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

Year Number of Results
1850 1
1859 1
1864 1
1865 1
1868 2
1871 4
1872 1
1873 3
1874 5
1875 2
1877 1
1881 1
1882 1
1883 6
1884 4
1885 1
1887 2
1888 3
1889 2
1890 1
1891 2
1892 3
1895 1
1899 1
1900 1
1901 5
1902 5
1903 2
1904 4
1905 3
1906 1
1907 1
1911 1
1912 1
1919 1
1925 1
1928 1
1933 1
1934 1
1935 1
1940 1
1945 6
1946 14
1947 8
1948 3
1949 12
1950 8
1951 11
1952 3
1953 12
1954 9
1955 7
1956 10
1957 4
1958 3
1959 6
1960 7
1961 5
1962 5
1963 4
1964 4
1965 6
1966 10
1967 10
1968 9
1969 11
1970 5
1971 14
1972 20
1973 24
1974 22
1975 27
1976 18
1977 26
1978 20
1979 32
1980 36
1981 44
1982 25
1983 44
1984 51
1985 46
1986 52
1987 60
1988 53
1989 56
1990 59
1991 55
1992 44
1993 51
1994 53
1995 64
1996 89
1997 70
1998 72
1999 65
2000 71
2001 75
2002 89
2003 68
2004 82
2005 121
2006 106
2007 114
2008 138
2009 131
2010 131
2011 200
2012 185
2013 183
2014 187
2015 190
2016 213
2017 258
2018 230
2019 219
2020 230
2021 272
2022 228
2023 230
2024 166

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5,165 results

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Page 1
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Among authors: wright cf. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
Ureaplasma species and preterm birth: current perspectives.
Sprong KE, Mabenge M, Wright CA, Govender S. Sprong KE, et al. Among authors: wright ca. Crit Rev Microbiol. 2020 Mar;46(2):169-181. doi: 10.1080/1040841X.2020.1736986. Epub 2020 Mar 6. Crit Rev Microbiol. 2020. PMID: 32141797 Review.
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM; Geisinger-Regeneron DiscovEHR Collaboration; Frayling TF, Hattersley AT, Carey DJ, Weedon MN, Patel KA. Mirshahi UL, et al. Among authors: wright cf. Am J Hum Genet. 2022 Nov 3;109(11):2018-2028. doi: 10.1016/j.ajhg.2022.09.014. Epub 2022 Oct 17. Am J Hum Genet. 2022. PMID: 36257325 Free PMC article.
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.
Shekari S, Stankovic S, Gardner EJ, Hawkes G, Kentistou KA, Beaumont RN, Mörseburg A, Wood AR, Prague JK, Mishra GD, Day FR, Baptista J, Wright CF, Weedon MN, Hoffmann ER, Ruth KS, Ong KK, Perry JRB, Murray A. Shekari S, et al. Among authors: wright cf. Nat Med. 2023 Jul;29(7):1692-1699. doi: 10.1038/s41591-023-02405-5. Epub 2023 Jun 22. Nat Med. 2023. PMID: 37349538
Reply.
Wright CJ, Glaser K, Speer CP, Härtel C, Roehr CC. Wright CJ, et al. J Pediatr. 2023 Jun;257:113363. doi: 10.1016/j.jpeds.2023.02.009. Epub 2023 Feb 23. J Pediatr. 2023. PMID: 36828344 No abstract available.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche … See abstract for full author list ➔ Chen Y, et al. Among authors: wright cf. Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. Nature. 2024. PMID: 38991538 Free PMC article.
Thrombocytopenia and platelet transfusions in ICU patients: an international inception cohort study (PLOT-ICU).
Anthon CT, Pène F, Perner A, Azoulay E, Puxty K, Van De Louw A, Barratt-Due A, Chawla S, Castro P, Póvoa P, Coelho L, Metaxa V, Kochanek M, Liebregts T, Kander T, Hästbacka J, Andreasen JB, Péju E, Nielsen LB, Hvas CL, Dufranc E, Canet E, Lundqvist L, Wright CJ, Schmidt J, Uhel F, Ait-Oufella H, Krag M, Cos Badia E, Díaz-Lagares C, Menat S, Voiriot G, Clausen NE, Lorentzen K, Kvåle R, Hildebrandt T, Holten AR, Strand K, Tzalavras A, Bestle MH, Klepstad P, Fernandez S, Vimpere D, Paulino C, Graça C, Lueck C, Juhl CS, Costa C, Bådstøløkken PM, Miranda T, Lêdo LSA, Sousa Torres JC, Granholm A, Møller MH, Russell L; on behalf of the PLOT-ICU Collaborators and the Nine-I Study Group. Anthon CT, et al. Among authors: wright cj. Intensive Care Med. 2023 Nov;49(11):1327-1338. doi: 10.1007/s00134-023-07225-2. Epub 2023 Oct 9. Intensive Care Med. 2023. PMID: 37812225 Free PMC article.
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Adams PM, … See abstract for full author list ➔ Sims R, et al. Among authors: wright cb. Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17. Nat Genet. 2017. PMID: 28714976 Free PMC article.
5,165 results