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

Year Number of Results
1951 1
1952 3
1994 1
1995 2
1996 7
1997 2
1998 4
1999 1
2000 2
2001 3
2002 2
2003 5
2004 5
2005 9
2006 7
2007 12
2008 9
2009 9
2010 12
2011 8
2012 4
2013 7
2014 10
2015 19
2016 9
2017 11
2018 12
2019 13
2020 20
2021 18
2022 18
2023 8
2024 6

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225 results

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Page 1
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, Sheppard B, Xu X, Bhaduri A, Norman U, Brand H, Schwartz G, Nguyen R, Guerrero EE, Dias C; Autism Sequencing Consortium; iPSYCH-Broad Consortium; Betancur C, Cook EH, Gallagher L, Gill M, Sutcliffe JS, Thurm A, Zwick ME, Børglum AD, State MW, Cicek AE, Talkowski ME, Cutler DJ, Devlin B, Sanders SJ, Roeder K, Daly MJ, Buxbaum JD. Satterstrom FK, et al. Cell. 2020 Feb 6;180(3):568-584.e23. doi: 10.1016/j.cell.2019.12.036. Epub 2020 Jan 23. Cell. 2020. PMID: 31981491 Free PMC article.
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov AN, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, Maciel P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Cardaropoli S, Carli D, Chan MCY, Fallerini C, Giorgio E, Girardi AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah IN, Schmidt RJ, Smith M, Costa CIS, Trajkova S, Wang JYT, Yu MHC; Autism Sequencing Consortium (ASC); Broad Institute Center for Common Disease Genomics (Broad-CCDG); iPSYCH-BROAD Consortium; Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME. Fu JM, et al. Among authors: maciel p. Nat Genet. 2022 Sep;54(9):1320-1331. doi: 10.1038/s41588-022-01104-0. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982160 Free PMC article.
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM; Autism Sequencing Consortium; Church GM, Scherer SW, Buxbaum JD, Walsh CA. Lim ET, et al. Nat Neurosci. 2017 Sep;20(9):1217-1224. doi: 10.1038/nn.4598. Epub 2017 Jul 17. Nat Neurosci. 2017. PMID: 28714951 Free PMC article.
Polyglutamine spinocerebellar ataxias: emerging therapeutic targets.
Neves-Carvalho A, Duarte-Silva S, Teixeira-Castro A, Maciel P. Neves-Carvalho A, et al. Among authors: maciel p. Expert Opin Ther Targets. 2020 Nov;24(11):1099-1119. doi: 10.1080/14728222.2020.1827394. Epub 2020 Oct 10. Expert Opin Ther Targets. 2020. PMID: 32962458 Review.
Pharmacological Therapies for Machado-Joseph Disease.
Duarte-Silva S, Maciel P. Duarte-Silva S, et al. Among authors: maciel p. Adv Exp Med Biol. 2018;1049:369-394. doi: 10.1007/978-3-319-71779-1_19. Adv Exp Med Biol. 2018. PMID: 29427114 Review.
[Schistosomal myeloradiculopathy].
Silva LC, Maciel PE, Ribas JG, Pereira SR, Serufo JC, Andrade LM, Antunes CM, Lambertucci JR. Silva LC, et al. Among authors: maciel pe. Rev Soc Bras Med Trop. 2004 May-Jun;37(3):261-72. doi: 10.1590/s0037-86822004000300013. Rev Soc Bras Med Trop. 2004. PMID: 15330068 Review. Portuguese.
Drug repurposing of dopaminergic drugs to inhibit ataxin-3 aggregation.
Figueiredo F, Sárkány Z, Silva A, Vilasboas-Campos D, Maciel P, Teixeira-Castro A, Martins PM, Macedo-Ribeiro S. Figueiredo F, et al. Among authors: maciel p. Biomed Pharmacother. 2023 Sep;165:115258. doi: 10.1016/j.biopha.2023.115258. Epub 2023 Aug 5. Biomed Pharmacother. 2023. PMID: 37549460 Free article.
Redefining the MED13L syndrome.
Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Adegbola A, et al. Among authors: maciel p. Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758992 Free PMC article.
Global seasonal prediction of fire danger.
Di Giuseppe F, Vitolo C, Barnard C, Libertá G, Maciel P, San-Miguel-Ayanz J, Villaume S, Wetterhall F. Di Giuseppe F, et al. Among authors: maciel p. Sci Data. 2024 Jan 25;11(1):128. doi: 10.1038/s41597-024-02948-3. Sci Data. 2024. PMID: 38272947 Free PMC article.
225 results