Herron, B., Orcesi, S., Olivieri, I., Rice, G. I., Aronica, E., Lebon, P., Crow, Y. J., Hol, E. M. & Kuijpers, T. W., Oct 2015, In : Annals of the rheumatic diseases. 74, 10

    Research output: Contribution to journalArticle

  45. Published

    Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis.

    Munoz, J., Rodière, M., Jeremiah, N., Rieux-Laucat, F., Oojageer, A., Rice, G. I., Rozenberg, F., Crow, Y. J. & Bessis, D., Aug 2015, In : JAMA dermatology. 151, 8

    Research output: Contribution to journalArticle

  46. 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

  47. 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

  48. 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

  49. 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

  50. 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

  51. 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

  52. 2014
  53. 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

  54. 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

  55. 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

  56. 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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