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Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.
Donovan FX, Kimble DC, Kim Y, Lach FP, Harper U, Kamat A, Jones M, Sanborn EM, Tryon R, Wagner JE, MacMillan ML, Ostrander EA, Auerbach AD, Smogorzewska A, Chandrasekharappa SC. Donovan FX, et al. Among authors: smogorzewska a. Hum Mutat. 2016 May;37(5):465-8. doi: 10.1002/humu.22962. Epub 2016 Feb 23. Hum Mutat. 2016. PMID: 26841305 Free PMC article.
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.
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.
Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.
Gineau L, Cognet C, Kara N, Lach FP, Dunne J, Veturi U, Picard C, Trouillet C, Eidenschenk C, Aoufouchi S, Alcaïs A, Smith O, Geissmann F, Feighery C, Abel L, Smogorzewska A, Stillman B, Vivier E, Casanova JL, Jouanguy E. Gineau L, et al. Among authors: smogorzewska a. J Clin Invest. 2012 Mar;122(3):821-32. doi: 10.1172/JCI61014. Epub 2012 Feb 22. J Clin Invest. 2012. PMID: 22354167 Free PMC article.
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
Zhou W, Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, Lach FP, Bennett GR, Gee HY, Ghosh AK, Natarajan S, Thongthip S, Veturi U, Allen SJ, Janssen S, Ramaswami G, Dixon J, Burkhalter F, Spoendlin M, Moch H, Mihatsch MJ, Verine J, Reade R, Soliman H, Godin M, Kiss D, Monga G, Mazzucco G, Amann K, Artunc F, Newland RC, Wiech T, Zschiedrich S, Huber TB, Friedl A, Slaats GG, Joles JA, Goldschmeding R, Washburn J, Giles RH, Levy S, Smogorzewska A, Hildebrandt F. Zhou W, et al. Among authors: smogorzewska a. Nat Genet. 2012 Jul 8;44(8):910-5. doi: 10.1038/ng.2347. Nat Genet. 2012. PMID: 22772369 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.
Assessment of SLX4 Mutations in Hereditary Breast Cancers.
Shah S, Kim Y, Ostrovnaya I, Murali R, Schrader KA, Lach FP, Sarrel K, Rau-Murthy R, Hansen N, Zhang L, Kirchhoff T, Stadler Z, Robson M, Vijai J, Offit K, Smogorzewska A. Shah S, et al. Among authors: smogorzewska a. PLoS One. 2013 Jun 26;8(6):e66961. doi: 10.1371/journal.pone.0066961. Print 2013. PLoS One. 2013. PMID: 23840564 Free PMC article.
78 results