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

Year Number of Results
1886 1
1898 1
1911 1
1923 1
1940 2
1942 2
1943 2
1945 5
1946 5
1947 3
1948 11
1949 7
1950 3
1951 5
1952 5
1953 10
1954 7
1955 7
1956 3
1957 8
1958 5
1959 2
1960 9
1961 5
1962 5
1963 1
1964 4
1965 1
1966 2
1967 3
1968 1
1969 6
1970 7
1971 11
1972 4
1973 9
1974 7
1975 13
1976 7
1977 8
1978 10
1979 13
1980 8
1981 7
1982 5
1983 11
1984 6
1985 11
1986 7
1987 13
1988 13
1989 12
1990 16
1991 20
1992 16
1993 12
1994 18
1995 19
1996 19
1997 19
1998 18
1999 27
2000 23
2001 12
2002 25
2003 17
2004 26
2005 19
2006 29
2007 28
2008 27
2009 25
2010 46
2011 43
2012 80
2013 57
2014 55
2015 87
2016 74
2017 60
2018 62
2019 59
2020 71
2021 100
2022 80
2023 71
2024 89
2025 63

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1,676 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: lord j. 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.
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Fr… See abstract for full author list ➔ Kunkle BW, et al. Among authors: lord j. Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2. Epub 2019 Feb 28. Nat Genet. 2019. PMID: 30820047 Free PMC article.
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: lord j. 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.
APOE3ch alters microglial response and suppresses Aβ-induced tau seeding and spread.
Chen Y, Song S, Parhizkar S, Lord J, Zhu Y, Strickland MR, Wang C, Park J, Tabor GT, Jiang H, Li K, Davis AA, Yuede CM, Colonna M, Ulrich JD, Holtzman DM. Chen Y, et al. Among authors: lord j. Cell. 2024 Jan 18;187(2):428-445.e20. doi: 10.1016/j.cell.2023.11.029. Epub 2023 Dec 11. Cell. 2024. PMID: 38086389 Free PMC article.
Sarcopenia in chronic liver disease: mechanisms and countermeasures.
Allen SL, Quinlan JI, Dhaliwal A, Armstrong MJ, Elsharkawy AM, Greig CA, Lord JM, Lavery GG, Breen L. Allen SL, et al. Among authors: lord jm. Am J Physiol Gastrointest Liver Physiol. 2021 Mar 1;320(3):G241-G257. doi: 10.1152/ajpgi.00373.2020. Epub 2020 Nov 25. Am J Physiol Gastrointest Liver Physiol. 2021. PMID: 33236953 Free PMC article. Review.
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. Ellingford JM, et al. Among authors: lord j. Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3. Genome Med. 2022. PMID: 35850704 Free PMC article.
Landiolol and Organ Failure in Patients With Septic Shock: The STRESS-L Randomized Clinical Trial.
Whitehouse T, Hossain A, Perkins GD, Gordon AC, Bion J, Young D, McAuley D, Singer M, Lord J, Gates S, Veenith T, MacCallum NS, Yeung J, Innes R, Welters I, Boota N, Skilton E, Ghuman B, Hill M, Regan SE, Mistry D, Lall R; STRESS-L Collaborators. Whitehouse T, et al. Among authors: lord j. JAMA. 2023 Nov 7;330(17):1641-1652. doi: 10.1001/jama.2023.20134. JAMA. 2023. PMID: 37877587 Free PMC article.
1,676 results