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

Year Number of Results
1804 1
1805 2
1806 1
1821 1
1822 1
1873 1
1885 1
1928 1
1929 3
1930 3
1931 4
1933 4
1935 7
1938 7
1939 1
1940 2
1947 2
1950 7
1954 2
1955 1
1956 2
1957 3
1958 5
1959 8
1960 9
1961 3
1962 4
1963 5
1964 3
1965 2
1966 4
1967 2
1968 5
1969 4
1970 7
1971 1
1972 5
1973 7
1974 12
1975 12
1976 16
1977 13
1978 13
1979 25
1980 23
1981 16
1982 22
1983 24
1984 34
1985 23
1986 39
1987 27
1988 34
1989 38
1990 45
1991 54
1992 59
1993 58
1994 63
1995 74
1996 64
1997 61
1998 58
1999 64
2000 79
2001 69
2002 61
2003 57
2004 52
2005 78
2006 66
2007 91
2008 99
2009 101
2010 100
2011 132
2012 129
2013 148
2014 161
2015 167
2016 173
2017 155
2018 149
2019 173
2020 179
2021 213
2022 128
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Article type
Publication date

Search Results

3,554 results
Results by year
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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: hill s. 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.
Sodium channelopathies in neurodevelopmental disorders.
Meisler MH, Hill SF, Yu W. Meisler MH, et al. Among authors: hill sf. Nat Rev Neurosci. 2021 Mar;22(3):152-166. doi: 10.1038/s41583-020-00418-4. Epub 2021 Feb 2. Nat Rev Neurosci. 2021. PMID: 33531663 Free PMC article. Review.
ACVIM consensus statement on pancreatitis in cats.
Forman MA, Steiner JM, Armstrong PJ, Camus MS, Gaschen L, Hill SL, Mansfield CS, Steiger K. Forman MA, et al. Among authors: hill sl. J Vet Intern Med. 2021 Mar;35(2):703-723. doi: 10.1111/jvim.16053. Epub 2021 Feb 15. J Vet Intern Med. 2021. PMID: 33587762 Free PMC article.
Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring.
Zviran A, Schulman RC, Shah M, Hill STK, Deochand S, Khamnei CC, Maloney D, Patel K, Liao W, Widman AJ, Wong P, Callahan MK, Ha G, Reed S, Rotem D, Frederick D, Sharova T, Miao B, Kim T, Gydush G, Rhoades J, Huang KY, Omans ND, Bolan PO, Lipsky AH, Ang C, Malbari M, Spinelli CF, Kazancioglu S, Runnels AM, Fennessey S, Stolte C, Gaiti F, Inghirami GG, Adalsteinsson V, Houck-Loomis B, Ishii J, Wolchok JD, Boland G, Robine N, Altorki NK, Landau DA. Zviran A, et al. Among authors: hill stk. Nat Med. 2020 Jul;26(7):1114-1124. doi: 10.1038/s41591-020-0915-3. Epub 2020 Jun 1. Nat Med. 2020. PMID: 32483360 Free PMC article.
VCP/p97 regulates Beclin-1-dependent autophagy initiation.
Hill SM, Wrobel L, Ashkenazi A, Fernandez-Estevez M, Tan K, Bürli RW, Rubinsztein DC. Hill SM, et al. Nat Chem Biol. 2021 Apr;17(4):448-455. doi: 10.1038/s41589-020-00726-x. Epub 2021 Jan 28. Nat Chem Biol. 2021. PMID: 33510452
Supermeres are functional extracellular nanoparticles replete with disease biomarkers and therapeutic targets.
Zhang Q, Jeppesen DK, Higginbotham JN, Graves-Deal R, Trinh VQ, Ramirez MA, Sohn Y, Neininger AC, Taneja N, McKinley ET, Niitsu H, Cao Z, Evans R, Glass SE, Ray KC, Fissell WH, Hill S, Rose KL, Huh WJ, Washington MK, Ayers GD, Burnette DT, Sharma S, Rome LH, Franklin JL, Lee YA, Liu Q, Coffey RJ. Zhang Q, et al. Among authors: hill s. Nat Cell Biol. 2021 Dec;23(12):1240-1254. doi: 10.1038/s41556-021-00805-8. Epub 2021 Dec 9. Nat Cell Biol. 2021. PMID: 34887515 Free PMC article.
Neuronal enhancers are hotspots for DNA single-strand break repair.
Wu W, Hill SE, Nathan WJ, Paiano J, Callen E, Wang D, Shinoda K, van Wietmarschen N, Colón-Mercado JM, Zong D, De Pace R, Shih HY, Coon S, Parsadanian M, Pavani R, Hanzlikova H, Park S, Jung SK, McHugh PJ, Canela A, Chen C, Casellas R, Caldecott KW, Ward ME, Nussenzweig A. Wu W, et al. Among authors: hill se. Nature. 2021 May;593(7859):440-444. doi: 10.1038/s41586-021-03468-5. Epub 2021 Mar 25. Nature. 2021. PMID: 33767446
3,554 results