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

Year Number of Results
1890 1
1957 2
1963 4
1964 2
1966 1
1967 1
1968 2
1971 1
1985 1
1986 1
1992 1
1993 1
1994 4
1996 2
1997 4
1998 3
1999 3
2000 1
2001 3
2002 4
2003 4
2004 3
2005 3
2006 2
2007 5
2008 14
2009 9
2010 10
2011 8
2012 11
2013 10
2014 12
2015 11
2016 12
2017 21
2018 9
2019 15
2020 21
2021 24
2022 21
2023 19
2024 8

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264 results

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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.
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: quinton r. 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.
Whole-genome doubling confers unique genetic vulnerabilities on tumour cells.
Quinton RJ, DiDomizio A, Vittoria MA, Kotýnková K, Ticas CJ, Patel S, Koga Y, Vakhshoorzadeh J, Hermance N, Kuroda TS, Parulekar N, Taylor AM, Manning AL, Campbell JD, Ganem NJ. Quinton RJ, et al. Nature. 2021 Feb;590(7846):492-497. doi: 10.1038/s41586-020-03133-3. Epub 2021 Jan 27. Nature. 2021. PMID: 33505027 Free PMC article.
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.
Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J. Boehm U, et al. Among authors: quinton r. Nat Rev Endocrinol. 2015 Sep;11(9):547-64. doi: 10.1038/nrendo.2015.112. Epub 2015 Jul 21. Nat Rev Endocrinol. 2015. PMID: 26194704 Review.
Response.
Griffin G, Hewison M, Hopkin J, Kenny RA, Quinton R, Rhodes J, Subramanian S, Thickett D. Griffin G, et al. Among authors: quinton r. Clin Med (Lond). 2021 Jan;21(1):e120. doi: 10.7861/clinmed.Let.21.1.8. Clin Med (Lond). 2021. PMID: 33479101 Free PMC article. No abstract available.
To the Editor.
Swee DS, Quinton R. Swee DS, et al. Among authors: quinton r. Menopause. 2020 Nov 16;28(2):225-226. doi: 10.1097/GME.0000000000001689. Menopause. 2020. PMID: 33201028 No abstract available.
Whole-genome doubling in tissues and tumors.
Vittoria MA, Quinton RJ, Ganem NJ. Vittoria MA, et al. Among authors: quinton rj. Trends Genet. 2023 Dec;39(12):954-967. doi: 10.1016/j.tig.2023.08.004. Epub 2023 Sep 14. Trends Genet. 2023. PMID: 37714734 Review.
Editorial: New Aspects in Hypogonadism.
Dwyer AA, Quinton R. Dwyer AA, et al. Among authors: quinton r. Front Endocrinol (Lausanne). 2020 Jun 30;11:426. doi: 10.3389/fendo.2020.00426. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32695070 Free PMC article. No abstract available.
264 results