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

Year Number of Results
1912 1
1923 1
1924 1
1928 2
1929 2
1930 2
1932 2
1933 2
1935 2
1936 1
1937 2
1938 1
1940 1
1943 1
1945 1
1946 12
1947 8
1948 9
1949 9
1950 7
1951 15
1952 8
1953 9
1954 12
1955 13
1956 9
1957 9
1958 17
1959 12
1960 14
1961 9
1962 20
1963 26
1964 16
1965 34
1966 27
1967 30
1968 37
1969 40
1970 43
1971 30
1972 29
1973 44
1974 42
1975 27
1976 58
1977 48
1978 65
1979 56
1980 68
1981 67
1982 68
1983 70
1984 73
1985 74
1986 84
1987 84
1988 102
1989 120
1990 111
1991 145
1992 147
1993 139
1994 159
1995 165
1996 163
1997 170
1998 166
1999 180
2000 193
2001 170
2002 217
2003 215
2004 253
2005 243
2006 304
2007 345
2008 374
2009 363
2010 437
2011 483
2012 536
2013 534
2014 607
2015 637
2016 590
2017 621
2018 628
2019 684
2020 810
2021 667
Text availability
Article attribute
Article type
Publication date

Search Results

12,050 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: smith kgc. 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.
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: smith kgc. 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.
Neutralising antibodies in Spike mediated SARS-CoV-2 adaptation.
Kemp SA, Collier DA, Datir R, Ferreira I, Gayed S, Jahun A, Hosmillo M, Rees-Spear C, Mlcochova P, Lumb IU, Roberts DJ, Chandra A, Temperton N; CITIID-NIHR BioResource COVID-19 Collaboration; COVID-19 Genomics UK (COG-UK) Consortium, Sharrocks K, Blane E, Briggs J, van GM, Smith K, Bradley JR, Smith C, Doffinger R, Ceron-Gutierrez L, Barcenas-Morales G, Pollock DD, Goldstein RA, Smielewska A, Skittrall JP, Gouliouris T, Goodfellow IG, Gkrania-Klotsas E, Illingworth C, McCoy LE, Gupta RK. Kemp SA, et al. Among authors: smith k. medRxiv. 2020 Dec 29:2020.12.05.20241927. doi: 10.1101/2020.12.05.20241927. Preprint. medRxiv. 2020. PMID: 33398302 Free PMC article. Updated.
Air Versus Oxygen in ST-Segment-Elevation Myocardial Infarction.
Stub D, Smith K, Bernard S, Nehme Z, Stephenson M, Bray JE, Cameron P, Barger B, Ellims AH, Taylor AJ, Meredith IT, Kaye DM; AVOID Investigators. Stub D, et al. Among authors: smith k. Circulation. 2015 Jun 16;131(24):2143-50. doi: 10.1161/CIRCULATIONAHA.114.014494. Epub 2015 May 22. Circulation. 2015. PMID: 26002889 Free article. Clinical Trial.
Dietary Patterns, Carbohydrates, and Age-Related Eye Diseases.
Francisco SG, Smith KM, Aragonès G, Whitcomb EA, Weinberg J, Wang X, Bejarano E, Taylor A, Rowan S. Francisco SG, et al. Among authors: smith km. Nutrients. 2020 Sep 18;12(9):2862. doi: 10.3390/nu12092862. Nutrients. 2020. PMID: 32962100 Free PMC article. Review.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium, Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Among authors: smith ks. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
Integrated Morphoelectric and Transcriptomic Classification of Cortical GABAergic Cells.
Gouwens NW, Sorensen SA, Baftizadeh F, Budzillo A, Lee BR, Jarsky T, Alfiler L, Baker K, Barkan E, Berry K, Bertagnolli D, Bickley K, Bomben J, Braun T, Brouner K, Casper T, Crichton K, Daigle TL, Dalley R, de Frates RA, Dee N, Desta T, Lee SD, Dotson N, Egdorf T, Ellingwood L, Enstrom R, Esposito L, Farrell C, Feng D, Fong O, Gala R, Gamlin C, Gary A, Glandon A, Goldy J, Gorham M, Graybuck L, Gu H, Hadley K, Hawrylycz MJ, Henry AM, Hill D, Hupp M, Kebede S, Kim TK, Kim L, Kroll M, Lee C, Link KE, Mallory M, Mann R, Maxwell M, McGraw M, McMillen D, Mukora A, Ng L, Ng L, Ngo K, Nicovich PR, Oldre A, Park D, Peng H, Penn O, Pham T, Pom A, Popović Z, Potekhina L, Rajanbabu R, Ransford S, Reid D, Rimorin C, Robertson M, Ronellenfitch K, Ruiz A, Sandman D, Smith K, Sulc J, Sunkin SM, Szafer A, Tieu M, Torkelson A, Trinh J, Tung H, Wakeman W, Ward K, Williams G, Zhou Z, Ting JT, Arkhipov A, Sümbül U, Lein ES, Koch C, Yao Z, Tasic B, Berg J, Murphy GJ, Zeng H. Gouwens NW, et al. Among authors: smith k. Cell. 2020 Nov 12;183(4):935-953.e19. doi: 10.1016/j.cell.2020.09.057. Cell. 2020. PMID: 33186530
Neoadjuvant nivolumab plus ipilimumab in resectable non-small cell lung cancer.
Reuss JE, Anagnostou V, Cottrell TR, Smith KN, Verde F, Zahurak M, Lanis M, Murray JC, Chan HY, McCarthy C, Wang D, White JR, Yang S, Battafarano R, Broderick S, Bush E, Brock M, Ha J, Jones D, Merghoub T, Taube J, Velculescu VE, Rosner G, Illei P, Pardoll DM, Topalian S, Naidoo J, Levy B, Hellmann M, Brahmer JR, Chaft JE, Forde PM. Reuss JE, et al. Among authors: smith kn. J Immunother Cancer. 2020 Sep;8(2):e001282. doi: 10.1136/jitc-2020-001282. J Immunother Cancer. 2020. PMID: 32929052 Free PMC article.
Reply.
Meadley B, Caldwell J, Perraton L, Bonham M, Powell Wolkow A, Smith K, Williams B, Bowles KA. Meadley B, et al. Among authors: smith k. Occup Med (Lond). 2020 Dec 12;70(8):610. doi: 10.1093/occmed/kqaa135. Occup Med (Lond). 2020. PMID: 33313906 No abstract available.
Combined Point-of-Care Nucleic Acid and Antibody Testing for SARS-CoV-2 following Emergence of D614G Spike Variant.
Mlcochova P, Collier D, Ritchie A, Assennato SM, Hosmillo M, Goel N, Meng B, Chatterjee K, Mendoza V, Temperton N, Kiss L, James LC, Ciazynska KA, Xiong X, Briggs JAG, Nathan JA, Mescia F, Bergamaschi L, Zhang H, Barmpounakis P, Demeris N, Skells R, Lyons PA, Bradley J, Baker S, Allain JP, Smith KGC, Bousfield R, Wilson M, Sparkes D, Amoroso G, Gkrania-Klotsas E, Hardwick S, Boyle A, Goodfellow I, Gupta RK; Cambridge Institute of Therapeutic Immunology and Infectious Disease-National Institute of Health Research (CITIID-NIHR) COVID BioResource Collaboration. Mlcochova P, et al. Among authors: smith kgc. Cell Rep Med. 2020 Sep 22;1(6):100099. doi: 10.1016/j.xcrm.2020.100099. Epub 2020 Sep 1. Cell Rep Med. 2020. PMID: 32905045 Free PMC article.
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