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

Year Number of Results
1984 1
1985 2
1986 1
1988 3
1989 2
1990 1
1991 2
1993 1
1994 5
1996 3
1997 2
1998 2
1999 5
2000 7
2001 9
2002 7
2003 9
2004 6
2005 3
2006 1
2007 7
2008 3
2009 4
2010 2
2011 3
2012 3
2013 5
2014 3
2016 5
2017 3
2018 4
2019 8
2020 4
2021 4
2022 2
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Article type
Publication date

Search Results

125 results
Results by year
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Page 1
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K. Guo H, et al. Among authors: pevsner j. Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep. Sci Adv. 2019. PMID: 31579823 Free PMC article.
Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.
Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J. Shirley MD, et al. Among authors: pevsner j. N Engl J Med. 2013 May 23;368(21):1971-9. doi: 10.1056/NEJMoa1213507. Epub 2013 May 8. N Engl J Med. 2013. PMID: 23656586 Free PMC article.
Mosaicism in Human Health and Disease.
Thorpe J, Osei-Owusu IA, Avigdor BE, Tupler R, Pevsner J. Thorpe J, et al. Among authors: pevsner j. Annu Rev Genet. 2020 Nov 23;54:487-510. doi: 10.1146/annurev-genet-041720-093403. Epub 2020 Sep 11. Annu Rev Genet. 2020. PMID: 32916079 Free PMC article. Review.
The case for open science: rare diseases.
Rubinstein YR, Robinson PN, Gahl WA, Avillach P, Baynam G, Cederroth H, Goodwin RM, Groft SC, Hansson MG, Harris NL, Huser V, Mascalzoni D, McMurry JA, Might M, Nellaker C, Mons B, Paltoo DN, Pevsner J, Posada M, Rockett-Frase AP, Roos M, Rubinstein TB, Taruscio D, van Enckevort E, Haendel MA. Rubinstein YR, et al. Among authors: pevsner j. JAMIA Open. 2020 Sep 11;3(3):472-486. doi: 10.1093/jamiaopen/ooaa030. eCollection 2020 Oct. JAMIA Open. 2020. PMID: 33426479 Free PMC article. Review.
Somatic mosaicism in the human genome.
Freed D, Stevens EL, Pevsner J. Freed D, et al. Among authors: pevsner j. Genes (Basel). 2014 Dec 11;5(4):1064-94. doi: 10.3390/genes5041064. Genes (Basel). 2014. PMID: 25513881 Free PMC article. Review.
Molecular mechanisms of olfaction.
Snyder SH, Sklar PB, Hwang PM, Pevsner J. Snyder SH, et al. Among authors: pevsner j. Trends Neurosci. 1989 Jan;12(1):35-8. doi: 10.1016/0166-2236(89)90154-9. Trends Neurosci. 1989. PMID: 2471337 Review.
Molecular mechanisms of olfaction.
Snyder SH, Sklar PB, Pevsner J. Snyder SH, et al. Among authors: pevsner j. J Biol Chem. 1988 Oct 5;263(28):13971-4. J Biol Chem. 1988. PMID: 2459115 Free article. Review. No abstract available.
Leonardo da Vinci's studies of the brain.
Pevsner J. Pevsner J. Lancet. 2019 Apr 6;393(10179):1465-1472. doi: 10.1016/S0140-6736(19)30302-2. Epub 2019 Apr 4. Lancet. 2019. PMID: 30967217 Review.
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.
Fjær R, Marciniak K, Sundnes O, Hjorthaug H, Sheng Y, Hammarström C, Sitek JC, Vigeland MD, Backe PH, Øye AM, Fosse JH, Stav-Noraas TE, Uchiyama Y, Matsumoto N, Comi A, Pevsner J, Haraldsen G, Selmer KK. Fjær R, et al. Among authors: pevsner j. Hum Mol Genet. 2021 Oct 13;30(21):1919-1931. doi: 10.1093/hmg/ddab144. Hum Mol Genet. 2021. PMID: 34124757 Free PMC article.
Long-read single-molecule maps of the functional methylome.
Sharim H, Grunwald A, Gabrieli T, Michaeli Y, Margalit S, Torchinsky D, Arielly R, Nifker G, Juhasz M, Gularek F, Almalvez M, Dufault B, Chandra SS, Liu A, Bhattacharya S, Chen YW, Vilain E, Wagner KR, Pevsner J, Reifenberger J, Lam ET, Hastie AR, Cao H, Barseghyan H, Weinhold E, Ebenstein Y. Sharim H, et al. Among authors: pevsner j. Genome Res. 2019 Apr;29(4):646-656. doi: 10.1101/gr.240739.118. Epub 2019 Mar 7. Genome Res. 2019. PMID: 30846530 Free PMC article.
125 results