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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 1
1983 1
1985 1
1989 2
1993 1
1994 1
1995 3
1996 4
1999 2
2000 2
2001 1
2003 5
2004 6
2005 5
2006 5
2007 6
2008 5
2009 4
2010 11
2011 9
2012 7
2013 8
2014 8
2015 8
2016 11
2017 17
2018 9
2019 14
2020 8
2021 13
2022 8
2023 9
2024 5

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181 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.
European consensus-based recommendations for diagnosis and treatment of immunoglobulin A vasculitis-the SHARE initiative.
Ozen S, Marks SD, Brogan P, Groot N, de Graeff N, Avcin T, Bader-Meunier B, Dolezalova P, Feldman BM, Kone-Paut I, Lahdenne P, McCann L, Pilkington C, Ravelli A, van Royen A, Uziel Y, Vastert B, Wulffraat N, Kamphuis S, Beresford MW. Ozen S, et al. Among authors: pilkington c. Rheumatology (Oxford). 2019 Sep 1;58(9):1607-1616. doi: 10.1093/rheumatology/kez041. Rheumatology (Oxford). 2019. PMID: 30879080
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: pilkington c. 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.
2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups.
Lundberg IE, Tjärnlund A, Bottai M, Werth VP, Pilkington C, Visser M, Alfredsson L, Amato AA, Barohn RJ, Liang MH, Singh JA, Aggarwal R, Arnardottir S, Chinoy H, Cooper RG, Dankó K, Dimachkie MM, Feldman BM, Torre IG, Gordon P, Hayashi T, Katz JD, Kohsaka H, Lachenbruch PA, Lang BA, Li Y, Oddis CV, Olesinska M, Reed AM, Rutkowska-Sak L, Sanner H, Selva-O'Callaghan A, Song YW, Vencovsky J, Ytterberg SR, Miller FW, Rider LG; International Myositis Classification Criteria Project consortium, The Euromyositis register and The Juvenile Dermatomyositis Cohort Biomarker Study and Repository (JDRG) (UK and Ireland). Lundberg IE, et al. Among authors: pilkington c. Ann Rheum Dis. 2017 Dec;76(12):1955-1964. doi: 10.1136/annrheumdis-2017-211468. Epub 2017 Oct 27. Ann Rheum Dis. 2017. PMID: 29079590 Free PMC article.
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: pilkington c. 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.
European evidence-based recommendations for diagnosis and treatment of childhood-onset systemic lupus erythematosus: the SHARE initiative.
Groot N, de Graeff N, Avcin T, Bader-Meunier B, Brogan P, Dolezalova P, Feldman B, Kone-Paut I, Lahdenne P, Marks SD, McCann L, Ozen S, Pilkington C, Ravelli A, Royen-Kerkhof AV, Uziel Y, Vastert B, Wulffraat N, Kamphuis S, Beresford MW. Groot N, et al. Among authors: pilkington c. Ann Rheum Dis. 2017 Nov;76(11):1788-1796. doi: 10.1136/annrheumdis-2016-210960. Epub 2017 Jun 19. Ann Rheum Dis. 2017. PMID: 28630236 Free article.
Safety and efficacy of intravenous belimumab in children with systemic lupus erythematosus: results from a randomised, placebo-controlled trial.
Brunner HI, Abud-Mendoza C, Viola DO, Calvo Penades I, Levy D, Anton J, Calderon JE, Chasnyk VG, Ferrandiz MA, Keltsev V, Paz Gastanaga ME, Shishov M, Boteanu AL, Henrickson M, Bass D, Clark K, Hammer A, Ji BN, Nino A, Roth DA, Struemper H, Wang ML, Martini A, Lovell D, Ruperto N; Paediatric Rheumatology International Trials Organisation (PRINTO) and the Pediatric Rheumatology Collaborative Study Group (PRCSG). Brunner HI, et al. Ann Rheum Dis. 2020 Oct;79(10):1340-1348. doi: 10.1136/annrheumdis-2020-217101. Epub 2020 Jul 22. Ann Rheum Dis. 2020. PMID: 32699034 Free PMC article. Clinical Trial.
British Society for Rheumatology guideline on management of paediatric, adolescent and adult patients with idiopathic inflammatory myopathy.
Oldroyd AGS, Lilleker JB, Amin T, Aragon O, Bechman K, Cuthbert V, Galloway J, Gordon P, Gregory WJ, Gunawardena H, Hanna MG, Isenberg D, Jackman J, Kiely PDW, Livermore P, Machado PM, Maillard S, McHugh N, Murphy R, Pilkington C, Prabu A, Rushe P, Spinty S, Swan J, Tahir H, Tansley SL, Truepenny P, Truepenny Y, Warrier K, Yates M, Papadopoulou C, Martin N, McCann L, Chinoy H; British Society for Rheumatology Standards, Audit and Guidelines Working Group. Oldroyd AGS, et al. Among authors: pilkington c. Rheumatology (Oxford). 2022 May 5;61(5):1760-1768. doi: 10.1093/rheumatology/keac115. Rheumatology (Oxford). 2022. PMID: 35355064 Free PMC article. No abstract available.
European consensus-based recommendations for the diagnosis and treatment of Kawasaki disease - the SHARE initiative.
de Graeff N, Groot N, Ozen S, Eleftheriou D, Avcin T, Bader-Meunier B, Dolezalova P, Feldman BM, Kone-Paut I, Lahdenne P, McCann L, Pilkington C, Ravelli A, van Royen-Kerkhof A, Uziel Y, Vastert B, Wulffraat N, Kamphuis S, Brogan P, Beresford MW. de Graeff N, et al. Among authors: pilkington c. Rheumatology (Oxford). 2019 Apr 1;58(4):672-682. doi: 10.1093/rheumatology/key344. Rheumatology (Oxford). 2019. PMID: 30535127
European evidence-based recommendations for the diagnosis and treatment of childhood-onset lupus nephritis: the SHARE initiative.
Groot N, de Graeff N, Marks SD, Brogan P, Avcin T, Bader-Meunier B, Dolezalova P, Feldman BM, Kone-Paut I, Lahdenne P, McCann L, Özen S, Pilkington CA, Ravelli A, Royen-Kerkhof AV, Uziel Y, Vastert BJ, Wulffraat NM, Beresford MW, Kamphuis S. Groot N, et al. Among authors: pilkington ca. Ann Rheum Dis. 2017 Dec;76(12):1965-1973. doi: 10.1136/annrheumdis-2017-211898. Epub 2017 Sep 6. Ann Rheum Dis. 2017. PMID: 28877866 Free article.
181 results