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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: fuller g. 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.
Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.
Mariathasan S, Andrews KA, Thompson E, Challis BG, Wilcox S, Pierce H, Hale J, Spiden S, Fuller G, Simpson HL, Fish B, Jani P, Seetho I, Armstrong R, Izatt L, Joshi M, Velusamy A, Park SM, Casey RT. Mariathasan S, et al. Among authors: fuller g. Clin Endocrinol (Oxf). 2020 Oct;93(4):409-418. doi: 10.1111/cen.14254. Epub 2020 Jun 12. Clin Endocrinol (Oxf). 2020. PMID: 32430905
Syringe reuse among people who inject drugs in rural Appalachian Kentucky.
Jahangir T, Fuller GK, Livingston MD, Freeman E, Fanucchi LC, Fallin-Bennett A, Cooper HLF, Young AM. Jahangir T, et al. Among authors: fuller gk. Int J Drug Policy. 2024 May 3;128:104422. doi: 10.1016/j.drugpo.2024.104422. Online ahead of print. Int J Drug Policy. 2024. PMID: 38703621
Response of treatment-naive brain metastases to stereotactic radiosurgery.
Ene CI, Abi Faraj C, Beckham TH, Weinberg JS, Andersen CR, Haider AS, Rao G, Ferguson SD, Alvarez-Brenkenridge CA, Kim BYS, Heimberger AB, McCutcheon IE, Prabhu SS, Wang CM, Ghia AJ, McGovern SL, Chung C, McAleer MF, Tom MC, Perni S, Swanson TA, Yeboa DN, Briere TM, Huse JT, Fuller GN, Lang FF, Li J, Suki D, Sawaya RE. Ene CI, et al. Among authors: fuller gn. Nat Commun. 2024 May 2;15(1):3728. doi: 10.1038/s41467-024-47998-8. Nat Commun. 2024. PMID: 38697991 Free PMC article.
1,277 results