ED
Dermitzakis, Emmanouil
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Multi-omics correlates of insulin resistance and circadian parameters mapped directly from human serum | EJN. European journal of neuroscience |  | 2024 | 74 | 88 | ||
| Regulation of HLA class I expression by non-coding gene variations | PLOS genetics | | 2022 | 167 | 82 | ||
| Contribution of schizophrenia polygenic burden to longitudinal phenotypic variance in 22q11.2 deletion syndrome | Molecular psychiatry | | 2022 | 243 | 136 | ||
| Specific transcriptomic signatures and dual regulation of steroidogenesis between fetal and adult mouse leydig cells | Frontiers in Cell and Developmental Biology | | 2021 | 205 | 178 | ||
| Gene regulation contributes to explain the impact of early life socioeconomic disadvantage on adult inflammatory levels in two cohort studies | Scientific reports | | 2021 | 250 | 190 | ||
| Ether lipids, sphingolipids and toxic 1-deoxyceramides as hallmarks for lean and obese type 2 diabetic patients | Acta Physiologica |  | 2021 | 394 | 3 | ||
| Quantification of the spread of SARS-CoV-2 variant B.1.1.7 in Switzerland | Epidemics | | 2021 | 368 | 98 | ||
| Single-cell transcriptomics reveal temporal dynamics of critical regulators of germ cell fate during mouse sex determination | FASEB Journal | | 2021 | 205 | 139 | ||
| Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D | Nature Communications | | 2020 | 340 | 182 | ||
| A brief history of human disease genetics | Nature | | 2020 | 72 | 97 | ||
| Chromatin three-dimensional interactions mediate genetic effects on gene expression | Science | | 2019 | 355 | 2 | ||
| Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: descriptive characteristics of the epidemiological studies within the IMI DIRECT Consortium | Diabetologia | | 2019 | 264 | 72 | ||
| Combined genetic and transcriptome analysis of patients with SLE: distinct, targetable signatures for susceptibility and severity | Annals of the Rheumatic Diseases | | 2019 | 445 | 113 | ||
| Accurate, scalable and integrative haplotype estimation | Nature Communications | | 2019 | 293 | 262 | ||
| Expression estimation and eQTL mapping for HLA genes with a personalized pipeline | PLOS Genetics | | 2019 | 238 | 136 | ||
| Cellular circadian period length inversely correlates with HbA1c levels in individuals with type 2 diabetes | Diabetologia | | 2019 | 519 | 5 | ||
| Socioeconomic position, lifestyle habits and biomarkers of epigenetic aging: a multi-cohort analysis | Aging | | 2019 | 209 | 424 | ||
| Dissecting Cell Lineage Specification and Sex Fate Determination in Gonadal Somatic Cells Using Single-Cell Transcriptomics | Cell Reports | | 2019 | 471 | 271 | ||
| MRPL53, a new candidate gene for orofacial clefting, identified using an eQTL approach | Journal of Dental Research | | 2018 | 330 | 0 | ||
| Angiogenin and osteoprotegerin are type II muscle specific myokines protecting pancreatic beta-cells against proinflammatory cytokines | Scientific Reports | | 2018 | 435 | 75 | ||
| Age-dependent changes in mean and variance of gene expression across tissues in a twin cohort | Human Molecular Genetics | | 2018 | 378 | 71 | ||
| Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer | EMBO Molecular Medicine | | 2018 | 384 | 62 | ||
| Transcriptomic analyses reveal rhythmic and CLOCK-driven pathways in human skeletal muscle | eLife | | 2018 | 584 | 207 | ||
| Contribution of allelic imbalance to colorectal cancer | Nature Communications | | 2018 | 381 | 190 | ||
| Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing | Cell Reports | | 2018 | 449 | 248 | ||
| Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation | Nature Genetics | | 2018 | 402 | 0 | ||
| Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types | Genome Biology | | 2017 | 406 | 246 | ||
| The impact of rare variation on gene expression across tissues | Nature | | 2017 | 442 | 187 | ||
| The effect of genetic variation on promoter usage and enhancer activity | Nature Communications | | 2017 | 368 | 163 | ||
| Co-expression networks reveal the tissue-specific regulation of transcription and splicing | Genome Research | | 2017 | 448 | 223 | ||
| Estimating the causal tissues for complex traits and diseases | Nature Genetics | | 2017 | 535 | 1,034 | ||
| Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues | Nature Genetics | | 2017 | 428 | 768 | ||
| MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets | Bioinformatics | | 2017 | 433 | 110 | ||
| Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance | Nature Genetics | 2017 | 411 | 0 | |||
| Dynamic landscape and regulation of RNA editing in mammals | Nature | | 2017 | 430 | 0 | ||
| Molecular-Subtype-Specific Biomarkers Improve Prediction of Prognosis in Colorectal Cancer | Cell Reports | | 2017 | 446 | 231 | ||
| Genetic correlations reveal the shared genetic architecture of transcription in human peripheral blood | Nature Communications | | 2017 | 369 | 187 | ||
| Time-dependent genetic effects on gene expression implicate aging processes | Genome Research | | 2017 | 391 | 163 | ||
| Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes | Molecular Psychiatry | | 2017 | 389 | 528 | ||
| The genomic landscape of human cellular circadian variation points to a novel role for the signalosome | eLife | | 2017 | 437 | 221 | ||
| Inference and quantification of peptidoforms in large sample cohorts by SWATH-MS | Nature Biotechnology | | 2017 | 405 | 415 | ||
| Genetic effects on gene expression across human tissues | Nature | | 2017 | 469 | 195 | ||
| A complete tool set for molecular QTL discovery and analysis | Nature Communications | | 2017 | 442 | 272 | ||
| The non-coding variant rs1800734 enhances DCLK3 expression through long-range interaction and promotes colorectal cancer progression | Nature Communications | | 2017 | 397 | 213 | ||
| Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis | Genome Research | | 2017 | 383 | 0 | ||
| Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus | Human Molecular Genetics | | 2017 | 416 | 212 | ||
| Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis | Human molecular genetics | | 2016 | 526 | 219 | ||
| Sequential transcriptional waves direct the differentiation of newborn neurons in the mouse neocortex | Science | 2016 | 989 | 0 | |||
| SNHG16 is regulated by the Wnt pathway in colorectal cancer and affects genes involved in lipid metabolism | Molecular Oncology | | 2016 | 320 | 185 | ||
| Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells | Cell | | 2016 | 546 | 598 | ||
| IL-13 improves beta-cell survival and protects against IL-1beta-induced beta-cell death | Molecular metabolism | | 2016 | 547 | 153 | ||
| Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes | American Journal of Human Genetics | | 2016 | 411 | 255 | ||
| Fast and efficient QTL mapper for thousands of molecular phenotypes | Bioinformatics | | 2016 | 536 | 279 | ||
| Alternative Splicing QTLs in European and African Populations | American journal of human genetics | | 2015 | 515 | 187 | ||
| Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans | Science | 2015 | 514 | 0 | |||
| Impaired Cell Cycle Regulation in a Natural Equine Model of Asthma | PloS one | | 2015 | 492 | 269 | ||
| Biased allelic expression in human primary fibroblast single cells | American journal of human genetics |  | 2015 | 605 | 0 | ||
| Short Term Exposure of Beta Cells to Low Concentrations of Interleukin-1β Improves Insulin Secretion through Focal Adhesion and Actin Remodeling and Regulation of Gene Expression | The Journal of biological chemistry | | 2015 | 567 | 2 | ||
| Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors | PLOS genetics | | 2015 | 496 | 209 | ||
| Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases | Scientific reports | | 2015 | 533 | 299 | ||
| Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes | Genomics | | 2015 | 639 | 4 | ||
| Population Variation and Genetic Control of Modular Chromatin Architecture in Humans | Cell | | 2015 | 515 | 0 | ||
| Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing | PLOS genetics | | 2015 | 719 | 245 | ||
| Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins | Nature genetics | | 2015 | 545 | 0 | ||
| Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome | Science | | 2015 | 533 | 1 | ||
| Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes | Data in brief | | 2015 | 689 | 284 | ||
| Assessing allele-specific expression across multiple tissues from RNA-seq read data | Bioinformatics | | 2015 | 543 | 1 | ||
| Human genomics. The human transcriptome across tissues and individuals | Science | | 2015 | 415 | 0 | ||
| The transcriptome of equine peripheral blood mononuclear cells | PloS one | | 2015 | 492 | 233 | ||
| Quantitative variability of 342 plasma proteins in a human twin population | Molecular systems biology | | 2015 | 548 | 184 | ||
| Fractalkine (CX3CL1), a new factor protecting β-cells against TNFα | Molecular metabolism | | 2014 | 680 | 394 | ||
| Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31 | Investigative ophthalmology & visual science | | 2014 | 461 | 222 | ||
| Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in Humans | American journal of human genetics | | 2014 | 662 | 1 | ||
| Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants | PloS one | | 2014 | 646 | 299 | ||
| Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data | Bioinformatics | | 2014 | 515 | 0 | ||
| Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies | GenomeBiology.com | | 2014 | 539 | 221 | ||
| Putative cis-regulatory drivers in colorectal cancer | Nature | | 2014 | 514 | 0 | ||
| Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation | Epigenetics | | 2014 | 560 | 0 | ||
| Genetic interactions affecting human gene expression identified by variance association mapping | eLife | | 2014 | 511 | 412 | ||
| Cis and trans effects of human genomic variants on gene expression | PLOS genetics | | 2014 | 570 | 228 | ||
| High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms | PLOS genetics | | 2014 | 541 | 189 | ||
| Non-CpG island promoter hypomethylation and miR-149 regulate the expression of SRPX2 in colorectal cancer | International journal of cancer | | 2013 | 445 | 0 | ||
| Immune response is a personal matter | eLife | | 2013 | 478 | 0 | ||
| Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits | PLOS genetics | | 2013 | 520 | 258 | ||
| Cell-type, allelic and genetic signatures in the human pancreatic beta cell transcriptome | Genome research | | 2013 | 707 | 485 | ||
| Passive and active DNA methylation and the interplay with genetic variation in gene regulation | eLife | | 2013 | 770 | 496 | ||
| Expression quantitative trait loci: present and future | Philosophical transactions - Royal Society. Biological sciences | | 2013 | 494 | 0 | ||
| Transcriptome and genome sequencing uncovers functional variation in humans | Nature | | 2013 | 718 | 3 | ||
| Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes | Journal of allergy and clinical immunology | | 2013 | 448 | 0 | ||
| Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription | Science | | 2013 | 542 | 1 | ||
| Congruence of Additive and Non-Additive Effects on Gene Expression Estimated from Pedigree and SNP Data | PLOS genetics | | 2013 | 508 | 298 | ||
| Gene expression changes with age in skin, adipose tissue, blood and brain | GenomeBiology.com | | 2013 | 587 | 280 | ||
| Integrative annotation of variants from 1092 humans: application to cancer genomics | Science | | 2013 | 473 | 1 | ||
| Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories | Nature biotechnology | | 2013 | 630 | 1 | ||
| Genetic and epigenetic regulation of human lincRNA gene expression | American journal of human genetics | | 2013 | 669 | 0 | ||
| Mapping cis- and trans-regulatory effects across multiple tissues in twins | Nature genetics | | 2012 | 679 | 979 | ||
| Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis | Nature genetics | | 2012 | 693 | 1,379 | ||
| Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB | Human mutation | | 2012 | 590 | 0 | ||
| BLUEPRINT to decode the epigenetic signature written in blood | Nature biotechnology | | 2012 | 531 | 1 | ||
| A systematic survey of loss-of-function variants in human protein-coding genes | Science | | 2012 | 1,097 | 953 | ||
| Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent | Genome research | | 2012 | 674 | 523 | ||
| Genotype-based test in mapping cis-regulatory variants from allele-specific expression data | PloS one | | 2012 | 681 | 379 | ||
| Patterns of cis regulatory variation in diverse human populations | PLOS genetics | | 2012 | 647 | 258 | ||
| Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population | PLOS genetics | | 2012 | 722 | 368 | ||
| Insights into hominid evolution from the gorilla genome sequence | Nature | | 2012 | 773 | 988 | ||
| Cellular genomics for complex traits | Nature reviews. Genetics | | 2012 | 615 | 1 | ||
| Analysis of case-control association studies with known risk variants | Bioinformatics | | 2012 | 647 | 845 | ||
| Extent, causes, and consequences of small RNA expression variation in human adipose tissue | PLOS genetics | | 2012 | 685 | 374 | ||
| Genomic variation and its impact on gene expression in Drosophila melanogaster | PLOS genetics | | 2012 | 659 | 284 | ||
| Extensive natural variation for cellular hydrogen peroxide release is genetically controlled | PloS one | | 2012 | 754 | 423 | ||
| Sex-biased genetic effects on gene regulation in humans | Genome research | | 2012 | 564 | 342 | ||
| Genetic and epigenetic contribution to complex traits | Human molecular genetics | | 2012 | 578 | 303 | ||
| An integrated map of genetic variation from 1,092 human genomes | Nature | | 2012 | 1,048 | 713 | ||
| The Brisbane Systems Genetics Study: genetical genomics meets complex trait genetics | PloS one | | 2012 | 686 | 398 | ||
| Rare and common regulatory variation in population-scale sequenced human genomes | PLOS genetics | | 2011 | 670 | 299 | ||
| Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report | Genetics in medicine | | 2011 | 652 | 2 | ||
| Genome-wide association study identifies a common variant associated with risk of endometrial cancer | Nature genetics | | 2011 | 757 | 980 | ||
| Genome-sequencing anniversary. Genome literacy | Science | | 2011 | 489 | 479 | ||
| Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts | Genome research | | 2011 | 727 | 340 | ||
| Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes | Nature genetics | | 2011 | 801 | 985 | ||
| From expression QTLs to personalized transcriptomics | Nature reviews. Genetics | | 2011 | 568 | 1 | ||
| The architecture of gene regulatory variation across multiple human tissues: the MuTHER study | PLOS genetics | | 2011 | 663 | 301 | ||
| Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes | Diabetes | | 2011 | 680 | 1,501 | ||
| Epistatic selection between coding and regulatory variation in human evolution and disease | American journal of human genetics | | 2011 | 592 | 297 | ||
| A map of human genome variation from population-scale sequencing | Nature | | 2010 | 1,024 | 1,401 | ||
| Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33 | Nature genetics | | 2010 | 619 | 2 | ||
| Transcriptome genetics using second generation sequencing in a Caucasian population | Nature | | 2010 | 634 | 0 | ||
| Integrating common and rare genetic variation in diverse human populations | Nature | | 2010 | 734 | 410 | ||
| Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations | PLOS genetics | | 2010 | 570 | 1,055 | ||
| High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta | BMC genetics | | 2010 | 645 | 406 | ||
| Evolutionary history of regulatory variation in human populations | Human molecular genetics | | 2010 | 588 | 1 | ||
| Long- and short-term selective forces on malaria parasite genomes | PLOS genetics | | 2010 | 611 | 498 | ||
| Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1 | Nature genetics | | 2010 | 626 | 691 | ||
| Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease | Human molecular genetics | | 2010 | 589 | 0 | ||
| Data analysis issues for allele-specific expression using Illumina's GoldenGate assay | BMC bioinformatics | | 2010 | 658 | 332 | ||
| An immune response network associated with blood lipid levels | PLOS genetics | | 2010 | 768 | 711 | ||
| Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies | Bioinformatics | | 2010 | 682 | 0 | ||
| Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling | Cancer cell | | 2010 | 649 | 692 | ||
| The resolution of the genetics of gene expression | Human molecular genetics | | 2009 | 567 | 3 | ||
| Common regulatory variation impacts gene expression in a cell type-dependent manner | Science | | 2009 | 678 | 2 | ||
| Genetic variation of regulatory systems | Current opinion in genetics & development | | 2009 | 557 | 0 | ||
| Genetics. Life after GWA studies | Science | | 2009 | 685 | 0 | ||
| A genome-wide association study of testicular germ cell tumor | Nature genetics | | 2009 | 629 | 0 | ||
| Gene expression levels are a target of recent natural selection in the human genome | Molecular biology and evolution | | 2009 | 597 | 0 | ||
| Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size | PLOS genetics | | 2009 | 1,084 | 359 | ||
| Using gene expression to investigate the genetic basis of complex disorders | Human molecular genetics | | 2008 | 573 | 0 | ||
| From gene expression to disease risk | Nature genetics | | 2008 | 594 | 1 | ||
| Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells | GenomeBiology.com | | 2008 | 655 | 420 | ||
| Regulatory variation and evolution: implications for disease | Advances in genetics | 2008 | 480 | 0 | |||
| High-resolution mapping of expression-QTLs yields insight into human gene regulation | PLOS genetics | | 2008 | 647 | 288 | ||
| Large-scale population study of human cell lines indicates that dosage compensation is virtually complete | PLOS genetics | | 2008 | 622 | 281 | ||
| The functional impact of structural variation in humans | Trends in genetics | | 2008 | 574 | 0 | ||
| Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines | PLOS genetics | | 2008 | 531 | 341 | ||
| Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase | European journal of human genetics | | 2008 | 631 | 0 | ||
| Modifier effects between regulatory and protein-coding variation | PLOS genetics | | 2008 | 591 | 295 | ||
| Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project | Nature | | 2007 | 707 | 651 | ||
| Conserved noncoding sequences are selectively constrained and not mutation cold spots | Nature genetics | | 2006 | 677 | 0 | ||
| Tandem chimerism as a means to increase protein complexity in the human genome | Genome research | | 2006 | 612 | 0 | ||
| Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes | Human molecular genetics | | 2005 | 598 | 0 | ||
| Evolutionary comparison provides evidence for pathogenicity of RMRP mutations | PLOS genetics | | 2005 | 635 | 467 | ||
| Conserved non-genic sequences - an unexpected feature of mammalian genomes | Nature reviews. Genetics | | 2005 | 565 | 0 | ||
| Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains | Nature genetics | | 2005 | 604 | 0 | ||
| Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites | American journal of human genetics | | 2004 | 575 | 0 | ||
| Chromosome 21 and down syndrome: from genomics to pathophysiology | Nature reviews. Genetics | | 2004 | 787 | 0 | ||
| 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 | Genome research | | 2004 | 607 | 0 | ||
| Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes | Proceedings of the National Academy of Sciences of the United States of America | | 2003 | 675 | 0 | ||
| Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs) | Science | | 2003 | 641 | 0 | ||
| Chromosome 21 and Down syndrome: the post-sequence era | Cold Spring Harbor Symposia on Quantitative Biology | 2003 | 564 | 0 | |||
| Numerous potentially functional but non-genic conserved sequences on human chromosome 21 | Nature | | 2002 | 604 | 0 | ||
| Initial sequencing and comparative analysis of the mouse genome | Nature | | 2002 | 800 | 6 | ||
| Human chromosome 21 gene expression atlas in the mouse | Nature | | 2002 | 620 | 0 |
