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Results by year

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

Year Number of Results
1895 1
1954 2
1957 1
1959 1
1965 1
1969 1
1970 2
1975 1
1976 2
1977 2
1980 5
1981 2
1982 3
1983 1
1984 4
1985 1
1987 2
1988 2
1989 3
1990 2
1991 1
1992 3
1993 2
1994 2
1995 5
1996 5
1997 1
1998 7
1999 5
2000 2
2001 3
2002 3
2003 3
2005 3
2006 5
2007 3
2008 6
2009 7
2010 11
2011 17
2012 13
2013 9
2014 10
2015 8
2016 5
2017 6
2018 3
2019 4
2020 4
2021 2
2022 3
2023 5
2024 3

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Search Results

189 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. 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.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Among authors: short pj. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Use of the oral beta blocker bisoprolol to reduce the rate of exacerbation in people with chronic obstructive pulmonary disease (COPD): a randomised controlled trial (BICS).
Cotton S, Devereux G, Abbas H, Briggs A, Campbell K, Chaudhuri R, Choudhury G, Dawson D, De Soyza A, Fielding S, Gompertz S, Haughney J, Lang CC, Lee AJ, MacLennan G, MacNee W, McCormack K, McMeekin N, Mills NL, Morice A, Norrie J, Petrie MC, Price D, Short P, Vestbo J, Walker P, Wedzicha J, Wilson A, Lipworth BJ. Cotton S, et al. Among authors: short p. Trials. 2022 Apr 14;23(1):307. doi: 10.1186/s13063-022-06226-8. Trials. 2022. PMID: 35422024 Free PMC article. Clinical Trial.
Onset of effect and impact on health-related quality of life, exacerbation rate, lung function, and nasal polyposis symptoms for patients with severe eosinophilic asthma treated with benralizumab (ANDHI): a randomised, controlled, phase 3b trial.
Harrison TW, Chanez P, Menzella F, Canonica GW, Louis R, Cosio BG, Lugogo NL, Mohan A, Burden A, McDermott L, Garcia Gil E, Zangrilli JG; ANDHI study investigators. Harrison TW, et al. Lancet Respir Med. 2021 Mar;9(3):260-274. doi: 10.1016/S2213-2600(20)30414-8. Epub 2020 Dec 22. Lancet Respir Med. 2021. PMID: 33357499 Clinical Trial.
Working at arthritis.
Short P, Jones AC, Walker D, Kavanaugh A, Moots RJ. Short P, et al. Rheumatology (Oxford). 2012 Feb;51(2):201-3. doi: 10.1093/rheumatology/ker415. Epub 2011 Dec 16. Rheumatology (Oxford). 2012. PMID: 22179726 No abstract available.
Severe Asthma Standard-of-Care Background Medication Reduction With Benralizumab: ANDHI in Practice Substudy.
Louis R, Harrison TW, Chanez P, Menzella F, Philteos G, Cosio BG, Lugogo NL, de Luiz G, Burden A, Adlington T, Keeling N, Kwiatek J, Garcia Gil E; ANDHI Study Investigators. Louis R, et al. J Allergy Clin Immunol Pract. 2023 Jun;11(6):1759-1770.e7. doi: 10.1016/j.jaip.2023.03.009. Epub 2023 Mar 21. J Allergy Clin Immunol Pract. 2023. PMID: 36948488 Free article.
Contribution of retrotransposition to developmental disorders.
Gardner EJ, Prigmore E, Gallone G, Danecek P, Samocha KE, Handsaker J, Gerety SS, Ironfield H, Short PJ, Sifrim A, Singh T, Chandler KE, Clement E, Lachlan KL, Prescott K, Rosser E, FitzPatrick DR, Firth HV, Hurles ME. Gardner EJ, et al. Among authors: short pj. Nat Commun. 2019 Oct 11;10(1):4630. doi: 10.1038/s41467-019-12520-y. Nat Commun. 2019. PMID: 31604926 Free PMC article.
Genetic and chemotherapeutic influences on germline hypermutation.
Kaplanis J, Ide B, Sanghvi R, Neville M, Danecek P, Coorens T, Prigmore E, Short P, Gallone G, McRae J; Genomics England Research Consortium; Carmichael J, Barnicoat A, Firth H, O'Brien P, Rahbari R, Hurles M. Kaplanis J, et al. Among authors: short p. Nature. 2022 May;605(7910):503-508. doi: 10.1038/s41586-022-04712-2. Epub 2022 May 11. Nature. 2022. PMID: 35545669 Free PMC article.
Efficacy, safety, and immunogenicity of a booster regimen of Ad26.COV2.S vaccine against COVID-19 (ENSEMBLE2): results of a randomised, double-blind, placebo-controlled, phase 3 trial.
Hardt K, Vandebosch A, Sadoff J, Le Gars M, Truyers C, Lowson D, Van Dromme I, Vingerhoets J, Kamphuis T, Scheper G, Ruiz-Guiñazú J, Faust SN, Spinner CD, Schuitemaker H, Van Hoof J, Douoguih M, Struyf F; ENSEMBLE2 study group. Hardt K, et al. Lancet Infect Dis. 2022 Dec;22(12):1703-1715. doi: 10.1016/S1473-3099(22)00506-0. Epub 2022 Sep 13. Lancet Infect Dis. 2022. PMID: 36113538 Free PMC article. Clinical Trial.
189 results