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Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma.
Valsesia A, Rimoldi D, Martinet D, Ibberson M, Benaglio P, Quadroni M, Waridel P, Gaillard M, Pidoux M, Rapin B, Rivolta C, Xenarios I, Simpson AJ, Antonarakis SE, Beckmann JS, Jongeneel CV, Iseli C, Stevenson BJ. Valsesia A, et al. Among authors: beckmann js. PLoS One. 2011 Apr 8;6(4):e18369. doi: 10.1371/journal.pone.0018369. PLoS One. 2011. PMID: 21494657 Free PMC article.
Promoter polymorphisms and allelic imbalance in ABCB1 expression.
Loeuillet C, Weale M, Deutsch S, Rotger M, Soranzo N, Wyniger J, Lettre G, Dupré Y, Thuillard D, Beckmann JS, Antonarakis SE, Goldstein DB, Telenti A. Loeuillet C, et al. Among authors: beckmann js. Pharmacogenet Genomics. 2007 Nov;17(11):951-9. doi: 10.1097/FPC.0b013e3282eff934. Pharmacogenet Genomics. 2007. PMID: 18075465
In vitro whole-genome analysis identifies a susceptibility locus for HIV-1.
Loeuillet C, Deutsch S, Ciuffi A, Robyr D, Taffé P, Muñoz M, Beckmann JS, Antonarakis SE, Telenti A. Loeuillet C, et al. Among authors: beckmann js. PLoS Biol. 2008 Feb;6(2):e32. doi: 10.1371/journal.pbio.0060032. PLoS Biol. 2008. PMID: 18288889 Free PMC article.
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.
Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide AC, Dahoun S, Bottani A, Addor MC, Antonarakis SE, Beckmann JS, Béna F. Martinet D, et al. Among authors: beckmann js. Am J Med Genet A. 2008 Aug 15;146A(16):2094-102. doi: 10.1002/ajmg.a.32414. Am J Med Genet A. 2008. PMID: 18629875
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C. Nishiguchi KM, et al. Among authors: beckmann js. Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-44. doi: 10.1073/pnas.1308243110. Epub 2013 Sep 16. Proc Natl Acad Sci U S A. 2013. PMID: 24043777 Free PMC article.
405 results