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Page 1
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: lach fp. PLoS One. 2013 Jun 26;8(6):e66961. doi: 10.1371/journal.pone.0066961. Print 2013. PLoS One. 2013. PMID: 23840564 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: lach fp. 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.
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: lach fp. 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.
Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.
Flynn EK, Kamat A, Lach FP, Donovan FX, Kimble DC, Narisu N, Sanborn E, Boulad F, Davies SM, Gillio AP 3rd, Harris RE, MacMillan ML, Wagner JE, Smogorzewska A, Auerbach AD, Ostrander EA, Chandrasekharappa SC. Flynn EK, et al. Among authors: lach fp. Hum Mutat. 2014 Nov;35(11):1342-53. doi: 10.1002/humu.22680. Hum Mutat. 2014. PMID: 25168418 Free PMC article.
Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.
Rickman KA, Lach FP, Abhyankar A, Donovan FX, Sanborn EM, Kennedy JA, Sougnez C, Gabriel SB, Elemento O, Chandrasekharappa SC, Schindler D, Auerbach AD, Smogorzewska A. Rickman KA, et al. Among authors: lach fp. Cell Rep. 2015 Jul 7;12(1):35-41. doi: 10.1016/j.celrep.2015.06.014. Epub 2015 Jun 25. Cell Rep. 2015. PMID: 26119737 Free PMC article.
A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination.
Wang AT, Kim T, Wagner JE, Conti BA, Lach FP, Huang AL, Molina H, Sanborn EM, Zierhut H, Cornes BK, Abhyankar A, Sougnez C, Gabriel SB, Auerbach AD, Kowalczykowski SC, Smogorzewska A. Wang AT, et al. Among authors: lach fp. Mol Cell. 2015 Aug 6;59(3):478-90. doi: 10.1016/j.molcel.2015.07.009. Mol Cell. 2015. PMID: 26253028 Free PMC article.
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: lach fp. 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.
34 results