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Ubiquitylation and the Fanconi anemia pathway.
Garner E, Smogorzewska A. Garner E, et al. Among authors: smogorzewska a. FEBS Lett. 2011 Sep 16;585(18):2853-60. doi: 10.1016/j.febslet.2011.04.078. Epub 2011 May 19. FEBS Lett. 2011. PMID: 21605559 Free PMC article. Review.
Mutations of the SLX4 gene in Fanconi anemia.
Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A. Kim Y, et al. Among authors: smogorzewska a. Nat Genet. 2011 Feb;43(2):142-6. doi: 10.1038/ng.750. Epub 2011 Jan 16. Nat Genet. 2011. PMID: 21240275 Free PMC article.
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F. Chaki M, et al. Among authors: smogorzewska a. Cell. 2012 Aug 3;150(3):533-48. doi: 10.1016/j.cell.2012.06.028. Cell. 2012. PMID: 22863007 Free PMC article.
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
Chandrasekharappa SC, Lach FP, Kimble DC, Kamat A, Teer JK, Donovan FX, Flynn E, Sen SK, Thongthip S, Sanborn E, Smogorzewska A, Auerbach AD, Ostrander EA; NISC Comparative Sequencing Program. Chandrasekharappa SC, et al. Among authors: smogorzewska a. Blood. 2013 May 30;121(22):e138-48. doi: 10.1182/blood-2012-12-474585. Epub 2013 Apr 23. Blood. 2013. PMID: 23613520 Free PMC article.
78 results