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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 4

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190 results

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Page 1
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.
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.
Bisoprolol in Patients With Chronic Obstructive Pulmonary Disease at High Risk of Exacerbation: The BICS Randomized Clinical Trial.
Devereux G, Cotton S, Nath M, McMeekin N, Campbell K, Chaudhuri R, Choudhury G, De Soyza A, Fielding S, Gompertz S, Haughney J, Lee AJ, MacLennan G, Morice A, Norrie J, Price D, Short P, Vestbo J, Walker P, Wedzicha J, Wilson A, Wu O, Lipworth BJ. Devereux G, et al. Among authors: short p. JAMA. 2024 Aug 13;332(6):462-470. doi: 10.1001/jama.2024.8771. JAMA. 2024. PMID: 38762800 Free PMC article. Clinical Trial.
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.
Connecting for health.
Thick M, Davies M, Eccles S, Braunold G, Winfield M, Pujara M, Short P. Thick M, et al. Among authors: short p. Br J Gen Pract. 2008 Mar;58(548):204-5. doi: 10.3399/bjgp08X277384. Br J Gen Pract. 2008. PMID: 18318975 Free PMC article. No abstract available.
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kmochová T, Kidd KO, Orr A, Hnízda A, Hartmannová H, Hodaňová K, Vyleťal P, Naušová K, Brinsa V, Trešlová H, Sovová J, Barešová V, Svojšová K, Vrbacká A, Stránecký V, Robins VC, Taylor A, Martin L, Rivas-Chavez A, Payne R, Bleyer HA, Williams A, Rennke HG, Weins A, Short PJ, Agrawal V, Storsley LJ, Waikar SS, McPhail ED, Dasari S, Leung N, Hewlett T, Yorke J, Gaston D, Geldenhuys L, Samuels M, Levine AP, West M, Hůlková H, Pompach P, Novák P, Weinberg RB, Bedard K, Živná M, Sikora J, Bleyer AJ Sr, Kmoch S. Kmochová T, et al. Among authors: short pj. Kidney Int. 2024 Apr;105(4):799-811. doi: 10.1016/j.kint.2023.11.021. Epub 2023 Dec 12. Kidney Int. 2024. PMID: 38096951
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.
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.
190 results