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Year Number of Results
1988 1
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1999 3
2000 4
2001 1
2002 1
2003 2
2004 6
2005 6
2006 3
2007 10
2008 11
2009 12
2010 15
2011 9
2012 10
2013 13
2014 7
2015 8
2016 3
2017 5
2018 7
2019 10
2020 9
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170 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.
Diagnosing and managing bronchiolitis obliterans in children.
Kavaliunaite E, Aurora P. Kavaliunaite E, et al. Among authors: aurora p. Expert Rev Respir Med. 2019 May;13(5):481-488. doi: 10.1080/17476348.2019.1586537. Epub 2019 Mar 8. Expert Rev Respir Med. 2019. PMID: 30798629 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: aurora p. 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.
Dominant and recessive SLC12A2-syndrome.
McNeill A, Aurora P, Rajput K, Nash R, Stals K, Robinson H, Wakeling E. McNeill A, et al. Among authors: aurora p. Am J Med Genet A. 2022 Mar;188(3):996-999. doi: 10.1002/ajmg.a.62573. Epub 2021 Nov 19. Am J Med Genet A. 2022. PMID: 34797034 No abstract available.
A Simple Screening Test for Cystic Fibrosis?
Davies G, Aurora P. Davies G, et al. Among authors: aurora p. Indian Pediatr. 2019 Feb 15;56(2):105-106. Indian Pediatr. 2019. PMID: 30819986 Free article. No abstract available.
Efficacy and safety of elexacaftor plus tezacaftor plus ivacaftor versus tezacaftor plus ivacaftor in people with cystic fibrosis homozygous for F508del-CFTR: a 24-week, multicentre, randomised, double-blind, active-controlled, phase 3b trial.
Sutharsan S, McKone EF, Downey DG, Duckers J, MacGregor G, Tullis E, Van Braeckel E, Wainwright CE, Watson D, Ahluwalia N, Bruinsma BG, Harris C, Lam AP, Lou Y, Moskowitz SM, Tian S, Yuan J, Waltz D, Mall MA; VX18-445-109 study group. Sutharsan S, et al. Lancet Respir Med. 2022 Mar;10(3):267-277. doi: 10.1016/S2213-2600(21)00454-9. Epub 2021 Dec 20. Lancet Respir Med. 2022. PMID: 34942085 Clinical Trial.
Paediatrics in Amsterdam.
Eber E, Aurora P, Lødrup Carlsen KC, Lindblad A, Dankert-Roelse JE, Ross-Russell RI, Turner SW, Midulla F, Hedlin G. Eber E, et al. Among authors: aurora p. Eur Respir J. 2012 Jul;40(1):215-26. doi: 10.1183/09031936.00226811. Epub 2012 Feb 23. Eur Respir J. 2012. PMID: 22362855 Free article. Review.
Authors' Reply.
Hebestreit H, Arets HG, Aurora P, Boas S, Cerny F, Hulzebos EH, Karila C, Lands LC, Lowman JD, Swisher A, Urquhart DS; Cystic Fibrosis Exercise Working Group. Hebestreit H, et al. Among authors: aurora p. Respiration. 2016;92(1):63-4. doi: 10.1159/000447654. Epub 2016 Jul 1. Respiration. 2016. PMID: 27376551 Free PMC article. No abstract available.
Germline selection shapes human mitochondrial DNA diversity.
Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot; Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF. Wei W, et al. Science. 2019 May 24;364(6442):eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23. Science. 2019. PMID: 31123110 Free article.
170 results