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Results by year

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

Year Number of Results
1869 2
1874 1
1875 2
1876 1
1879 2
1880 3
1885 1
1887 1
1898 2
1941 1
1946 1
1948 1
1949 1
1950 1
1952 2
1956 1
1957 3
1959 4
1960 3
1962 3
1963 1
1964 2
1965 4
1967 1
1968 3
1969 4
1970 2
1971 3
1972 2
1973 2
1974 2
1977 2
1978 3
1979 5
1980 4
1981 7
1982 2
1983 1
1984 2
1985 7
1986 7
1987 5
1988 8
1989 3
1990 7
1991 5
1992 3
1993 6
1994 10
1995 9
1996 5
1997 10
1998 4
1999 12
2000 9
2001 20
2002 13
2003 18
2004 15
2005 12
2006 18
2007 19
2008 17
2009 22
2010 26
2011 30
2012 27
2013 28
2014 29
2015 29
2016 33
2017 21
2018 21
2019 36
2020 32
2021 34
2022 55
2023 14
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Publication date

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698 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 E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: black g. 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.
Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.
Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, Nanda A, Davies A, Wood LJ, Salvetti AP, Fischer MD, Aylward JW, Barnard AR, Jolly JK, Luo E, Lujan BJ, Ong T, Girach A, Black GCM, Gregori NZ, Davis JL, Rosa PR, Lotery AJ, Lam BL, Stanga PE, MacLaren RE. Cehajic-Kapetanovic J, et al. Among authors: black gcm. Nat Med. 2020 Mar;26(3):354-359. doi: 10.1038/s41591-020-0763-1. Epub 2020 Feb 24. Nat Med. 2020. PMID: 32094925 Free PMC article. Clinical Trial.
Genetic testing and diagnosis of inherited retinal diseases.
Lam BL, Leroy BP, Black G, Ong T, Yoon D, Trzupek K. Lam BL, et al. Among authors: black g. Orphanet J Rare Dis. 2021 Dec 14;16(1):514. doi: 10.1186/s13023-021-02145-0. Orphanet J Rare Dis. 2021. PMID: 34906171 Free PMC article. Review.
Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.
Catarino CB, von Livonius B, Priglinger C, Banik R, Matloob S, Tamhankar MA, Castillo L, Friedburg C, Halfpenny CA, Lincoln JA, Traber GL, Acaroglu G, Black GCM, Doncel C, Fraser CL, Jakubaszko J, Landau K, Langenegger SJ, Muñoz-Negrete FJ, Newman NJ, Poulton J, Scoppettuolo E, Subramanian P, Toosy AT, Vidal M, Vincent AL, Votruba M, Zarowski M, Zermansky A, Lob F, Rudolph G, Mikazans O, Silva M, Llòria X, Metz G, Klopstock T. Catarino CB, et al. Among authors: black gcm. J Neuroophthalmol. 2020 Dec;40(4):558-565. doi: 10.1097/WNO.0000000000001023. J Neuroophthalmol. 2020. PMID: 32991388 Free PMC article. Clinical Trial.
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Page DJ, Miossec MJ, Williams SG, Monaghan RM, Fotiou E, Cordell HJ, Sutcliffe L, Topf A, Bourgey M, Bourque G, Eveleigh R, Dunwoodie SL, Winlaw DS, Bhattacharya S, Breckpot J, Devriendt K, Gewillig M, Brook JD, Setchfield KJ, Bu'Lock FA, O'Sullivan J, Stuart G, Bezzina CR, Mulder BJM, Postma AV, Bentham JR, Baron M, Bhaskar SS, Black GC, Newman WG, Hentges KE, Lathrop GM, Santibanez-Koref M, Keavney BD. Page DJ, et al. Among authors: black gc. Circ Res. 2019 Feb 15;124(4):553-563. doi: 10.1161/CIRCRESAHA.118.313250. Circ Res. 2019. PMID: 30582441 Free PMC article.
Author response.
Ip A, Black G, Vindrola C, Taylor C, Otter S, Hewish M, Bhuiya A, Callin J, Wong A, Machesney M, Fulop NJ, Taylor C, Whitaker KL. Ip A, et al. Among authors: black g. Br J Gen Pract. 2022 Jul 28;72(721):372-373. doi: 10.3399/bjgp22X720245. Print 2022 Aug. Br J Gen Pract. 2022. PMID: 35902248 No abstract available.
Reply.
Inglehearn CF, Yahya S, Smith CEL, Poulter JA, Ali M, Toomes C, Ellingford J, Black GC, Arno G, Webster AR. Inglehearn CF, et al. Among authors: black gc. Ophthalmology. 2023 Mar;130(3):e9-e10. doi: 10.1016/j.ophtha.2022.10.015. Epub 2022 Nov 15. Ophthalmology. 2023. PMID: 36400608 No abstract available.
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM, Barton S, Bhaskar S, O'Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI, Gillespie RL, Daiger SP, Hall G, Gale T, Lloyd IC, Bishop PN, Ramsden SC, Black GCM. Ellingford JM, et al. Among authors: black gcm. J Med Genet. 2016 Nov;53(11):761-767. doi: 10.1136/jmedgenet-2016-103837. Epub 2016 May 11. J Med Genet. 2016. PMID: 27208204 Free PMC article.
Editorial: Enzyme Biocatalysts: Design and Application.
Cui J, Zheng GW, Black G, Iqbal HMN, Bilal M. Cui J, et al. Among authors: black g. Front Chem. 2022 Feb 2;10:851857. doi: 10.3389/fchem.2022.851857. eCollection 2022. Front Chem. 2022. PMID: 35186889 Free PMC article. No abstract available.
698 results