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 TitleAuthors / EditorsDate
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Mendelian disorders and multifactorial traits: the big divide or one for all? Antonarakis, Stylianos; Chakravarti, Aravinda; Cohen, J. C.; Hardy, John 2010
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A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats Bena, Frédérique; Gimelli, Stefania; Migliavacca, Eugenia; Brun-Druc, Nathalie; ... Sharp, A. J. 2010
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Regulation of fibrinogen production by microRNAs Fort, Alexandre; Borel, Christelle; Migliavacca, Eugenia; Antonarakis, Stylianos; ... Neerman Arbez, Marguerite 2010
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Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing Ratnamala, Uppala; Lyle, Robert; Rawal, Rakesh; Singh, Raminder; ... Radhakrishna, Uppala 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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A user's guide to the encyclopedia of DNA elements (ENCODE) ENCODE Project Consortium 2011
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Mouse models for Down syndrome-associated developmental cognitive disabilities Liu, Chunhong; Belichenko, Pavel V; Zhang, Li; Fu, Dawei; ... Yu, Y Eugene 2011
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DNA methylation profiles of human active and inactive X chromosomes Sharp, Andrew J; Stathaki, Elissavet; Migliavacca, Eugenia; Brahmachary, Manisha; ... Antonarakis, Stylianos 2011
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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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Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing Fasquelle, Lydie; Scott, Hamish S; Lenoir, Marc; Wang, Jing; ... Delprat, Benjamin 2011
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A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia Gimelli, Stefania; Makrythanasis, Periklis; Stouder, Christelle; Antonarakis, Stylianos; ... Sloan Bena, Frédérique 2011
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From sequence to functional understanding: the difficult road ahead Makrythanasis, Periklis; Antonarakis, Stylianos 2011
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Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice Fokstuen, Siv; Munoz, Analia; Melacini, Paola; Iliceto, Sabino; ... Blouin, Jean-Louis 2011
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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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Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report Antonarakis, Stylianos; Fokstuen, Siv; Engel, Eric; Dermitzakis, Emmanouil; ... Mostafavi, Maryam 2011
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Extensive natural variation for cellular hydrogen peroxide release is genetically controlled Attar Cohen, Homa; Bedard, Karen; Migliavacca Voeffray, Eugenia Linda; Gagnebin, Maryline; ... Antonarakis, Stylianos 2012
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Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB. Borel, Christelle; Migliavacca Voeffray, Eugenia Linda; Letourneau, Audrey; Gagnebin, Maryline; ... Antonarakis, Stylianos 2012
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An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium 2012
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High-throughput sequencing and rare genetic diseases Makrythanasis, Periklis; Antonarakis, Stylianos 2012
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A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas Nikolaev, Sergey Igorievich; Sotiriou, Sotirios K; Pateras, Ioannis S; Santoni, Federico; ... Halazonetis, Thanos 2012
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BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients Tlili, Asma; Hoischen, Alexander; Ripoll, Clémentine; Benabou, Eva; ... Janel, Nathalie 2012
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Genomic determinants in the phenotypic variability of Down syndrome Letourneau, Audrey; Antonarakis, Stylianos 2012
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Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes Cossec, Jack-Christophe; Lavaur, Jérémie; Berman, Diego E; Rivals, Isabelle; ... Potier, Marie-Claude 2012
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Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele Radhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; ... Butler, Merlin G 2012
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Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus Radhakrishna, Uppala; Ratnamala, Uppala; Deutsch Escalante, Samuel; Bartoloni Riotto, Lucia; ... Antonarakis, Stylianos 2012
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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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Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion Klopocki, Eva; Lohan, Silke; Doelken, Sandra C; Stricker, Sigmar; ... Mundlos, Stefan 2012
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Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand 2012
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BLUEPRINT to decode the epigenetic signature written in blood Adams, David; Antonarakis, Stylianos; Dermitzakis, Emmanouil 2012
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Cell-type, allelic and genetic signatures in the human pancreatic beta cell transcriptome Nica, Alexandra; Ongen, Halit; Irminger, Jean-Claude; Bosco, Domenico; ... Dermitzakis, Emmanouil 2013
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Genetic and epigenetic regulation of human lincRNA gene expression Popadin, Konstantin; Gutierrez Arcelus, Maria; Dermitzakis, Emmanouil; Antonarakis, Stylianos 2013
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Pathogenic variants in non-protein-coding sequences Makrythanasis, Periklis; Antonarakis, Stylianos 2013
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The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome Sailani, Mohammad Reza; Makrythanasis, Periklis; Valsesia, Armand; Santoni, Federico; ... Antonarakis, Stylianos 2013
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Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia Moore, Daniel J.; Onoufriadis, Alexandros; Shoemark, Amelia; Simpson, Michael A.; ... Mitchison, Hannah M. 2013
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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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Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories 't Hoen, Peter A C; Friedländer, Marc R; Almlöf, Jonas; Sammeth, Michael; ... Lappalainen, Tuuli 2013
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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline 2013
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TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm De Iaco, Alberto; Santoni, Federico; Vannier, Anne; Guipponi, Michel; ... Luban, Jeremy 2013
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Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes Popadin, Konstantin; Nikolaev, Sergey Igorievich; Junier, Thomas; Baranova, Maria; Antonarakis, Stylianos 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 putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome Nikolaev, Sergey Igorievich; Santoni, Federico; Vannier, Anne; Falconnet, Emilie; ... Antonarakis, Stylianos 2013
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Assessment of transcript reconstruction methods for RNA-seq Steijger, Tamara; Abril, Josep F; Engström, Pär G; Kokocinski, Felix; ... Antonarakis, Stylianos 2013
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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study Makrythanasis, Periklis; van Bon, Bw; Merla, Giuseppe; Antonarakis, Stylianos; Hoischen, A 2013
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Transcriptome and genome sequencing uncovers functional variation in humans Lappalainen, Tuuli Emilia; Giger, Thomas; Padioleau, Ismael; Ongen, Halit; ... Dermitzakis, Emmanouil 2013
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Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity Esko, Tõnu; Mezzavilla, Massimo; Nelis, Mari; Borel, Christelle; Antonarakis, Stylianos 2013
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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster Santoni, Federico; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Guipponi, Michel; ... Antonarakis, Stylianos 2014
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Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling Callier, Patrick; Calvel, Pierre; Matevossian, Armine; Makrythanasis, Periklis; ... Nef, Serge 2014
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DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy Picard, Fabienne; Makrythanasis, Periklis; Navarro, Vincent; Ishida, Saeko; ... Baulac, Stéphanie 2014
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Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders Fokstuen, Siv; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Santoni, Federico; ... Blouin, Jean-Louis 2014
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Extrachromosomal driver mutations in glioblastoma and low-grade glioma Nikolaev, Sergey Igorievich; Santoni, Federico; Garieri, Marco; Makrythanasis, Periklis; ... Antonarakis, Stylianos 2014
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