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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: wei w. 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.
Amyloid-β accumulation in the CNS in human growth hormone recipients in the UK.
Ritchie DL, Adlard P, Peden AH, Lowrie S, Le Grice M, Burns K, Jackson RJ, Yull H, Keogh MJ, Wei W, Chinnery PF, Head MW, Ironside JW. Ritchie DL, et al. Among authors: wei w. Acta Neuropathol. 2017 Aug;134(2):221-240. doi: 10.1007/s00401-017-1703-0. Epub 2017 Mar 27. Acta Neuropathol. 2017. PMID: 28349199 Free PMC article.
Response to Simon et al.
Wei W, Keogh MJ, Ironside JW, Chinnery PF. Wei W, et al. Acta Neuropathol Commun. 2017 Apr 29;5(1):34. doi: 10.1186/s40478-017-0434-8. Acta Neuropathol Commun. 2017. PMID: 28454558 Free PMC article. No abstract available.
Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.
Keogh MJ, Wei W, Aryaman J, Wilson I, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Jones N, Ironside JW, Chinnery PF. Keogh MJ, et al. Among authors: wei w. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):813-816. doi: 10.1136/jnnp-2017-317234. Epub 2018 Jan 13. J Neurol Neurosurg Psychiatry. 2018. PMID: 29332010 Free PMC article.
Frequency and signature of somatic variants in 1461 human brain exomes.
Wei W, Keogh MJ, Aryaman J, Golder Z, Kullar PJ, Wilson I, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Sarraj SA, Morris CM, Ansorge O, Jones NS, Ironside JW, Chinnery PF. Wei W, et al. Genet Med. 2019 Apr;21(4):904-912. doi: 10.1038/s41436-018-0274-3. Epub 2018 Sep 14. Genet Med. 2019. PMID: 30214067 Free PMC article.
High prevalence of focal and multi-focal somatic genetic variants in the human brain.
Keogh MJ, Wei W, Aryaman J, Walker L, van den Ameele J, Coxhead J, Wilson I, Bashton M, Beck J, West J, Chen R, Haudenschild C, Bartha G, Luo S, Morris CM, Jones NS, Attems J, Chinnery PF. Keogh MJ, et al. Among authors: wei w. Nat Commun. 2018 Oct 15;9(1):4257. doi: 10.1038/s41467-018-06331-w. Nat Commun. 2018. PMID: 30323172 Free PMC article.
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.
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