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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 E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. 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.
Fecal Dipeptidyl Peptidase-4: An Emergent Biomarker in Inflammatory Bowel Disease.
Pinto-Lopes P, Melo F, Afonso J, Pinto-Lopes R, Rocha C, Melo D, Macedo G, Dias CC, Carneiro F, Magro F; Portuguese IBD Study Group (GEDII). Pinto-Lopes P, et al. Clin Transl Gastroenterol. 2021 Mar 10;12(3):e00320. doi: 10.14309/ctg.0000000000000320. Clin Transl Gastroenterol. 2021. PMID: 33704099 Free PMC article.
Surrogate markers of long-term outcome in primary total hip arthroplasty: A systematic review.
Malak TT, Broomfield JA, Palmer AJ, Hopewell S, Carr A, Brown C, Prieto-Alhambra D, Glyn-Jones S. Malak TT, et al. Bone Joint Res. 2016 Jun;5(6):206-14. doi: 10.1302/2046-3758.56.2000568. Bone Joint Res. 2016. PMID: 27267795 Free PMC article.
Further studies are needed to validate the use of PROMs for post-market surveillance.Cite this article: T. T. Malak, J. A. J. Broomfield, A. J. R. Palmer, S. Hopewell, A. Carr, C. ...
Further studies are needed to validate the use of PROMs for post-market surveillance.Cite this article: T. T. Malak, J. A. J. …