Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature GI Rice, PR Kasher, GMA Forte, NM Mannion, SM Greenwood, ... Nature genetics 44 (11), 1243-1248, 2012 | 844 | 2012 |
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response GI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ... Nature genetics 41 (7), 829-832, 2009 | 784 | 2009 |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007 | 466 | 2007 |
Detection of interferon alpha protein reveals differential levels and cellular sources in disease MP Rodero, J Decalf, V Bondet, D Hunt, GI Rice, S Werneke, ... Journal of experimental medicine 214 (5), 1547-1555, 2017 | 343 | 2017 |
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature TA Briggs, GI Rice, S Daly, J Urquhart, H Gornall, B Bader-Meunier, ... Nature genetics 43 (2), 127-131, 2011 | 258 | 2011 |
Assessment of type I interferon signaling in pediatric inflammatory disease GI Rice, I Melki, ML Frémond, TA Briggs, MP Rodero, N Kitabayashi, ... Journal of clinical immunology 37, 123-132, 2017 | 181 | 2017 |
Expression of cyclic GMP‐AMP synthase in patients with systemic lupus erythematosus J An, L Durcan, RM Karr, TA Briggs, GI Rice, TH Teal, JJ Woodward, ... Arthritis & rheumatology 69 (4), 800-807, 2017 | 147 | 2017 |
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease B Dorjbal, JR Stinson, CA Ma, MA Weinreich, B Miraghazadeh, ... Journal of Allergy and Clinical Immunology 143 (4), 1482-1495, 2019 | 133 | 2019 |
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) TA Briggs, GMH Abdel‐Salam, M Balicki, P Baxter, E Bertini, N Bishop, ... American journal of medical genetics Part A 146 (2), 182-190, 2008 | 111 | 2008 |
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients A Beleza-Meireles, R Hart, J Clayton-Smith, R Oliveira, CF Reis, ... European journal of medical genetics 58 (9), 455-465, 2015 | 105 | 2015 |
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2 CJA Duncan, BJ Thompson, R Chen, GI Rice, F Gothe, DF Young, ... Science immunology 4 (42), eaav7501, 2019 | 94 | 2019 |
Long COVID risk-a signal to address sex hormones and women's health S Stewart, L Newson, TA Briggs, D Grammatopoulos, L Young, P Gill The Lancet Regional Health–Europe 11, 2021 | 86 | 2021 |
Unusual cutaneous features associated with a heterozygous gain‐of‐function mutation in IFIH1: overlap between Aicardi‐Goutières and Singleton‐Merten … AC Bursztejn, TA Briggs, Y del Toro Duany, BH Anderson, J O'Sullivan, ... British Journal of Dermatology 173 (6), 1505-1513, 2015 | 84 | 2015 |
Hereditary alpha-tryptasemia: UK prevalence and variability in disease expression RC Robey, A Wilcock, H Bonin, G Beaman, B Myers, C Grattan, TA Briggs, ... The Journal of Allergy and Clinical Immunology: In Practice 8 (10), 3549-3556, 2020 | 83 | 2020 |
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey TA Briggs, GI Rice, N Adib, L Ades, S Barete, K Baskar, V Baudouin, ... Journal of clinical immunology 36, 220-234, 2016 | 79 | 2016 |
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum MS Reuter, A Riess, U Moog, TA Briggs, KE Chandler, A Rauch, ... Journal of medical genetics 54 (1), 64-72, 2017 | 78 | 2017 |
Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function GI Rice, S Park, F Gavazzi, LA Adang, LA Ayuk, L Van Eyck, L Seabra, ... Human mutation 41 (4), 837-849, 2020 | 73 | 2020 |
Genetic, phenotypic, and interferon biomarker status in ADAR1-related neurological disease GI Rice, N Kitabayashi, M Barth, TA Briggs, ACE Burton, ML Carpanelli, ... Neuropediatrics 48 (03), 166-184, 2017 | 69 | 2017 |
'Reluctant pioneer': A qualitative study of doctors' experiences as patients with long COVID AK Taylor, T Kingstone, TA Briggs, CA O'Donnell, H Atherton, DN Blane, ... Health Expectations 24 (3), 833-842, 2021 | 68 | 2021 |
From doctors as patients: a manifesto for tackling persisting symptoms of covid-19 NA Alwan, E Attree, JM Blair, D Bogaert, MA Bowen, J Boyle, M Bradman, ... Bmj 370, 2020 | 62 | 2020 |