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Results by year

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

Year Number of Results
1954 1
1962 1
1963 1
1964 1
1967 1
1968 2
1969 1
1971 1
1972 1
1973 5
1974 2
1975 5
1976 6
1977 2
1978 4
1979 5
1980 3
1981 2
1982 2
1983 1
1984 2
1985 3
1986 3
1987 9
1988 2
1989 8
1990 3
1991 6
1993 1
1994 4
1995 3
1996 5
1997 4
1998 2
1999 3
2000 3
2001 2
2002 3
2003 2
2004 6
2005 4
2006 8
2007 7
2008 8
2009 15
2010 5
2011 18
2012 23
2013 34
2014 23
2015 31
2016 32
2017 28
2018 25
2019 20
2020 15
2021 13
2022 8
2023 5
2024 0

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Article type

Publication date

Search Results

396 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. 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.
Psoriasis and Genetics.
Dand N, Mahil SK, Capon F, Smith CH, Simpson MA, Barker JN. Dand N, et al. Among authors: simpson ma. Acta Derm Venereol. 2020 Jan 30;100(3):adv00030. doi: 10.2340/00015555-3384. Acta Derm Venereol. 2020. PMID: 31971603 Free PMC article. Review.
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 E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: simpson ma. 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.
Genome-wide association meta-analysis identifies 29 new acne susceptibility loci.
Mitchell BL, Saklatvala JR, Dand N, Hagenbeek FA, Li X, Min JL, Thomas L, Bartels M, Jan Hottenga J, Lupton MK, Boomsma DI, Dong X, Hveem K, Løset M, Martin NG, Barker JN, Han J, Smith CH, Rentería ME, Simpson MA. Mitchell BL, et al. Among authors: simpson ma. Nat Commun. 2022 Feb 7;13(1):702. doi: 10.1038/s41467-022-28252-5. Nat Commun. 2022. PMID: 35132056 Free PMC article.
Endovascular therapy for ischemic stroke with perfusion-imaging selection.
Campbell BC, Mitchell PJ, Kleinig TJ, Dewey HM, Churilov L, Yassi N, Yan B, Dowling RJ, Parsons MW, Oxley TJ, Wu TY, Brooks M, Simpson MA, Miteff F, Levi CR, Krause M, Harrington TJ, Faulder KC, Steinfort BS, Priglinger M, Ang T, Scroop R, Barber PA, McGuinness B, Wijeratne T, Phan TG, Chong W, Chandra RV, Bladin CF, Badve M, Rice H, de Villiers L, Ma H, Desmond PM, Donnan GA, Davis SM; EXTEND-IA Investigators. Campbell BC, et al. Among authors: simpson ma. N Engl J Med. 2015 Mar 12;372(11):1009-18. doi: 10.1056/NEJMoa1414792. Epub 2015 Feb 11. N Engl J Med. 2015. PMID: 25671797 Free article. Clinical Trial.
Assessment of Minimal Residual Disease in Standard-Risk AML.
Ivey A, Hills RK, Simpson MA, Jovanovic JV, Gilkes A, Grech A, Patel Y, Bhudia N, Farah H, Mason J, Wall K, Akiki S, Griffiths M, Solomon E, McCaughan F, Linch DC, Gale RE, Vyas P, Freeman SD, Russell N, Burnett AK, Grimwade D; UK National Cancer Research Institute AML Working Group. Ivey A, et al. Among authors: simpson ma. N Engl J Med. 2016 Feb 4;374(5):422-33. doi: 10.1056/NEJMoa1507471. Epub 2016 Jan 20. N Engl J Med. 2016. PMID: 26789727 Free article. Clinical Trial.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
The novel SALT-M score predicts 1-year post-transplant mortality in patients with severe acute-on-chronic liver failure.
Hernaez R, Karvellas CJ, Liu Y, Sacleux SC, Khemichian S, Stein LL, Shetty K, Lindenmeyer CC, Boike JR, Simonetto DA, Rahimi RS, Jalal PK, Izzy M, Kriss MS, Im GY, Lin MV, Jou JH, Fortune BE, Cholankeril G, Kuo A, Mahmud N, Kanwal F, Saliba F, Sundaram V, Artzner T, Jalan R; Multi-Organ Dysfunction and Evaluation for Liver Transplantation (MODEL) Consortium. Hernaez R, et al. J Hepatol. 2023 Sep;79(3):717-727. doi: 10.1016/j.jhep.2023.05.028. Epub 2023 Jun 12. J Hepatol. 2023. PMID: 37315809
PADI3, hair disorders and genomic investigation.
McGrath JA, Ohyama M, Simpson MA. McGrath JA, et al. Among authors: simpson ma. Br J Dermatol. 2019 Dec;181(6):1115-1116. doi: 10.1111/bjd.18463. Br J Dermatol. 2019. PMID: 31797372 No abstract available.
Hyaluronan signaling and turnover. Preface.
Simpson MA, Heldin P. Simpson MA, et al. Adv Cancer Res. 2014;123:xv-xvi. doi: 10.1016/B978-0-12-800092-2.09986-X. Adv Cancer Res. 2014. PMID: 25081537 No abstract available.
396 results