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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1965 1
1967 1
1998 1
2005 1
2007 2
2008 2
2009 2
2010 3
2011 1
2012 3
2013 3
2014 6
2015 8
2016 6
2017 7
2018 4
2019 5
2020 8
2021 7
2022 1
2023 8
2024 1

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Page 1
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: broomfield a. 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.
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Kishnani PS, Kronn D, Brassier A, Broomfield A, Davison J, Hahn SH, Kumada S, Labarthe F, Ohki H, Pichard S, Prakalapakorn SG, Haack KA, Kittner B, Meng X, Sparks S, Wilson C, Zaher A, Chien YH; Mini-COMET Investigators. Kishnani PS, et al. Among authors: broomfield a. Genet Med. 2023 Feb;25(2):100328. doi: 10.1016/j.gim.2022.10.010. Epub 2022 Dec 21. Genet Med. 2023. PMID: 36542086 Free article. Clinical Trial.
Vasopressin Initiation as a Second-Line VasoPressor in Early Septic Shock (VISPSS).
Ragoonanan D, Nickelsen P, Tran N, Allen B, Emborski R, Legare A, Villela A, Hampson L, Busey K, Shomo E, Broomfield A, Hailu K. Ragoonanan D, et al. Among authors: broomfield a. J Intensive Care Med. 2024 Apr;39(4):306-312. doi: 10.1177/08850666231201364. Epub 2023 Sep 16. J Intensive Care Med. 2024. PMID: 37715634
Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma.
Ramaswami U, Mengel E, Berrah A, AlSayed M, Broomfield A, Donald A, Seif El Dein HM, Freisens S, Hwu WL, Peterschmitt MJ, Yoo HW, Abdelwahab M. Ramaswami U, et al. Among authors: broomfield a. Mol Genet Metab. 2021 Aug;133(4):335-344. doi: 10.1016/j.ymgme.2021.06.009. Epub 2021 Jun 25. Mol Genet Metab. 2021. PMID: 34229967 Free article. Review.
Transition to Adult Care in Children on Long-Term Ventilation.
Onofri A, Broomfield A, Tan HL. Onofri A, et al. Among authors: broomfield a. Front Pediatr. 2020 Sep 30;8:548839. doi: 10.3389/fped.2020.548839. eCollection 2020. Front Pediatr. 2020. PMID: 33102405 Free PMC article. Review.
Breast implants: A guide for general practice.
Kaderbhai A, Broomfield A, Cuss A, Shaw K, Deva AK. Kaderbhai A, et al. Among authors: broomfield a. Aust J Gen Pract. 2021 Jul;50(7):484-490. doi: 10.31128/AJGP-01-20-5188. Aust J Gen Pract. 2021. PMID: 34189547 Free article.
65 results