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 TitleAuthors / EditorsDate
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Alternative Splicing QTLs in European and African Populations Ongen, Halit; Dermitzakis, Emmanouil 2015
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Biased allelic expression in human primary fibroblast single cells Borel, Christelle; Ferreira Marinheiro, Pedro; Santoni, Federico; Delaneau, Olivier; ... Antonarakis, Stylianos 2015
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Population Variation and Genetic Control of Modular Chromatin Architecture in Humans Waszak, Sebastian M; Delaneau, Olivier; Gschwind, Andreas R; Kilpinen, Leena Helena; ... Dermitzakis, Emmanouil 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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Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data Waszak, Sebastian M; Kilpinen, Leena Helena; Gschwind, Andreas R; Orioli, Andrea; ... Deplancke, Bart 2014
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Disentangling human tolerance and resistance against HIV. Regoes, Roland R; McLaren, Paul J; Battegay, Manuel; Bernasconi, Enos; ... Fellay, Jacques 2014
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A chromosome-centric human proteome project (C-HPP) to characterize the sets of proteins encoded in chromosome 17 Liu, Suli; Im, Hogune; Bairoch, Amos Marc; Cristofanilli, Massimo; ... Hancock, William S 2013
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neXtProt: organizing protein knowledge in the context of human proteome projects Gaudet, Pascale; Argoud-puy, Ghislaine; Cusin, Isabelle; Duek, Paula Debora; ... Lane, Lydie 2013
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Mutations of DEPDC5 cause autosomal dominant focal epilepsies Ishida, Saeko; Picard, Fabienne; Rudolf, Gabrielle; Noé, Eric; ... Baulac, Stéphanie 2013
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Integrative annotation of variants from 1092 humans: application to cancer genomics Lappalainen, Tuuli Emilia; Dermitzakis, Emmanouil 2013
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Fine Mapping and Identification of BMI Loci in African Americans Ehret, Georg Benedikt 2013
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Genetic and epigenetic contribution to complex traits Kilpinen, Leena Helena; Dermitzakis, Emmanouil 2012
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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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Patterns of cis regulatory variation in diverse human populations Stranger, Barbara E; Montgomery, Stephen; Dima, Antigoni; Parts, Leopold; ... Dermitzakis, Emmanouil 2012
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Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population Bell, Jordana T; Tsai, Pei-Chien; Yang, Tsun-Po; Pidsley, Ruth; ... Deloukas, Panos 2012
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The Chromosome-Centric Human Proteome Project for cataloging proteins encoded in the genome Paik, Young-Ki; Jeong, Seul-Ki; Omenn, Gilbert S; Uhlen, Mathias; ... Hancock, William S 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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A systematic survey of loss-of-function variants in human protein-coding genes MacArthur, Daniel G; Montgomery, Stephen; Dermitzakis, Emmanouil 2012
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Analysis of in situ pre-mRNA targets of human splicing factor SF1 reveals a function in alternative splicing Corioni, Margherita; Antih, Nicolas; Tanackovic Abbas-Terki, Goranka; Zavolan, Mihaela; Kraemer, Angela 2011
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Genome-sequencing anniversary. Genome literacy Dermitzakis, Emmanouil 2011
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VPS35 mutations in Parkinson disease Vilariño-Güell, Carles; Wider, Christian; Ross, Owen A; Dachsel, Justus C; ... Farrer, Matthew J 2011
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A user's guide to the encyclopedia of DNA elements (ENCODE) ENCODE Project Consortium 2011
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Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes Strawbridge, Rona J 2011
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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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Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium Ganesh, Santhi K. 2009
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In vitro whole-genome analysis identifies a susceptibility locus for HIV-1 Loeuillet, Corinne; Deutsch, Samuel; Ciuffi, Angela; Robyr, Daniel; ... Telenti, Amalio 2008
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Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells Attanasio, Catia; Reymond, Alexandre; Humbert, Richard; Lyle, Robert; ... Stamatoyannopoulos, John A. 2008
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Ethical issues in governing biobanks: Global Perspectives Elger, Bernice Simone; Biller-Andorno, Nikola; Mauron, Alex; Capron, Alexander 2008
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Modifier effects between regulatory and protein-coding variation Dimas, Antigone S.; Stranger, Barbara E.; Beazley, Claude; Finn, Robert D.; ... Dermitzakis, Emmanouil 2008
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High-resolution mapping of expression-QTLs yields insight into human gene regulation Veyrieras, Jean-Baptiste; Kudaravalli, Sridhar; Kim, Su Yeon; Dermitzakis, Emmanouil; ... Pritchard, Jonathan K. 2008
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Efficient targeted transcript discovery via array-based normalization of RACE libraries Djebali, Sarah; Kapranov, Philipp; Foissac, Sylvain; Lagarde, Julien; ... Guigo, Roderic 2008
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The annotation of both human and mouse kinomes in UniProtKB/Swiss-Prot: one small step in manual annotation, one giant leap for full comprehension of genomes Braconi Quintaje, Silvia; Orchard, Sandra 2008
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Useful 'junk': Alu RNAs in the human transcriptome Hasler, Julien; Samuelsson, T; Strub, Katharina 2007
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Gene duplication: a drive for phenotypic diversity and cause of human disease Conrad, Bernard; Antonarakis, Stylianos 2007
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A whole-genome association study of major determinants for host control of HIV-1 Fellay, Jacques; Shianna, K. V.; Ge, Dongliang; Colombo, Sara; ... Goldstein, D. B. 2007
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Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 Lyle, Robert; Prandini, Paola; Osoegawa, Kazutoyo; ten Hallers, Boudewijn; ... Antonarakis, Stylianos 2007
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Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome Margulies, E. H.; Cooper, G. M.; Asimenos, George 2007
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Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability Beckmann, J. S.; Estivill, Xavier; Antonarakis, Stylianos 2007
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Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions Denoeud, France; Kapranov, Philipp; Ucla, Catherine; Frankish, Adam; ... Reymond, Alexandre 2007
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The implications of alternative splicing in the ENCODE protein complement Antonarakis, Stylianos; Reymond, Alexandre 2007
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Structured RNAs in the ENCODE selected regions of the human genome Washietl, Stefan; Pedersen, J. S.; Korbel, J. O.; Stocsits, Claudia; ... Stadler, P. F. 2007
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Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1 Naveed, Mohammed; Nath, S. K.; Gaines, Mathew; Al-Ali, M. T.; ... Radhakrishna, Uppala 2007
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EGASP: the human ENCODE Genome Annotation Assessment Project Guigo, Roderic; Flicek, Paul; Abril, J. F.; Reymond, Alexandre; ... Reese, M. G. 2006
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GENCODE: producing a reference annotation for ENCODE Harrow, Jennifer; Denoeud, France; Frankish, Adam; Reymond, Alexandre; ... Guigo, Roderic 2006
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Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34 Radhakrishna, Uppala; Ratnamala, Uppala; Gaines, Mathew; Beiraghi, Soraya; ... Nath, S. K. 2006
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Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes Castelo, Robert; Reymond, Alexandre; Wyss, Carine; Camara, Francisco; ... Eyras, Eduardo 2005
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Chromosome 21 and Down syndrome: the post-sequence era Antonarakis, Stylianos; Reymond, Alexandre; Lyle, Robert; Deutsch, Samuel; Dermitzakis, Emmanouil 2003
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Mutation nomenclature den Dunnen, J. T.; Antonarakis, Stylianos 2003
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A genome-wide survey of human pseudogenes Torrents, David; Suyama, Mikita; Zdobnov, Evgeny; Bork, Peer 2003
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Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia Lewis, C. M.; Blouin, Jean-Louis; Antonarakis, Stylianos 2003
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