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Formation of new chromatin domains determines pathogenicity of genomic duplications Franke, Martin; Ibrahim, Daniel M; Andrey, Guillaume; Schwarzer, Wibke; ... Mundlos, Stefan 2016
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Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome International Chromosome 22q11.2 Consortium 2015
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Cis and trans effects of human genomic variants on gene expression Bryois, Julien; Buil Demur, Alfonso Alberto; Evans, David M; Kemp, John P; ... Dermitzakis, Emmanouil 2014
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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, Armand; Rimoldi, Donata; Martinet, Danielle; Ibberson, Mark; ... Stevenson, Brian J 2011
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De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features Makrythanasis, Periklis; Moix, Isabelle; Gimelli, Stefania; Fluss, Joel Victor; ... Bottani, Armand 2010