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Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita.
Nachmani D, Bothmer AH, Grisendi S, Mele A, Bothmer D, Lee JD, Monteleone E, Cheng K, Zhang Y, Bester AC, Guzzetti A, Mitchell CA, Mendez LM, Pozdnyakova O, Sportoletti P, Martelli MP, Vulliamy TJ, Safra M, Schwartz S, Luzzatto L, Bluteau O, Soulier J, Darnell RB, Falini B, Dokal I, Ito K, Clohessy JG, Pandolfi PP. Nachmani D, et al. Among authors: schwartz s. Nat Genet. 2019 Oct;51(10):1518-1529. doi: 10.1038/s41588-019-0502-z. Epub 2019 Sep 30. Nat Genet. 2019. PMID: 31570891 Free PMC article.
The epitranscriptome beyond m6A.
Wiener D, Schwartz S. Wiener D, et al. Among authors: schwartz s. Nat Rev Genet. 2021 Feb;22(2):119-131. doi: 10.1038/s41576-020-00295-8. Epub 2020 Nov 13. Nat Rev Genet. 2021. PMID: 33188361 Review.
Topology of the human and mouse m6A RNA methylomes revealed by m6A-seq.
Dominissini D, Moshitch-Moshkovitz S, Schwartz S, Salmon-Divon M, Ungar L, Osenberg S, Cesarkas K, Jacob-Hirsch J, Amariglio N, Kupiec M, Sorek R, Rechavi G. Dominissini D, et al. Among authors: schwartz s. Nature. 2012 Apr 29;485(7397):201-6. doi: 10.1038/nature11112. Nature. 2012. PMID: 22575960
Single-cell transcriptomics reveals bimodality in expression and splicing in immune cells.
Shalek AK, Satija R, Adiconis X, Gertner RS, Gaublomme JT, Raychowdhury R, Schwartz S, Yosef N, Malboeuf C, Lu D, Trombetta JJ, Gennert D, Gnirke A, Goren A, Hacohen N, Levin JZ, Park H, Regev A. Shalek AK, et al. Among authors: schwartz s. Nature. 2013 Jun 13;498(7453):236-40. doi: 10.1038/nature12172. Epub 2013 May 19. Nature. 2013. PMID: 23685454 Free PMC article.
5,621 results