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Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients Laurent, Sacha; Gehrig, Corinne; Nouspikel, Thierry; Amr, Sami S; ... Guipponi, Michel 2021
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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos 2016
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Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing Gutierrez Arcelus, Maria; Ongen, Halit; Lappalainen, Tuuli Emilia; Montgomery, Stephen; ... Dermitzakis, Emmanouil 2015
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Galanin pathogenic mutations in temporal lobe epilepsy Guipponi, Michel; Chentouf, Amina; Webling, Kristin E B; Freimann, Krista; ... Antonarakis, Stylianos 2015
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DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins Sailani, Mohammad Reza; Santoni, Federico; Letourneau, Audrey; Borel, Christelle; ... Antonarakis, Stylianos 2015
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Domains of genome-wide gene expression dysregulation in Down's syndrome Letourneau, Audrey; Santoni, Federico; Bonilla Bustillo, Ximena; Sailani, Mohammad Reza; ... Antonarakis, Stylianos 2014
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Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes Guipponi, Michel; Santoni, Federico; Setola, Vincent; Gehrig, Corinne; ... Antonarakis, Stylianos 2014
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Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications Coppola, Antonietta; Romito, Antonio; Borel, Christelle; Gehrig, Corinne; ... Cobellis, Gilda 2013
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Passive and active DNA methylation and the interplay with genetic variation in gene regulation Gutierrez Arcelus, Maria; Lappalainen, Tuuli Emilia; Montgomery, Stephen; Buil Demur, Alfonso Alberto; ... Dermitzakis, Emmanouil 2013
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Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma Nikolaev, Sergey Igorievich; Rimoldi, Donata; Iseli, Christian; Valsesia, Armand; ... Antonarakis, Stylianos 2012
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Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences Robyr, Daniel; Friedli, Marc; Gehrig, Corinne; Arcangeli, Mélanie; ... Antonarakis, Stylianos 2011
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Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts Borel, Christelle; Deutsch Escalante, Samuel; Letourneau, Audrey; Migliavacca Voeffray, Eugenia Linda; ... Antonarakis, Stylianos 2011
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Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing Nikolaev, S. I.; Iseli, Christian; Sharp, A. J.; Robyr, Daniel; ... Antonarakis, Stylianos 2009
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Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres Moldrich, R. X.; Dauphinot, Luce; Laffaire, Julien; Vitalis, Tania; ... Potier, M. C. 2009
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Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 Lyle, Robert; Bena, Frédérique; Gagos, Sarantis; Gehrig, Corinne; ... Antonarakis, Stylianos 2009
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Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events Dahoun, Sophie; Gagos, Sarantis; Gagnebin, Maryline; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
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Mapping of small RNAs in the human ENCODE regions Borel, Christelle; Gagnebin, Maryline; Gehrig, Corinne; Kriventseva, Evgenia; ... Antonarakis, Stylianos 2008
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A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy Fokstuen, Siv; Lyle, Robert; Munoz, Analia; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
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Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance Prandini, Paola; Deutsch, Samuel; Lyle, Robert; Gagnebin, Maryline; ... Antonarakis, Stylianos 2007
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Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region Lyle, Robert; Radhakrishna, Uppala; Blouin, Jean-Louis; Gagos, Sarantis; ... Antonarakis, Stylianos 2006
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