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Year Number of Results
1973 1
1984 2
1989 2
1991 1
1992 1
1993 2
1994 1
1995 1
1998 3
1999 2
2000 5
2001 5
2002 2
2003 3
2004 7
2005 4
2006 4
2007 6
2008 8
2009 13
2010 12
2011 8
2012 11
2013 17
2014 15
2015 18
2016 12
2017 17
2018 23
2019 16
2020 12
2021 15
2022 10
2023 7
2024 13
2025 16

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264 results

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Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Juvenile dermatomyositis. Where are we now?
McCann LJ, Livermore P, Wilkinson MGL, Wedderburn LR. McCann LJ, et al. Among authors: wedderburn lr. Clin Exp Rheumatol. 2022 Feb;40(2):394-403. doi: 10.55563/clinexprheumatol/56ilob. Epub 2022 Feb 7. Clin Exp Rheumatol. 2022. PMID: 35225221 Free article. Review.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque … See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: wedderburn lr. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Consensus-based recommendations for the management of juvenile dermatomyositis.
Bellutti Enders F, Bader-Meunier B, Baildam E, Constantin T, Dolezalova P, Feldman BM, Lahdenne P, Magnusson B, Nistala K, Ozen S, Pilkington C, Ravelli A, Russo R, Uziel Y, van Brussel M, van der Net J, Vastert S, Wedderburn LR, Wulffraat N, McCann LJ, van Royen-Kerkhof A. Bellutti Enders F, et al. Among authors: wedderburn lr. Ann Rheum Dis. 2017 Feb;76(2):329-340. doi: 10.1136/annrheumdis-2016-209247. Epub 2016 Aug 11. Ann Rheum Dis. 2017. PMID: 27515057 Free PMC article. Review.
Microbiota-Derived Metabolites Suppress Arthritis by Amplifying Aryl-Hydrocarbon Receptor Activation in Regulatory B Cells.
Rosser EC, Piper CJM, Matei DE, Blair PA, Rendeiro AF, Orford M, Alber DG, Krausgruber T, Catalan D, Klein N, Manson JJ, Drozdov I, Bock C, Wedderburn LR, Eaton S, Mauri C. Rosser EC, et al. Among authors: wedderburn lr. Cell Metab. 2020 Apr 7;31(4):837-851.e10. doi: 10.1016/j.cmet.2020.03.003. Epub 2020 Mar 25. Cell Metab. 2020. PMID: 32213346 Free PMC article.
Severe delayed hypersensitivity reactions to IL-1 and IL-6 inhibitors link to common HLA-DRB1*15 alleles.
Saper VE, Ombrello MJ, Tremoulet AH, Montero-Martin G, Prahalad S, Canna S, Shimizu C, Deutsch G, Tan SY, Remmers EF, Monos D, Hahn T, Phadke OK, Cassidy E, Ferguson I, Mallajosyula V, Xu J, Rosa Duque JS, Chua GT, Ghosh D, Szymanski AM, Rubin D, Burns JC, Tian L, Fernandez-Vina MA, Mellins ED, Hollenbach JA; Drug Hypersensitivity Consortium; INCHARGE Consortium. Saper VE, et al. Ann Rheum Dis. 2022 Mar;81(3):406-415. doi: 10.1136/annrheumdis-2021-220578. Epub 2021 Nov 17. Ann Rheum Dis. 2022. PMID: 34789453 Free PMC article.
An update on autoantibodies in the idiopathic inflammatory myopathies.
Allameen NA, Ramos-Lisbona AI, Wedderburn LR, Lundberg IE, Isenberg DA. Allameen NA, et al. Among authors: wedderburn lr. Nat Rev Rheumatol. 2025 Jan;21(1):46-62. doi: 10.1038/s41584-024-01188-4. Epub 2024 Nov 28. Nat Rev Rheumatol. 2025. PMID: 39609638 Review.
Comparison of clinical features between patients with anti-synthetase syndrome and dermatomyositis: results from the MYONET registry.
Hum RM, Lilleker JB, Lamb JA, Oldroyd AGS, Wang G, Wedderburn LR, Diederichsen LP, Schmidt J, Danieli MG, Oakley P, Griger Z, Nguyen Thi Phuong T, Kodishala C, Vazquez-Del Mercado M, Andersson H, De Paepe B, De Bleecker JL, Maurer B, McCann L, Pipitone N, McHugh N, New RP, Ollier WE, Krogh NS, Vencovsky J, Lundberg IE, Chinoy H; MYONET Registry. Hum RM, et al. Among authors: wedderburn lr. Rheumatology (Oxford). 2024 Aug 1;63(8):2093-2100. doi: 10.1093/rheumatology/kead481. Rheumatology (Oxford). 2024. PMID: 37698987 Free PMC article.
Stopping of adalimumab in juvenile idiopathic arthritis-associated uveitis (ADJUST): a multicentre, double-masked, randomised controlled trial.
Acharya NR, Ramanan AV, Coyne AB, Dudum KL, Rubio EM, Woods SM, Guly CM, Moraitis E, Petrushkin HJD, Armon K, Puvanachandra N, Choi JT, Hawley DP, Arnold BF; ADJUST Study Group. Acharya NR, et al. Lancet. 2025 Jan 25;405(10475):303-313. doi: 10.1016/S0140-6736(24)02468-1. Lancet. 2025. PMID: 39863370 Free article. Clinical Trial.
264 results