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Results by year

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

Year Number of Results
1947 1
1948 2
1949 1
1951 2
1952 1
1954 2
1955 1
1958 3
1963 1
1964 1
1965 1
1966 2
1967 4
1968 4
1969 3
1970 5
1971 5
1972 2
1973 2
1974 2
1975 4
1976 3
1977 3
1978 3
1979 4
1980 4
1981 4
1982 4
1983 4
1984 3
1985 2
1986 3
1987 7
1988 2
1989 1
1990 5
1991 5
1992 6
1993 4
1994 4
1995 7
1996 11
1997 13
1998 15
1999 6
2000 14
2001 11
2002 14
2003 15
2004 27
2005 17
2006 26
2007 31
2008 25
2009 28
2010 40
2011 32
2012 44
2013 43
2014 47
2015 64
2016 58
2017 44
2018 65
2019 59
2020 60
2021 42
2022 39
Text availability
Article attribute
Article type
Publication date

Search Results

916 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, Izatt L, Josifova D, Mohammed S, Robert L, Rose S, Ruddy D, Sarkany R, Say G, Shaw AC, Wolejko A, Habib B, Burns G, Hunter S, Grocock RJ, Humphray SJ, Robinson PN, Haendel M, Simpson MA, Banka S, Clayton-Smith J, Douzgou S, Hall G, Thomas HB, O'Keefe RT, Michaelides M, Moore AT, Malka S, Pontikos N, Browning AC, Straub V, Gorman GS, Horvath R, Quinton R, Schaefer AM, Yu-Wai-Man P, Turnbull DM, McFarland R, Taylor RW, O'Connor E, Yip J, Newland K, Morris HR, Polke J, Wood NW, Campbell C, Camps C, Gibson K, Koelling N, Lester T, Németh AH, Palles C, Patel S, Roy NBA, Sen A, Taylor J, Cacheiro P, Jacobsen JO, Seaby EG, Davison V, Chitty L, Douglas A, Naresh K, McMullan D, Ellard S, Temple IK, Mumford AD, Wilson G, Beales P, Bitner-Glindzicz M, Black G, Bradley JR, Brennan P, Burn J, Chinnery PF, Elliott P, Flinter F, Houlden H, Irving M, Newman W, Rahman S, Sayer JA, Taylor JC, Webster AR, Wilkie AOM, Ouwehand WH, Raymond FL, Chisholm J, Hill S, Bentley D, Scott RH, Fowler T, Rendon A, Caulfield M. 100,000 Genomes Project Pilot Investigators, et al. Among authors: taylor rw. 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.
Mitochondrial disease in adults: recent advances and future promise.
Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM. Ng YS, et al. Among authors: taylor rw. Lancet Neurol. 2021 Jul;20(7):573-584. doi: 10.1016/S1474-4422(21)00098-3. Lancet Neurol. 2021. PMID: 34146515 Review.
The genetics and pathology of mitochondrial disease.
Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. Alston CL, et al. Among authors: taylor rw. J Pathol. 2017 Jan;241(2):236-250. doi: 10.1002/path.4809. Epub 2016 Nov 2. J Pathol. 2017. PMID: 27659608 Free PMC article. Review.
Emerging roles of ATG7 in human health and disease.
Collier JJ, Suomi F, Oláhová M, McWilliams TG, Taylor RW. Collier JJ, et al. Among authors: taylor rw. EMBO Mol Med. 2021 Dec 7;13(12):e14824. doi: 10.15252/emmm.202114824. Epub 2021 Nov 2. EMBO Mol Med. 2021. PMID: 34725936 Free PMC article. Review.
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
Collier JJ, Guissart C, Oláhová M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schöls L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW. Collier JJ, et al. Among authors: taylor rw. N Engl J Med. 2021 Jun 24;384(25):2406-2417. doi: 10.1056/NEJMoa1915722. N Engl J Med. 2021. PMID: 34161705 Free PMC article.
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mráček T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. Oláhová M, et al. Among authors: taylor rw. Nat Commun. 2021 Feb 18;12(1):1135. doi: 10.1038/s41467-021-21279-0. Nat Commun. 2021. PMID: 33602924 Free PMC article.
Mosaic dysfunction of mitophagy in mitochondrial muscle disease.
Mito T, Vincent AE, Faitg J, Taylor RW, Khan NA, McWilliams TG, Suomalainen A. Mito T, et al. Among authors: taylor rw. Cell Metab. 2022 Feb 1;34(2):197-208.e5. doi: 10.1016/j.cmet.2021.12.017. Epub 2022 Jan 13. Cell Metab. 2022. PMID: 35030325 Free PMC article.
Recent Advances in Mitochondrial Disease.
Craven L, Alston CL, Taylor RW, Turnbull DM. Craven L, et al. Among authors: taylor rw. Annu Rev Genomics Hum Genet. 2017 Aug 31;18:257-275. doi: 10.1146/annurev-genom-091416-035426. Epub 2017 Apr 17. Annu Rev Genomics Hum Genet. 2017. PMID: 28415858 Free article. Review.
916 results