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Year Number of Results
2005 1
2009 1
2011 1
2016 3
2017 2
2018 2
2019 2
2020 6
2021 6
2022 5
2023 8
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2025 0

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38 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. Among authors: roy nba. 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.
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 E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: roy nba. 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.
Direct correction of haemoglobin E β-thalassaemia using base editors.
Badat M, Ejaz A, Hua P, Rice S, Zhang W, Hentges LD, Fisher CA, Denny N, Schwessinger R, Yasara N, Roy NBA, Issa F, Roy A, Telfer P, Hughes J, Mettananda S, Higgs DR, Davies JOJ. Badat M, et al. Among authors: roy nba. Nat Commun. 2023 Apr 19;14(1):2238. doi: 10.1038/s41467-023-37604-8. Nat Commun. 2023. PMID: 37076455 Free PMC article.
RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.
Martell DJ, Merens HE, Caulier A, Fiorini C, Ulirsch JC, Ietswaart R, Choquet K, Graziadei G, Brancaleoni V, Cappellini MD, Scott C, Roberts N, Proven M, Roy NBA, Babbs C, Higgs DR, Sankaran VG, Churchman LS. Martell DJ, et al. Among authors: roy nba. Dev Cell. 2023 Oct 23;58(20):2112-2127.e4. doi: 10.1016/j.devcel.2023.07.018. Epub 2023 Aug 15. Dev Cell. 2023. PMID: 37586368 Free PMC article.
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Gök V, Leblebisatan G, Gürlek Gökçebay D, Güler S, Doğan ME, Tuğ Bozdoğan S, Koca Yozgat A, Özcan A, Pekpak Şahinoğlu E, Tokgöz H, Çil M, Özemri Sağ Ş, Yilmaz E, Şaşmaz Hİ, Evim MS, Akbayram S, Karadoğan M, Mutlu FT, Boğa İ, Yeter Doğan B, Yarali N, Çalişkan Ü, Bişgin A, Temel ŞG, Proven M, Gibson K, Demir BŞ, Saraçoğlu H, Eken A, Karakükçü Ç, Karakükçü M, Güneş AM, Özbek NY, Kilinç Y, Patiroğlu T, Özdemir MA, Roy NBA, Ünal E. Gök V, et al. Among authors: roy nba. Br J Haematol. 2024 Jul;205(1):236-242. doi: 10.1111/bjh.19575. Epub 2024 May 29. Br J Haematol. 2024. PMID: 38811201
Supportive care in the management of patients with acute myeloid leukaemia: where are the research needs?
Loke J, Lowe DM, Miller LJ, Morton S, Roy NBA, Sekhar M, Stanworth SJ; National Cancer Research Institute Acute Myeloid Leukaemia Working Party on Supportive Care/Transfusion. Loke J, et al. Among authors: roy nba. Br J Haematol. 2020 Aug;190(3):311-313. doi: 10.1111/bjh.16708. Epub 2020 May 7. Br J Haematol. 2020. PMID: 32378733 Free article. Review. No abstract available.
38 results