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Results by year

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 10

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397 results

Results by year

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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.
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.
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.
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
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.
Sharing and reporting benefits from biodiversity research.
Marden E, Abbott RJ, Austerlitz F, Ortiz-Barrientos D, Baucom RS, Bongaerts P, Bonin A, Bonneaud C, Browne L, Alex Buerkle C, Caicedo AL, Coltman DW, Cruzan MB, Davison A, DeWoody JA, Dumbrell AJ, Emerson BC, Fountain-Jones NM, Gillespie R, Giraud T, Hansen MM, Hodgins KA, Heuertz M, Hirase S, Hooper R, Hohenlohe P, Kane NC, Kelley JL, Kinziger AP, McKenzie VJ, Moreau CS, Nazareno AG, Pelletier TA, Pemberton JM, Qu Y, Renaut S, Riginos C, Rodríguez-Ezpeleta N, Rogers SM, Russell JA, Schoville SD, Shi S, Smith M, Sork VL, Stone GN, Taberlet P, Videvall E, Waits L, Warschefsky E, Wayne RK, Whibley A, Willoughby J, Yoder JB, Zinger L, Sibbett B, Narum S, Rieseberg LH. Marden E, et al. Among authors: willoughby j. Mol Ecol. 2021 Mar;30(5):1103-1107. doi: 10.1111/mec.15702. Epub 2020 Nov 6. Mol Ecol. 2021. PMID: 33159357 Free article. No abstract available.
Antimalarials.
Willoughby JS, Shear NH. Willoughby JS, et al. Clin Dermatol. 1989 Jul-Sep;7(3):60-8. doi: 10.1016/0738-081x(89)90008-4. Clin Dermatol. 1989. PMID: 2680023 No abstract available.
Long COVID research: an update from the PHOSP-COVID Scientific Summit.
Brightling CE, Evans RA, Singapuri A, Smith N, Wain LV; PHOSP-COVID Collaborative Group. Brightling CE, et al. Lancet Respir Med. 2023 Nov;11(11):e93-e94. doi: 10.1016/S2213-2600(23)00341-7. Epub 2023 Oct 16. Lancet Respir Med. 2023. PMID: 37858329 No abstract available.
397 results