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

  57. Published

    Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.

    Livingston, J. H., Mayer, J., Jenkinson, E., Kasher, P., Stivaros, S., Berger, A., Cordelli, D. M., Ferreira, P., Jefferson, R., Kutschke, G., Lundberg, S., Ounap, K., Prabhakar, P., Soh, C., Stewart, H., Stone, J., van der Knaap, M. S., van Esch, H., van Mol, C., Wakeling, E. & 3 othersWhitney, A., Rice, G. I. & Crow, Y. J., Jun 2014, In : Neuropediatrics. 45, 3, p. 175-182 7 p.

    Research output: Contribution to journalArticle

  58. Published

    Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

    Rice, G., del Toro Duany, Y., Jenkinson, E., Forte, G., Anderson, B., Ariaudo, G., Bader-Meunier, B., Baildam, E. M., Battini, R., Beresford, M. W., Casarano, M., Chouchane, M., Cimaz, R., Collins, A. E., Cordeiro, N. J. V., Dale, R. C., Davidson, J. E., De Waele, L., Desguerre, I., Faivre, L. & 33 othersFazzi, E., Isidor, B., Lagae, L., Latchman, A. R., Lebon, P., Li, C., Livingston, J. H., Lourenço, C. M., Mancardi, M. M., Masurel-Paulet, A., McInnes, I. B., Menezes, M. P., Mignot, C., O'Sullivan, J., Orcesi, S., Picco, P. P., Riva, E., Robinson, R. A., Rodriguez, D., Salvatici, E., Scott, C., Szybowska, M., Tolmie, J. L., Vanderver, A., Vanhulle, C., Vieira, J. P., Webb, K., Whitney, R. N., Williams, S., Wolfe, L. A., Zuberi, S. M., Hur, S. & Crow, Y., May 2014, In : Nature Genetics. 46, 5, p. 503-509 6 p.

    Research output: Contribution to journalArticle

  59. Published

    A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

    Livingston, J. H., Lin, J-P., Dale, R. C., Gill, D., Brogan, P., Munnich, A., Kurian, M. A., Gonzalez-Martinez, V., De Goede, C. G. E. L., Falconer, A., Forte, G., Jenkinson, E. M., Kasher, P. R., Szynkiewicz, M., Rice, G. I. & Crow, Y. J., Feb 2014, In : Journal of Medical Genetics. 51, 2, p. 76-82 6 p.

    Research output: Contribution to journalArticle

  60. Published

    Therapies in Aicardi-Goutières syndrome

    Crow, Y., Vanderver, A., Orcesi, S., Kuijpers, T. W. & Rice, G. I., Jan 2014, In : Clinical and experimental immunology. 175, 1, p. 1-8 7 p.

    Research output: Contribution to journalArticle

  61. Published

    The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

    Eckard, S. C., Rice, G. I., Fabre, A., Badens, C., Gray, E. E., Hartley, J. L., Crow, Y. J. & Stetson, D. B., 2014, In : Nature Immunology. 15, 9, p. 839-845 6 p.

    Research output: Contribution to journalArticle

  62. 2013
  63. Published

    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: A case-control study

    Rice, G. I., Forte, G. M. A., Szynkiewicz, M., Chase, D. S., Aeby, A., Abdel-Hamid, M. S., Ackroyd, S., Allcock, R., Bailey, K. M., Balottin, U., Barnerias, C., Bernard, G., Bodemer, C., Botella, M. P., Cereda, C., Chandler, K. E., Dabydeen, L., Dale, R. C., De Laet, C., De Goede, C. G. E. L. & 36 othersdel Toro, M., Effat, L., Enamorado, N. N., Fazzi, E., Gener, B., Haldre, M., Lin, J. P. S. M., Livingston, J. H., Lourenco, C. M., Marques, W., Oades, P., Peterson, P., Rasmussen, M., Roubertie, A., Schmidt, J. L., Shalev, S. A., Simon, R., Spiegel, R., Swoboda, K. J., Temtamy, S. A., Vassallo, G., Vilain, C. N., Vogt, J., Wermenbol, V., Whitehouse, W. P., Soler, D., Olivieri, I., Orcesi, S., Aglan, M. S., Zaki, M. S., Abdel-Salam, G. M. H., Vanderver, A., Kisand, K., Rozenberg, F., Lebon, P. & Crow, Y. J., Dec 2013, In : The Lancet Neurology. 12, 12, p. 1159-1169 10 p.

    Research output: Contribution to journalArticle

  64. Published

    Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.

    Belot, A., Kasher, P. R., Trotter, E. W., Foray, A-P., Debaud, A-L., Rice, G. I., Szynkiewicz, M., Zabot, M-T., Rouvet, I., Bhaskar, S. S., Daly, S. B., Dickerson, J. E., Mayer, J., O'Sullivan, J., Juillard, L., Urquhart, J. E., Fawdar, S., Marusiak, A. A., Stephenson, N., Waszkowycz, B. & 15 othersW Beresford, M., Biesecker, L. G., C M Black, G., René, C., Eliaou, J-F., Fabien, N., Ranchin, B., Cochat, P., Gaffney, P. M., Rozenberg, F., Lebon, P., Malcus, C., Crow, Y. J., Brognard, J. & Bonnefoy, N., Aug 2013, In : Arthritis Care & Research. 65, 8, p. 2161-2171 10 p.

    Research output: Contribution to journalArticle

  65. Published

    Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in aicardi-Goutières syndrome

    Crow, Y., Rice, G. I., Reijns, M. A. M., Coffin, S. R., Forte, G. M. A., Anderson, B., Szynkiewicz, M., Gornall, H., Gent, D., Leitch, A., Botella, M. P., Fazzi, E., Gener, B., Lagae, L., Olivieri, I., Orcesi, S., Swoboda, K. J., Perrino, F. W., Jackson, A. P. & Crow, Y. J., Aug 2013, In : Human Mutation. 34, 8, p. 1066-1070 4 p.

    Research output: Contribution to journalArticle

  66. Published

    Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy.

    Troedson, C., Wong, M., Dalby-Payne, J., Wilson, M., Dexter, M., Rice, G. I., Crow, Y. J. & Dale, R. C., May 2013, In : Lupus. 22, 6, p. 639-643 4 p.

    Research output: Contribution to journalArticle

  67. Published

    Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome.

    Takanohashi, A., Prust, M., Wang, J., Gordish-Dressman, H., Bloom, M., Rice, G. I., Schmidt, J. L., Crow, Y. J., Lebon, P., Kuijpers, T. W., Nagaraju, K. & Vanderver, A., 12 Mar 2013, In : Neurology. 80, 11, p. 997-1002 5 p.

    Research output: Contribution to journalArticle

  68. 2012
  69. 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

  70. 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

  71. 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

  72. 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

  73. 2011
  74. 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

  75. 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

  76. 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

  77. 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

  78. 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

  79. 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

  80. Published

    COL4A1 mutations associated with a characteristic pattern of intracranial calcification

    Livingston, J., Doherty, D., Orcesi, S., Tonduti, D., Piechiecchio, A., La Piana, R., Tournier-Lasserve, E., Majumdar, A., Tomkins, S., Rice, G., Kneen, R., Van Der Knaap, M. & Crow, Y., 2011, In : Neuropediatrics. 42, 6, p. 227-233 6 p.

    Research output: Contribution to journalArticle

  81. 2010
  82. Published

    A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome

    Haaxma, C. A., Crow, Y. J., Van Steensel, M. A. M., Lammens, M. M. Y., Rice, G. I., Verbeek, M. M. & Willemsen, M. A. A. P., Oct 2010, In : American Journal of Medical Genetics, Part A. 152, 10, p. 2612-2617 5 p.

    Research output: Contribution to journalArticle

  83. Published

    Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.

    Ramesh, V., Bernardi, B., Stafa, A., Garone, C., Franzoni, E., Abinun, M., Mitchell, P., Mitra, D., Friswell, M., Nelson, J., Shalev, S. A., Rice, G. I., Gornall, H., Szynkiewicz, M., Aymard, F., Ganesan, V., Prendiville, J., Livingston, J. H. & Crow, Y. J., Aug 2010, In : Developmental medicine and child neurology. 52, 8, p. 725-732 7 p.

    Research output: Contribution to journalArticle

  84. Published

    Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures

    Dale, R. C., Gornall, H., Singh-Grewal, D., Alcausin, M., Rice, G. I. & Crow, Y. J., Apr 2010, In : American Journal of Medical Genetics, Part A. 152, 4, p. 938-942 4 p.

    Research output: Contribution to journalArticle

  85. Published

    Chilblains as a diagnostic sign of aicardi-goutiéres syndrome

    Abdel-Salam, G. M. H., El-Kamah, G. Y., Rice, G. I., El-Darouti, M., Gornall, H., Szynkiewicz, M., Aymard, F., Zaki, M. S., Abdel-Aleem, A. K., Lebon, P. & Crow, Y. J., 2010, In : Neuropediatrics. 41, 1, p. 18-23 5 p.

    Research output: Contribution to journalArticle

  86. 2009
  87. Published

    Aicardi-Goutières syndrome presenting with haematemesis in infancy.

    Hall, D., Rice, G. I., Akbar, N., Meager, A., Crow, Y. J. & Lim, M. J., Dec 2009, In : Acta paediatrica (Oslo, Norway : 1992). 98, 12, p. 2005-2008 3 p.

    Research output: Contribution to journalArticle

  88. 2008
  89. Published

    Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype

    Crow, Y., Briggs, T. A., Wolf, N. I., D'Arrigo, S., Ebinger, F., Harting, I., Dobyns, W. B., Livingston, J. H., Rice, G. I., Crooks, D., Rowland-Hill, C. A., Squier, W., Stoodley, N., Pilz, D. T. & Crow, Y. J., 15 Dec 2008, In : American Journal of Medical Genetics, Part A. 146, 24, p. 3173-3180 7 p.

    Research output: Contribution to journalArticle

  90. Published

    Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation.

    Navarro, V., Scott, C., Briggs, T. A., Barete, S., Frances, C., Lebon, P., Maisonobe, T., Rice, G. I., Wouters, C. H. & Crow, Y. J., 1 Nov 2008, In : American Journal of Medical Genetics. Part A. 146A, 21, p. 2810-2815 5 p.

    Research output: Contribution to journalArticle

  91. Published

    Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy

    Orcesi, S., Pessagno, A., Biancheri, R., La Piana, R., Mascaretti, M., Rossi, A., Rice, G. I., Crow, Y. J., Fazzi, E. & Veneselli, E., Sep 2008, In : European Journal of Paediatric Neurology. 12, 5, p. 408-411 3 p.

    Research output: Contribution to journalArticle

  92. Published

    Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus.

    Kolivras, A., Aeby, A., Crow, Y. J., Rice, G. I., Sass, U. & André, J., Aug 2008, In : Journal of Cutaneous Pathology. 35, 8, p. 774-778 4 p.

    Research output: Contribution to journalArticle

  93. Published

    A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.

    Chappell, L., Gorman, S., Campbell, F., Ellard, S., Rice, G., Dobbie, A. & Crow, Y., 1 Jul 2008, In : American Journal of Medical Genetics. Part A. 146A, 13, p. 1713-1717 4 p.

    Research output: Contribution to journalArticle

  94. Published

    Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC)

    Crow, Y., Briggs, T. A., Abdel-Salam, G. M. H., Balicki, M., Baxter, P., Bertini, E., Bishop, N., Browne, B. H., Chitayat, D., Chong, W. K., Eid, M. M., Halliday, W., Hughes, I., Klusmann-Koy, A., Kurian, M., Nischal, K. K., Rice, G. I., Stephenson, J. B. P., Surtees, R., Talbot, J. F. & 5 othersTehrani, N. N., Tolmie, J. L., Toomes, C., Van Der Knaap, M. S. & Crow, Y. J., 15 Jan 2008, In : American Journal of Medical Genetics, Part A. 146, 2, p. 182-190 8 p.

    Research output: Contribution to journalArticle

  95. Published

    Aicardi-Goutières syndrome: Description of a late onset case

    D'arrigo, S., Riva, D., Bulgheroni, S., Chiapparini, L., Lebon, P., Rice, G., Crow, Y. J. & Pantaleoni, C., 2008, In : Developmental medicine and child neurology. 50, 8, p. 631-634 3 p.

    Research output: Contribution to journalArticle

  96. 2007
  97. Published

    Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

    Rice, G., Patrick, T., Parmar, R., Taylor, C. F., Aeby, A., Aicardi, J., Artuch, R., Montalto, S. A., Bacino, C. A., Barroso, B., Baxter, P., Benko, W. S., Bergmann, C., Bertini, E., Biancheri, R., Blair, E. M., Blau, N., Bonthron, D. T., Briggs, T., Brueton, L. A. & 100 othersBrunner, H. G., Burke, C. J., Carr, I. M., Carvalho, D. R., Chandler, K. E., Christen, H-J., Corry, P. C., Cowan, F. M., Cox, H., D'Arrigo, S., Dean, J., De Laet, C., De Praeter, C., Dery, C., Ferrie, C. D., Flintoff, K., Frints, S. G. M., Garcia-Cazorla, A., Gener, B., Goizet, C., Goutieres, F., Green, A. J., Guet, A., Hamel, B. C. J., Hayward, B. E., Heiberg, A., Hennekam, R. C., Husson, M., Jackson, A. P., Jayatunga, R., Jiang, Y-H., Kant, S. G., Kao, A., King, M. D., Kingston, H. M., Klepper, J., van der Knaap, M. S., Kornberg, A. J., Kotzot, D., Kratzer, W., Lacombe, D., Lagae, L., Landrieu, P. G., Lanzi, G., Leitch, A., Lim, M. J., Livingston, J. H., Lourenco, C. M., Lyall, E. G. H., Lynch, S. A., Lyons, M. J., Marom, D., McClure, J. P., McWilliam, R., Melancon, S. B., Mewasingh, L. D., Moutard, M-L., Nischal, K. K., Ostergaard, J. R., Prendiville, J., Rasmussen, M., Rogers, R. C., Roland, D., Rosser, E. M., Rostasy, K., Roubertie, A., Sanchis, A., Schiffmann, R., Scholl-Burgi, S., Seal, S., Shalev, S. A., Corcoles, C. S., Sinha, G. P., Soler, D., Spiegel, R., Stephenson, J. B. P., Tacke, U., Tan, T. Y., Till, M., Tolmie, J. L., Tomlin, P., Vagnarelli, F., Valente, E. M., Van Coster, R. N. A., Van der Aa, N., Vanderver, A., Vles, J. S. H., Voit, T., Wassmer, E., Weschke, B., Whiteford, M. L., Willemsen, M. A. A., Zankl, A., Zuberi, S. M., Orcesi, S., Fazzi, E., Lebon, P., Crow, Y. J., Østergaard, J. R. & Tiong, Y. T., Oct 2007, In : American Journal of Human Genetics. 81, 4, p. 713-725 12 p.

    Research output: Contribution to journalArticle

  98. Published

    Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome

    Rice, G., Newman, W. G., Dean, J., Patrick, T., Parmar, R., Flintoff, K., Robins, P., Harvey, S., Hollis, T., O'Hara, A., Herrick, A. L., Bowden, A. P., Perrino, F. W., Lindahl, T., Barnes, D. E. & Crow, Y. J., Apr 2007, In : American Journal of Human Genetics. 80, 4, p. 811-815 4 p.

    Research output: Contribution to journalArticle

  99. 2006
  100. Published

    Circulating activities of angiotensin-converting enzyme, its homolog, angiotensin-converting enzyme 2, and neprilysin in a family study

    Rice, G. I., Jones, A. L., Grant, P. J., Carter, A. M., Turner, A. J. & Hooper, N. M., Nov 2006, In : Hypertension. 48, 5, p. 914-920 6 p.

    Research output: Contribution to journalArticle

  101. 2004
  102. Published

    Evaluation of angiotensin-converting enzyme (ACE), its homologue ACE2 and neprilysin in angiotensin peptide metabolism.

    Rice, G. I., Thomas, D. A., Grant, P. J., Turner, A. J. & Hooper, N. M., 1 Oct 2004, In : The Biochemical Journal. 383, Pt 1

    Research output: Contribution to journalArticle

  103. 2001
  104. Published

    Human endothelial cell-derived nuclear proteins that recognise polymorphic DNA elements in the von Willebrand factor gene promoter include YY1.

    Costa, M., Grant, P. J., Rice, G. I., Futers, T. S. & Medcalf, R. L., Aug 2001, In : Thrombosis and Haemostasis. 86, 2

    Research output: Contribution to journalArticle

  105. 1999
  106. Published

    Angiotensin converting enzyme and angiotensin II type 1-receptor gene polymorphisms and risk of ischaemic heart disease.

    Rice, G. I., Foy, C. A. & Grant, P. J., Mar 1999, In : Cardiovascular research. 41, 3

    Research output: Contribution to journalArticle

  107. 1998
  108. Published

    FVIII coagulant activity and antigen in subjects with ischaemic heart disease.

    Rice, G. I. & Grant, P. J., Nov 1998, In : Thrombosis and Haemostasis. 80, 5

    Research output: Contribution to journalArticle

  109. 1997
  110. Published

    The paraoxonase Gln-Arg 192 polymorphism in subjects with ischaemic heart disease.

    Rice, G. I., Ossei-Gerning, N., Stickland, M. H. & Grant, P. J., 3 Nov 1997, In : Coronary Artery Disease. 8, 11-12

    Research output: Contribution to journalArticle