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Results by year

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

Year Number of Results
1857 1
1901 1
1902 11
1903 13
1904 7
1906 1
1912 1
1923 1
1927 1
1933 1
1938 1
1939 2
1940 2
1945 2
1948 1
1949 1
1951 2
1952 1
1953 1
1954 4
1955 7
1956 6
1957 6
1958 5
1959 8
1960 3
1961 4
1962 4
1963 4
1964 2
1965 5
1966 4
1967 9
1968 2
1969 3
1970 10
1971 4
1972 8
1973 9
1974 10
1975 21
1976 14
1977 9
1978 25
1979 19
1980 14
1981 6
1982 12
1983 15
1984 10
1985 9
1986 9
1987 7
1988 12
1989 19
1990 22
1991 22
1992 12
1993 18
1994 13
1995 19
1996 9
1997 21
1998 16
1999 24
2000 16
2001 19
2002 36
2003 30
2004 52
2005 31
2006 49
2007 52
2008 42
2009 46
2010 57
2011 69
2012 53
2013 57
2014 72
2015 71
2016 78
2017 81
2018 88
2019 73
2020 101
2021 86
2022 74
2023 85
2024 24

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Publication date

Search Results

1,791 results

Results by year

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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. Among authors: stephens j. 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.
Cranberries for preventing urinary tract infections.
Williams G, Hahn D, Stephens JH, Craig JC, Hodson EM. Williams G, et al. Among authors: stephens jh. Cochrane Database Syst Rev. 2023 Apr 17;4(4):CD001321. doi: 10.1002/14651858.CD001321.pub6. Cochrane Database Syst Rev. 2023. PMID: 37068952 Updated. Review.
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, Symington E, Thomas W, Thys C, Tolios A, Penkett CJ; NIHR BioResource; Ouwehand WH, Abbs S, Laffan MA, Turro E, Simeoni I, Mumford AD, Henskens YMC, Pabinger I, Gomez K, Freson K. Downes K, et al. Among authors: stephens j. Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192. Blood. 2019. PMID: 31064749 Free PMC article.
l-Citrulline Supplementation: Impact on Cardiometabolic Health.
Allerton TD, Proctor DN, Stephens JM, Dugas TR, Spielmann G, Irving BA. Allerton TD, et al. Among authors: stephens jm. Nutrients. 2018 Jul 19;10(7):921. doi: 10.3390/nu10070921. Nutrients. 2018. PMID: 30029482 Free PMC article. Review.
Transcriptional Regulation of Adipogenesis.
Mota de Sá P, Richard AJ, Hang H, Stephens JM. Mota de Sá P, et al. Among authors: stephens jm. Compr Physiol. 2017 Mar 16;7(2):635-674. doi: 10.1002/cphy.c160022. Compr Physiol. 2017. PMID: 28333384 Review.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Among authors: stephens j. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Among authors: stephens j. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Asynchronous Telehealth.
Stephens J, Greenberg GM. Stephens J, et al. Prim Care. 2022 Dec;49(4):531-541. doi: 10.1016/j.pop.2022.05.004. Epub 2022 Oct 20. Prim Care. 2022. PMID: 36357059 Review.
1,791 results