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Results by year

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 215
2022 168
2023 175
2024 105

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Search Results

3,830 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: 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.
Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.
Seddighi S, Qi YA, Brown AL, Wilkins OG, Bereda C, Belair C, Zhang Y, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Hill SE, Hawrot J, Ramos DM, Yuan H, Roberts J, Kelmer Sacramento E, Shah SI, Nalls MA, Colon-Mercado J, Reyes JF, Ryan VH, Nelson MP, Cook C, Li Z, Screven L, Kwan JY, Shantaraman A, Ping L, Koike Y, Oskarsson B, Staff N, Duong DM, Ahmed A, Secrier M, Ule J, Jacobson S, Rohrer J, Malaspina A, Glass JD, Ori A, Seyfried NT, Maragkakis M, Petrucelli L, Fratta P, Ward ME. Seddighi S, et al. Among authors: hill se. bioRxiv [Preprint]. 2023 Jan 23:2023.01.23.525149. doi: 10.1101/2023.01.23.525149. bioRxiv. 2023. Update in: Sci Transl Med. 2024 Feb 14;16(734):eadg7162. doi: 10.1126/scitranslmed.adg7162. PMID: 36747793 Free PMC article. Updated. Preprint.
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P. Brown AL, et al. Among authors: hill se. Nature. 2022 Mar;603(7899):131-137. doi: 10.1038/s41586-022-04436-3. Epub 2022 Feb 23. Nature. 2022. PMID: 35197628 Free PMC article.
Small-Volume Blood Collection Tubes to Reduce Transfusions in Intensive Care: The STRATUS Randomized Clinical Trial.
Siegal DM, Belley-Côté EP, Lee SF, Hill S, D'Aragon F, Zarychanski R, Rochwerg B, Chassé M, Binnie A, Honarmand K, Lauzier F, Ball I, Al-Hazzani W, Archambault P, Duan E, Khwaja K, Lellouche F, Lysecki P, Marquis F, Naud JF, Shahin J, Shea J, Tsang JLY, Wang HT, Crowther M, Arnold DM, Di Sante E, Marfo G, Kovalova T, Fonguh S, Vincent J, Connolly SJ. Siegal DM, et al. Among authors: hill s. JAMA. 2023 Nov 21;330(19):1872-1881. doi: 10.1001/jama.2023.20820. JAMA. 2023. PMID: 37824152 Free PMC article. Clinical Trial.
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 Free PMC article.
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.
Plasma membrane preassociation drives β-arrestin coupling to receptors and activation.
Grimes J, Koszegi Z, Lanoiselée Y, Miljus T, O'Brien SL, Stepniewski TM, Medel-Lacruz B, Baidya M, Makarova M, Mistry R, Goulding J, Drube J, Hoffmann C, Owen DM, Shukla AK, Selent J, Hill SJ, Calebiro D. Grimes J, et al. Among authors: hill sj. Cell. 2023 May 11;186(10):2238-2255.e20. doi: 10.1016/j.cell.2023.04.018. Epub 2023 May 4. Cell. 2023. PMID: 37146613 Free PMC article.
cfDNA methylome profiling for detection and subtyping of small cell lung cancers.
Chemi F, Pearce SP, Clipson A, Hill SM, Conway AM, Richardson SA, Kamieniecka K, Caeser R, White DJ, Mohan S, Foy V, Simpson KL, Galvin M, Frese KK, Priest L, Egger J, Kerr A, Massion PP, Poirier JT, Brady G, Blackhall F, Rothwell DG, Rudin CM, Dive C. Chemi F, et al. Among authors: hill sm. Nat Cancer. 2022 Oct;3(10):1260-1270. doi: 10.1038/s43018-022-00415-9. Epub 2022 Aug 8. Nat Cancer. 2022. PMID: 35941262 Free PMC article.
Nutrition and Intestinal Rehabilitation of Children With Short Bowel Syndrome: A Position Paper of the ESPGHAN Committee on Nutrition. Part 1: From Intestinal Resection to Home Discharge.
Norsa L, Goulet O, Alberti D, DeKooning B, Domellöf M, Haiden N, Hill S, Indrio F, Kӧglmeier J, Lapillonne A, Luque V, Moltu SJ, Saenz De Pipaon M, Savino F, Verduci E, Bronsky J. Norsa L, et al. Among authors: hill s. J Pediatr Gastroenterol Nutr. 2023 Aug 1;77(2):281-297. doi: 10.1097/MPG.0000000000003849. Epub 2023 May 31. J Pediatr Gastroenterol Nutr. 2023. PMID: 37256827
3,830 results