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

Year Number of Results
1964 2
1965 1
1966 3
1967 2
1968 1
1969 1
1970 2
1971 6
1973 1
1974 2
1975 1
1976 5
1977 7
1978 5
1979 6
1980 5
1981 5
1982 5
1983 5
1984 5
1985 11
1986 11
1987 13
1988 7
1989 11
1990 5
1991 6
1992 4
1993 8
1994 3
1995 5
1996 4
1997 2
1998 3
1999 5
2000 5
2001 1
2002 3
2003 5
2004 5
2005 3
2006 2
2007 4
2008 6
2009 2
2010 3
2011 5
2012 6
2013 12
2014 17
2015 18
2016 17
2017 35
2018 31
2019 17
2020 17
2021 20
2022 20
2023 18
2024 29
2025 15
2026 1

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425 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. 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.
Multivalent N-acetylgalactosamine-conjugated siRNA localizes in hepatocytes and elicits robust RNAi-mediated gene silencing.
Nair JK, Willoughby JL, Chan A, Charisse K, Alam MR, Wang Q, Hoekstra M, Kandasamy P, Kel'in AV, Milstein S, Taneja N, O'Shea J, Shaikh S, Zhang L, van der Sluis RJ, Jung ME, Akinc A, Hutabarat R, Kuchimanchi S, Fitzgerald K, Zimmermann T, van Berkel TJ, Maier MA, Rajeev KG, Manoharan M. Nair JK, et al. Among authors: willoughby jl. J Am Chem Soc. 2014 Dec 10;136(49):16958-61. doi: 10.1021/ja505986a. Epub 2014 Dec 1. J Am Chem Soc. 2014. PMID: 25434769 Free article.
The contribution of X-linked coding variation to severe developmental disorders.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J; Deciphering Developmental Disorders Study; Wright CF, FitzPatrick DR, Firth HV, Hurles ME. Martin HC, et al. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 Free PMC article.
Dietary Sugars Alter Hepatic Fatty Acid Oxidation via Transcriptional and Post-translational Modifications of Mitochondrial Proteins.
Softic S, Meyer JG, Wang GX, Gupta MK, Batista TM, Lauritzen HPMM, Fujisaka S, Serra D, Herrero L, Willoughby J, Fitzgerald K, Ilkayeva O, Newgard CB, Gibson BW, Schilling B, Cohen DE, Kahn CR. Softic S, et al. Among authors: willoughby j. Cell Metab. 2019 Oct 1;30(4):735-753.e4. doi: 10.1016/j.cmet.2019.09.003. Cell Metab. 2019. PMID: 31577934 Free PMC article.
5'-(E)-Vinylphosphonate: A Stable Phosphate Mimic Can Improve the RNAi Activity of siRNA-GalNAc Conjugates.
Parmar R, Willoughby JL, Liu J, Foster DJ, Brigham B, Theile CS, Charisse K, Akinc A, Guidry E, Pei Y, Strapps W, Cancilla M, Stanton MG, Rajeev KG, Sepp-Lorenzino L, Manoharan M, Meyers R, Maier MA, Jadhav V. Parmar R, et al. Among authors: willoughby jl. Chembiochem. 2016 Jun 2;17(11):985-9. doi: 10.1002/cbic.201600130. Epub 2016 Apr 28. Chembiochem. 2016. PMID: 27121751
Cohort Profile: Post-Hospitalisation COVID-19 (PHOSP-COVID) study.
Elneima O, McAuley HJC, Leavy OC, Chalmers JD, Horsley A, Ho LP, Marks M, Poinasamy K, Raman B, Shikotra A, Singapuri A, Sereno M, Harris VC, Houchen-Wolloff L, Saunders RM, Greening NJ, Richardson M, Quint JK, Briggs A, Docherty AB, Kerr S, Harrison EM, Lone NI, Thorpe M, Heaney LG, Lewis KE, Aul R, Beirne P, Bolton CE, Brown JS, Choudhury G, Bakerly ND, Easom N, Echevarria C, Fuld J, Hart N, Hurst JR, Jones MG, Parekh D, Pfeffer P, Rahman NM, Rowland-Jones SL, Thompson AR, Jolley C, Shah AM, Wootton DG, Chalder T, Davies MJ, De Soyza A, Geddes JR, Greenhalf W, Heller S, Howard LS, Jacob J, Jenkins RG, Lord JM, Man WD, McCann GP, Neubauer S, Openshaw PJ, Porter JC, Rowland MJ, Scott JT, Semple MG, Singh SJ, Thomas DC, Toshner M, Smith N, Sheikh A, Brightling CE, Wain LV, Evans RA; PHOSP-COVID Collaborative Group. Elneima O, et al. Int J Epidemiol. 2024 Feb 1;53(1):dyad165. doi: 10.1093/ije/dyad165. Int J Epidemiol. 2024. PMID: 39429158 Free PMC article. No abstract available.
Impact of enhanced metabolic stability on pharmacokinetics and pharmacodynamics of GalNAc-siRNA conjugates.
Nair JK, Attarwala H, Sehgal A, Wang Q, Aluri K, Zhang X, Gao M, Liu J, Indrakanti R, Schofield S, Kretschmer P, Brown CR, Gupta S, Willoughby JLS, Boshar JA, Jadhav V, Charisse K, Zimmermann T, Fitzgerald K, Manoharan M, Rajeev KG, Akinc A, Hutabarat R, Maier MA. Nair JK, et al. Among authors: willoughby jls. Nucleic Acids Res. 2017 Nov 2;45(19):10969-10977. doi: 10.1093/nar/gkx818. Nucleic Acids Res. 2017. PMID: 28981809 Free PMC article.
Divergent effects of glucose and fructose on hepatic lipogenesis and insulin signaling.
Softic S, Gupta MK, Wang GX, Fujisaka S, O'Neill BT, Rao TN, Willoughby J, Harbison C, Fitzgerald K, Ilkayeva O, Newgard CB, Cohen DE, Kahn CR. Softic S, et al. Among authors: willoughby j. J Clin Invest. 2017 Nov 1;127(11):4059-4074. doi: 10.1172/JCI94585. Epub 2017 Oct 3. J Clin Invest. 2017. PMID: 28972537 Free PMC article.
Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease.
Liew F, Efstathiou C, Fontanella S, Richardson M, Saunders R, Swieboda D, Sidhu JK, Ascough S, Moore SC, Mohamed N, Nunag J, King C, Leavy OC, Elneima O, McAuley HJC, Shikotra A, Singapuri A, Sereno M, Harris VC, Houchen-Wolloff L, Greening NJ, Lone NI, Thorpe M, Thompson AAR, Rowland-Jones SL, Docherty AB, Chalmers JD, Ho LP, Horsley A, Raman B, Poinasamy K, Marks M, Kon OM, Howard LS, Wootton DG, Quint JK, de Silva TI, Ho A, Chiu C, Harrison EM, Greenhalf W, Baillie JK, Semple MG, Turtle L, Evans RA, Wain LV, Brightling C, Thwaites RS, Openshaw PJM; PHOSP-COVID collaborative group; ISARIC investigators. Liew F, et al. Nat Immunol. 2024 Apr;25(4):607-621. doi: 10.1038/s41590-024-01778-0. Epub 2024 Apr 8. Nat Immunol. 2024. PMID: 38589621 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183 Free PMC article.
425 results