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Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno GÁ, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Yüksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimoto A, Osaka H, Ammous Z, Argente J, Matsumoto N, Stumpel CTRM, Taylor AMR, Jackson AP, Bielinsky AK, Mailand N, Le Caignec C, Davis EE, Stewart GS. Grange LJ, et al. Among authors: ganesh a. Nat Commun. 2022 Nov 4;13(1):6664. doi: 10.1038/s41467-022-34349-8. Nat Commun. 2022. PMID: 36333305 Free PMC article.
RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.
Abu-Libdeh B, Jhujh SS, Dhar S, Sommers JA, Datta A, Longo GM, Grange LJ, Reynolds JJ, Cooke SL, McNee GS, Hollingworth R, Woodward BL, Ganesh AN, Smerdon SJ, Nicolae CM, Durlacher-Betzer K, Molho-Pessach V, Abu-Libdeh A, Meiner V, Moldovan GL, Roukos V, Harel T, Brosh RM Jr, Stewart GS. Abu-Libdeh B, et al. Among authors: ganesh an. J Clin Invest. 2022 Mar 1;132(5):e147301. doi: 10.1172/JCI147301. J Clin Invest. 2022. PMID: 35025765 Free PMC article.
Human CDK18 promotes replication stress signaling and genome stability.
Barone G, Staples CJ, Ganesh A, Patterson KW, Bryne DP, Myers KN, Patil AA, Eyers CE, Maslen S, Skehel JM, Eyers PA, Collis SJ. Barone G, et al. Among authors: ganesh a. Nucleic Acids Res. 2016 Oct 14;44(18):8772-8785. doi: 10.1093/nar/gkw615. Epub 2016 Jul 5. Nucleic Acids Res. 2016. PMID: 27382066 Free PMC article.
Suppression of apoptosis by PIF1 helicase in human tumor cells.
Gagou ME, Ganesh A, Thompson R, Phear G, Sanders C, Meuth M. Gagou ME, et al. Among authors: ganesh a. Cancer Res. 2011 Jul 15;71(14):4998-5008. doi: 10.1158/0008-5472.CAN-10-4404. Epub 2011 May 26. Cancer Res. 2011. PMID: 21616935
MRNIP/C5orf45 Interacts with the MRN Complex and Contributes to the DNA Damage Response.
Staples CJ, Barone G, Myers KN, Ganesh A, Gibbs-Seymour I, Patil AA, Beveridge RD, Daye C, Beniston R, Maslen S, Ahel I, Skehel JM, Collis SJ. Staples CJ, et al. Among authors: ganesh a. Cell Rep. 2016 Sep 6;16(10):2565-2575. doi: 10.1016/j.celrep.2016.07.087. Epub 2016 Aug 25. Cell Rep. 2016. PMID: 27568553 Free PMC article.
594 results