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 TitleAuthors / EditorsDate
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A complete tool set for molecular QTL discovery and analysis Delaneau, Olivier; Ongen, Halit; Brown, Andrew Anand; Fort, Alexandre; ... Dermitzakis, Emmanouil 2017
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A genome-wide association study of testicular germ cell tumor Rapley, Elizabeth A.; Turnbull, Clare; Al Olama, Ali Amin; Dermitzakis, Emmanouil; ... Stratton, Michael R. 2009
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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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Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes Glastonbury, Craig A.; Viñuela, Ana; Buil Demur, Alfonso Alberto; Halldorsson, Gisli H.; ... Small, Kerrin S. 2016
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Age-dependent changes in mean and variance of gene expression across tissues in a twin cohort Vinuela Rodriguez, Ana; Brown, Andrew Anand; Buil Demur, Alfonso Alberto; Tsai, Pei-Chien; ... Small, Kerrin S 2018
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Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies Panousis, Nikolaos; Gutierrez Arcelus, Maria; Dermitzakis, Emmanouil; Lappalainen, Tuuli Emilia 2014
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Alternative Splicing QTLs in European and African Populations Ongen, Halit; Dermitzakis, Emmanouil 2015
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An immune response network associated with blood lipid levels Inouye, Michael; Silander, Kaisa; Hamalainen, Eija; Salomaa, Veikko; ... Peltonen, L. 2010
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Analysis of case-control association studies with known risk variants Zaitlen, Noah; Pasaniuc, Bogdan; Patterson, Nick; Pollack, Samuela; ... Price, Alkes L 2012
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Angiogenin and osteoprotegerin are type II muscle specific myokines protecting pancreatic beta-cells against proinflammatory cytokines Rutti Roch, Sabine; Dusaulcy, Rodolphe; Hansen, Jakob S.; Howald, Cédric; ... Bouzakri, Karim 2018
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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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Assessing allele-specific expression across multiple tissues from RNA-seq read data Pirinen, Matti; Lappalainen, Tuuli Emilia; Zaitlen, Noah A; Dermitzakis, Emmanouil; ... Rivas, Manuel A 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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BLUEPRINT to decode the epigenetic signature written in blood Adams, David; Antonarakis, Stylianos; Dermitzakis, Emmanouil 2012
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Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations Nica, A. C.; Montgomery, S. B.; Dimas, A. S.; Stranger, B. E.; ... Dermitzakis, Emmanouil 2010
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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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Cellular circadian period length inversely correlates with HbA1c levels in individuals with type 2 diabetes Sinturel, Flore; Makhlouf, Anne-Marie; Meyer, Patrick; Tran, Christel; ... Dibner, Charna 2019
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Cellular genomics for complex traits Dermitzakis, Emmanouil 2012
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Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes Loviglio, M N; Leleu, M; Männik, K; Passeggeri, M; ... Reymond, A 2017
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Chromosome 21 and down syndrome: from genomics to pathophysiology Antonarakis, Stylianos; Lyle, Robert; Dermitzakis, Emmanouil; Reymond, Alexandre; Deutsch, Samuel 2004
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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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Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation Tsaprouni, Loukia G; Yang, Tsun-Po; Bell, Jordana; Dick, Katherine J; ... Deloukas, Panos 2014
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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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Co-expression networks reveal the tissue-specific regulation of transcription and splicing Saha, Ashis; Kim, Yungil; Gewirtz, Ariel D.H.; Jo, Brian; ... Battle, Alexis 2017
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Common regulatory variation impacts gene expression in a cell type-dependent manner Dimas, Antigone S.; Deutsch, Samuel; Stranger, Barbara E.; Montgomery, Stephen; ... Antonarakis, Stylianos 2009
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Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment Dermitzakis, Emmanouil; Kirkness, Ewen; Schwarz, Scott; Birney, Ewan; ... Antonarakis, Stylianos 2004
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Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes Guigo, Roderic; Dermitzakis, Emmanouil; Agarwal, Pankaj; Ponting, C. P.; ... Brent, M. R. 2003
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Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains Adams, D. J.; Dermitzakis, Emmanouil; Cox, Tony; Smith, James; ... Bradley, Allan 2005
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Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer Kondelin, Johanna; Salokas, Kari; Saarinen, Lilli; Ovaska, Kristian; ... Aaltonen, Lauri A 2018
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Congruence of Additive and Non-Additive Effects on Gene Expression Estimated from Pedigree and SNP Data Powell, Joseph E.; Henders, Anjali K.; McRae, Allan F.; Kim, Jinhee; ... Visscher, Peter M. 2013
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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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Conserved non-genic sequences - an unexpected feature of mammalian genomes Dermitzakis, Emmanouil; Reymond, Alexandre; Antonarakis, Stylianos 2005
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Conserved noncoding sequences are selectively constrained and not mutation cold spots Drake, J. A.; Bird, Christine; Nemesh, James; Thomas, D. J.; ... Hirschhorn, J. N. 2006
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Contribution of allelic imbalance to colorectal cancer Palin, Kimmo; Pitkänen, Esa; Turunen, Mikko; Sahu, Biswajyoti; ... Aaltonen, Lauri A. 2018
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Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription Kilpinen, Leena Helena; Waszak, Sebastian M; Gschwind, Andreas R; Raghav, Sunil K; ... Dermitzakis, Emmanouil 2013
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Data analysis issues for allele-specific expression using Illumina's GoldenGate assay Ritchie, Matthew E.; Forrest, Matthew S.; Dimas, Antigone S.; Daelemans, Caroline; ... Tavare, Simon 2010
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Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing Stevant, Isabelle; Neirijnck, Yasmine; Borel, Christelle; Escoffier Breancon, Jessica; ... Nef, Serge 2018
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Dissecting Cell Lineage Specification and Sex Fate Determination in Gonadal Somatic Cells Using Single-Cell Transcriptomics Stevant, Isabelle; Kuhne, Françoise; Greenfield, Andy; Chaboissier, Marie-Christine; ... Nef, Serge 2019
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Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling Chen, Edwin; Beer, Philip A.; Godfrey, Anna L.; Ortmann, Christina A.; ... Green, Anthony R. 2010
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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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Epistatic selection between coding and regulatory variation in human evolution and disease Lappalainen, Tuuli Emilia; Montgomery, Stephen; Nica, Alexandra; Dermitzakis, Emmanouil 2011
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Estimating the causal tissues for complex traits and diseases Ongen, Halit; Brown, Andrew Anand; Delaneau, Olivier; Panousis, Nikolaos; ... Dermitzakis, Emmanouil 2017
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Evolutionary comparison provides evidence for pathogenicity of RMRP mutations Bonafe, Luisa; Dermitzakis, Emmanouil; Unger, Sheila; Greenberg, C. R.; ... Reymond, Alexandre 2005
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Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs) Dermitzakis, Emmanouil; Reymond, Alexandre; Scamuffa, Nathalie; Ucla, Catherine; ... Antonarakis, Stylianos 2003
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Evolutionary history of regulatory variation in human populations Lappalainen, Tuuli Emilia; Dermitzakis, Emmanouil 2010
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Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes Granell, Raquel; Henderson, A. John; Timpson, Nicholas; St. Pourcain, Beate; ... Sterne, Jonathan A.C. 2013
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Expression quantitative trait loci: present and future Nica, Alexandra; Dermitzakis, Emmanouil 2013
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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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Extent, causes, and consequences of small RNA expression variation in human adipose tissue Parts, Leopold; Hedman, Åsa K; Keildson, Sarah; Knights, Andrew J; ... Lindgren, Cecilia M 2012
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Fast and efficient QTL mapper for thousands of molecular phenotypes Ongen, Halit; Buil Demur, Alfonso Alberto; Brown, Andrew Anand; Dermitzakis, Emmanouil; Delaneau, Olivier 2016
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