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

Year Number of Results
1928 2
1930 1
1947 1
1948 3
1949 2
1951 2
1959 1
1962 1
1963 2
1964 2
1965 1
1966 1
1967 4
1968 6
1969 4
1970 2
1972 1
1973 2
1974 2
1975 1
1976 1
1977 1
1978 6
1979 5
1980 7
1981 4
1982 3
1983 5
1984 2
1985 3
1986 3
1987 4
1988 6
1989 7
1990 7
1991 16
1992 5
1993 1
1994 12
1995 7
1996 10
1997 9
1998 8
1999 13
2000 18
2001 15
2002 27
2003 17
2004 11
2005 10
2006 10
2007 25
2008 22
2009 21
2010 25
2011 36
2012 32
2013 42
2014 47
2015 32
2016 46
2017 50
2018 40
2019 44
2020 30
2021 35
2022 27
2023 36
2024 28
2025 12

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847 results

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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: smith kr. 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.
Rare variant associations with plasma protein levels in the UK Biobank.
Dhindsa RS, Burren OS, Sun BB, Prins BP, Matelska D, Wheeler E, Mitchell J, Oerton E, Hristova VA, Smith KR, Carss K, Wasilewski S, Harper AR, Paul DS, Fabre MA, Runz H, Viollet C, Challis B, Platt A; AstraZeneca Genomics Initiative; Vitsios D, Ashley EA, Whelan CD, Pangalos MN, Wang Q, Petrovski S. Dhindsa RS, et al. Among authors: smith kr. Nature. 2023 Oct;622(7982):339-347. doi: 10.1038/s41586-023-06547-x. Epub 2023 Oct 4. Nature. 2023. PMID: 37794183 Free PMC article.
Rare variant contribution to human disease in 281,104 UK Biobank exomes.
Wang Q, Dhindsa RS, Carss K, Harper AR, Nag A, Tachmazidou I, Vitsios D, Deevi SVV, Mackay A, Muthas D, Hühn M, Monkley S, Olsson H; AstraZeneca Genomics Initiative; Wasilewski S, Smith KR, March R, Platt A, Haefliger C, Petrovski S. Wang Q, et al. Among authors: smith kr. Nature. 2021 Sep;597(7877):527-532. doi: 10.1038/s41586-021-03855-y. Epub 2021 Aug 10. Nature. 2021. PMID: 34375979 Free PMC article.
Disease prediction with multi-omics and biomarkers empowers case-control genetic discoveries in the UK Biobank.
Garg M, Karpinski M, Matelska D, Middleton L, Burren OS, Hu F, Wheeler E, Smith KR, Fabre MA, Mitchell J, O'Neill A, Ashley EA, Harper AR, Wang Q, Dhindsa RS, Petrovski S, Vitsios D. Garg M, et al. Among authors: smith kr. Nat Genet. 2024 Sep;56(9):1821-1831. doi: 10.1038/s41588-024-01898-1. Epub 2024 Sep 11. Nat Genet. 2024. PMID: 39261665 Free PMC article.
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.
Burren OS, Dhindsa RS, Deevi SVV, Wen S, Nag A, Mitchell J, Hu F, Loesch DP, Smith KR, Razdan N, Olsson H, Platt A, Vitsios D, Wu Q; AstraZeneca Genomics Initiative; Codd V, Nelson CP, Samani NJ, March RE, Wasilewski S, Carss K, Fabre M, Wang Q, Pangalos MN, Petrovski S. Burren OS, et al. Among authors: smith kr. Nat Genet. 2024 Sep;56(9):1832-1840. doi: 10.1038/s41588-024-01884-7. Epub 2024 Aug 27. Nat Genet. 2024. PMID: 39192095 Free PMC article.
High-dose saccharin supplementation does not induce gut microbiota changes or glucose intolerance in healthy humans and mice.
Serrano J, Smith KR, Crouch AL, Sharma V, Yi F, Vargova V, LaMoia TE, Dupont LM, Serna V, Tang F, Gomes-Dias L, Blakeslee JJ, Hatzakis E, Peterson SN, Anderson M, Pratley RE, Kyriazis GA. Serrano J, et al. Among authors: smith kr. Microbiome. 2021 Jan 12;9(1):11. doi: 10.1186/s40168-020-00976-w. Microbiome. 2021. PMID: 33431052 Free PMC article. Clinical Trial.
Against homoeopathy.
Smith KR. Smith KR. Bull World Health Organ. 1999;77(11):948. Bull World Health Organ. 1999. PMID: 10612892 Free PMC article. No abstract available.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Among authors: smith kr. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.
Zhao Y, Chukanova M, Kentistou KA, Fairhurst-Hunter Z, Siegert AM, Jia RY, Dowsett GKC, Gardner EJ, Lawler K, Day FR, Kaisinger LR, Tung YL, Lam BYH, Chen HC, Wang Q, Berumen-Campos J, Kuri-Morales P, Tapia-Conyer R, Alegre-Diaz J, Barroso I, Emberson J, Torres JM, Collins R, Saleheen D, Smith KR, Paul DS, Merkle F, Farooqi IS, Wareham NJ, Petrovski S, O'Rahilly S, Ong KK, Yeo GSH, Perry JRB. Zhao Y, et al. Among authors: smith kr. Nat Genet. 2024 Apr;56(4):579-584. doi: 10.1038/s41588-024-01694-x. Epub 2024 Apr 4. Nat Genet. 2024. PMID: 38575728 Free PMC article.
Why particles?
Smith KR, Jantunen M. Smith KR, et al. Chemosphere. 2002 Dec;49(9):867-71. doi: 10.1016/s0045-6535(02)00235-7. Chemosphere. 2002. PMID: 12492155 No abstract available.
847 results