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

Year Number of Results
1857 1
1901 1
1902 11
1903 13
1904 7
1906 1
1912 1
1923 1
1927 1
1933 1
1938 1
1939 2
1940 2
1945 2
1948 1
1949 1
1951 2
1952 1
1953 1
1954 4
1955 7
1956 6
1957 6
1958 5
1959 8
1960 3
1961 4
1962 4
1963 4
1964 2
1965 5
1966 4
1967 9
1968 2
1969 3
1970 10
1971 4
1972 8
1973 9
1974 10
1975 21
1976 14
1977 9
1978 25
1979 19
1980 14
1981 6
1982 12
1983 15
1984 10
1985 9
1986 9
1987 7
1988 12
1989 19
1990 22
1991 22
1992 12
1993 18
1994 13
1995 19
1996 9
1997 21
1998 16
1999 24
2000 16
2001 19
2002 36
2003 30
2004 52
2005 31
2006 49
2007 52
2008 42
2009 46
2010 57
2011 69
2012 53
2013 57
2014 72
2015 71
2016 78
2017 81
2018 88
2019 73
2020 101
2021 86
2022 74
2023 85
2024 62

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1,827 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. Among authors: stephens j. 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.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Among authors: stephens j. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Preclinical characterization of pirtobrutinib, a highly selective, noncovalent (reversible) BTK inhibitor.
Gomez EB, Ebata K, Randeria HS, Rosendahl MS, Cedervall EP, Morales TH, Hanson LM, Brown NE, Gong X, Stephens J, Wu W, Lippincott I, Ku KS, Walgren RA, Abada PB, Ballard JA, Allerston CK, Brandhuber BJ. Gomez EB, et al. Among authors: stephens j. Blood. 2023 Jul 6;142(1):62-72. doi: 10.1182/blood.2022018674. Blood. 2023. PMID: 36796019 Free PMC article.
Asynchronous Telehealth.
Stephens J, Greenberg GM. Stephens J, et al. Prim Care. 2022 Dec;49(4):531-541. doi: 10.1016/j.pop.2022.05.004. Epub 2022 Oct 20. Prim Care. 2022. PMID: 36357059 Review.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan A, Megy K, Stephens J, Armirola Ricaurte C, Dewhurst E, Low K, French CE, Grozeva D, Stirrups K, Erwood M, McTague A, Penkett CJ, Shamardina O, Tuna S, Daugherty LC, Gleadall N, Duarte ST, Hedrera-Fernández A, Vogt J, Ambegaonkar G, Chitre M, Josifova D, Kurian MA, Parker A, Rankin J, Reid E, Wakeling E, Wassmer E, Woods CG; NIHR BioResource; Raymond FL, Carss KJ. Sanchis-Juan A, et al. Among authors: stephens j. Am J Hum Genet. 2023 Aug 3;110(8):1343-1355. doi: 10.1016/j.ajhg.2023.07.007. Am J Hum Genet. 2023. PMID: 37541188 Free PMC article.
Hepatobiliary Trauma Imaging Update.
Stephens J, Yu HS, Uyeda JW. Stephens J, et al. Radiol Clin North Am. 2022 Sep;60(5):745-754. doi: 10.1016/j.rcl.2022.04.004. Epub 2022 Jul 20. Radiol Clin North Am. 2022. PMID: 35989042 Review.
FGFR inhibition augments anti-PD-1 efficacy in murine FGFR3-mutant bladder cancer by abrogating immunosuppression.
Okato A, Utsumi T, Ranieri M, Zheng X, Zhou M, Pereira LD, Chen T, Kita Y, Wu D, Hyun H, Lee H, Gdowski AS, Raupp JD, Clark-Garvey S, Manocha U, Chafitz A, Sherman F, Stephens J, Rose TL, Milowsky MI, Wobker SE, Serody JS, Damrauer JS, Wong KK, Kim WY. Okato A, et al. Among authors: stephens j. J Clin Invest. 2024 Jan 16;134(2):e169241. doi: 10.1172/JCI169241. J Clin Invest. 2024. PMID: 38226620 Free PMC article.
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.
Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium; Swerdlow DI, Holmes MV, Kuchenbaecker KB, Engmann JE, Shah T, Sofat R, Guo Y, Chung C, Peasey A, Pfister R, Mooijaart SP, Ireland HA, Leusink M, Langenberg C, Li KW, Palmen J, Howard P, Cooper JA, Drenos F, Hardy J, Nalls MA, Li YR, Lowe G, Stewart M, Bielinski SJ, Peto J, Timpson NJ, Gallacher J, Dunlop M, Houlston R, Tomlinson I, Tzoulaki I, Luan J, Boer JM, Forouhi NG, Onland-Moret NC, van der Schouw YT, Schnabel RB, Hubacek JA, Kubinova R, Baceviciene M, Tamosiunas A, Pajak A, Topor-Madry R, Malyutina S, Baldassarre D, Sennblad B, Tremoli E, de Faire U, Ferrucci L, Bandenelli S, Tanaka T, Meschia JF, Singleton A, Navis G, Mateo Leach I, Bakker SJ, Gansevoort RT, Ford I, Epstein SE, Burnett MS, Devaney JM, Jukema JW, Westendorp RG, Jan de Borst G, van der Graaf Y, de Jong PA, Mailand-van der Zee AH, Klungel OH, de Boer A, Doevendans PA, Stephens JW, Eaton CB, Robinson JG, Manson JE, Fowkes FG, Frayling TM, Price JF, Whincup PH, Morris RW, Lawlor DA, Smith GD, Ben-Shlomo Y, Redline S, Lange LA, Kumari M, Wareham NJ, Verschuren WM, Benjamin EJ, Whittaker JC, Hamsten A, Dudbridge F, Delaney JA, Wo… See abstract for full author list ➔ Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium, et al. Among authors: stephens jw. Lancet. 2012 Mar 31;379(9822):1214-24. doi: 10.1016/S0140-6736(12)60110-X. Epub 2012 Mar 14. Lancet. 2012. PMID: 22421340 Free PMC article.
1,827 results