Emmanouil Dermitzakis | Academic Influence

Why Is Emmanouil Dermitzakis Influential?

According to Wikipedia, Emmanouil Theophilos Dermitzakis is a Greek human geneticist and professor in the Department of Genetic Medicine and Development at the University of Geneva, where he is also Director of the Health 2030 Genome Center. He is an ISI Highly Cited Researcher and an elected member of the European Molecular Biology Organization. He is a member of the Swiss Institute of Bioinformatics, where his research group is focused on the genetics and genomics of complex traits in humans. He has joined GlaxoSmithKline as Vice President, Computational Biology in R&D.

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Emmanouil Dermitzakis's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

The Genotype-Tissue Expression (GTEx) project (2013) (6030)
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project (2007) (5196)
Initial sequencing and comparative analysis of the mouse genome. (2002) (4609)
A second generation human haplotype map of over 3.1 million SNPs (2007) (4567)
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans (2015) (3904)
Genetic effects on gene expression across human tissues (2017) (2841)
Integrating common and rare genetic variation in diverse human populations (2010) (2731)
The ENCODE (ENCyclopedia Of DNA Elements) Project (2004) (2194)
Transcriptome and genome sequencing uncovers functional variation in humans (2013) (1758)
Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes (2007) (1734)
The GTEx Consortium atlas of genetic regulatory effects across human tissues (2019) (1609)
Common variants near MC4R are associated with fat mass, weight and risk of obesity (2008) (1307)
Population genomics of human gene expression (2007) (1203)
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes (2012) (1127)
The human transcriptome across tissues and individuals (2015) (1036)
Transcriptome genetics using second generation sequencing in a Caucasian population (2010) (875)
Common Regulatory Variation Impacts Gene Expression in a Cell Type–Dependent Manner (2009) (790)
Mapping cis- and trans-regulatory effects across multiple tissues in twins (2012) (754)
Insights into hominid evolution from the gorilla genome sequence (2012) (670)
Epigenome-Wide Scans Identify Differentially Methylated Regions for Age and Age-Related Phenotypes in a Healthy Ageing Population (2012) (649)
Chromosome 21 and Down syndrome: from genomics to pathophysiology (2004) (618)
High-Resolution Mapping of Expression-QTLs Yields Insight into Human Gene Regulation (2008) (573)
Genome-Wide Associations of Gene Expression Variation in Humans (2005) (552)
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells (2016) (475)
Patterns of Cis Regulatory Variation in Diverse Human Populations (2012) (470)
The Architecture of Gene Regulatory Variation across Multiple Human Tissues: The MuTHER Study (2011) (460)
Evolution of transcription factor binding sites in Mammalian gene regulatory regions: conservation and turnover. (2002) (451)
Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis (2018) (451)
Candidate Causal Regulatory Effects by Integration of Expression QTLs with Complex Trait Genetic Associations (2010) (431)
Passive and active DNA methylation and the interplay with genetic variation in gene regulation (2013) (394)
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33 (2010) (391)
Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance (2016) (386)
Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics (2013) (366)
Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits (2013) (365)
Expression quantitative trait loci: present and future (2013) (356)
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1 (2010) (350)
Fast and efficient QTL mapper for thousands of molecular phenotypes (2015) (346)
Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements. (2013) (341)
Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription (2013) (338)
META-ANALYSIS OF GENOME-WIDE ASSOCIATION STUDIES IDENTIFIES THREE NEW RISK LOCI FOR ATOPIC DERMATITIS (2011) (325)
Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies (2010) (325)
A genome-wide association study of testicular germ cell tumor (2009) (322)
BLUEPRINT to decode the epigenetic signature written in blood (2012) (320)
Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation (2018) (319)
Identification of an imprinted master trans-regulator at the KLF14 locus related to multiple metabolic phenotypes (2011) (316)
Conserved non-genic sequences — an unexpected feature of mammalian genomes (2005) (295)
A brief history of human disease genetics (2020) (288)
Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation (2014) (287)
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression (2021) (284)
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report (2011) (271)
Quantitative variability of 342 plasma proteins in a human twin population (2015) (269)
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. (2004) (257)
Numerous potentially functional but non-genic conserved sequences on human chromosome 21 (2002) (256)
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories (2013) (254)
Meta-Analysis of Genome-Wide Scans for Human Adult Stature Identifies Novel Loci and Associations with Measures of Skeletal Frame Size (2009) (247)
Conserved noncoding sequences are selectively constrained and not mutation cold spots (2006) (245)
Corrigendum: Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases (2016) (242)
Gene expression changes with age in skin, adipose tissue, blood and brain (2013) (237)
Sequential transcriptional waves direct the differentiation of newborn neurons in the mouse neocortex (2016) (235)
Accurate, scalable and integrative haplotype estimation (2019) (230)
Effect of predicted protein-truncating genetic variants on the human transcriptome (2015) (226)
Human chromosome 21 gene expression atlas in the mouse (2002) (224)
The impact of sex on gene expression across human tissues (2020) (220)
Genetic Analysis of Human Traits In Vitro: Drug Response and Gene Expression in Lymphoblastoid Cell Lines (2008) (215)
Tandem chimerism as a means to increase protein complexity in the human genome. (2005) (210)
Evolutionary Discrimination of Mammalian Conserved Non-Genic Sequences (CNGs) (2003) (210)
Genome variation and evolution of the malaria parasite Plasmodium falciparum (2007) (202)
Genetic evidence of assortative mating in humans (2017) (199)
Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes (2011) (197)
The impact of rare variation on gene expression across tissues (2016) (197)
Population Variation and Genetic Control of Modular Chromatin Architecture in Humans (2015) (192)
The functional impact of structural variation in humans. (2008) (184)
Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins (2014) (183)
Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing (2015) (180)
A complete tool set for molecular QTL discovery and analysis (2016) (180)
Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling. (2010) (172)
Fast-evolving noncoding sequences in the human genome (2007) (170)
Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases (2015) (167)
Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome (2013) (163)
Cell type–specific genetic regulation of gene expression across human tissues (2019) (161)
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 (2015) (159)
From expression QTLs to personalized transcriptomics (2011) (158)
An Immune Response Network Associated with Blood Lipid Levels (2010) (148)
Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization (2007) (147)
SNHG16 is regulated by the Wnt pathway in colorectal cancer and affects genes involved in lipid metabolism (2016) (146)
Estimating the causal tissues for complex traits and diseases (2016) (146)
A Quantitative Proteome Map of the Human Body (2019) (143)
Genome-wide association study identifies a common variant associated with risk of endometrial cancer (2011) (142)
Large-Scale Population Study of Human Cell Lines Indicates that Dosage Compensation Is Virtually Complete (2007) (138)
Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes (2003) (131)
Putative cis-regulatory drivers in colorectal cancer (2014) (128)
Chromatin three-dimensional interactions mediate genetic effects on gene expression (2019) (124)
Genetic interactions affecting human gene expression identified by variance association mapping (2014) (122)
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes. (2005) (118)
Cis and Trans Effects of Human Genomic Variants on Gene Expression (2014) (118)
Genomic Variation and Its Impact on Gene Expression in Drosophila melanogaster (2012) (113)
Inference and quantification of peptidoforms in large sample cohorts by SWATH-MS (2017) (112)
Using gene expression to investigate the genetic basis of complex disorders. (2008) (112)
Biased allelic expression in human primary fibroblast single cells. (2015) (110)
Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease (2010) (108)
Socioeconomic position, lifestyle habits and biomarkers of epigenetic aging: a multi-cohort analysis (2019) (106)
Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing. (2018) (103)
Rates of SARS-CoV-2 transmission and vaccination impact the fate of vaccine-resistant strains (2021) (99)
Rare and Common Regulatory Variation in Population-Scale Sequenced Human Genomes (2011) (97)
Gene Expression Levels Are a Target of Recent Natural Selection in the Human Genome (2008) (97)
The Brisbane Systems Genetics Study: Genetical Genomics Meets Complex Trait Genetics (2012) (96)
Dissecting Cell Lineage Specification and Sex Fate Determination in Gonadal Somatic Cells Using Single-Cell Transcriptomics. (2019) (93)
Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis. (2016) (92)
Differential selection after duplication in mammalian developmental genes. (2001) (91)
From gene expression to disease risk (2008) (89)
Sex-biased genetic effects on gene regulation in humans (2012) (87)
Congruence of Additive and Non-Additive Effects on Gene Expression Estimated from Pedigree and SNP Data (2013) (86)
Tracing the evolutionary history of Drosophila regulatory regions with models that identify transcription factor binding sites. (2003) (86)
NONTRANSITIVITY OF SPERM PRECEDENCE IN DROSOPHILA (2000) (86)
Assessing allele-specific expression across multiple tissues from RNA-seq read data (2015) (80)
Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent. (2012) (79)
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. (2004) (78)
Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues (2016) (77)
Non‐CpG island promoter hypomethylation and miR‐149 regulate the expression of SRPX2 in colorectal cancer (2013) (74)
Non-Mendelian segregation of sex chromosomes in heterospecific Drosophila males. (2000) (74)
Combined genetic and transcriptome analysis of patients with SLE: distinct, targetable signatures for susceptibility and severity (2019) (73)
Local genetic effects on gene expression across 44 human tissues (2016) (72)
Epistatic selection between coding and regulatory variation in human evolution and disease. (2011) (71)
Transcriptomic analyses reveal rhythmic and CLOCK-driven pathways in human skeletal muscle (2018) (70)
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1 q 41 , 3 q 26 . 2 , 12 q 13 . 13 and 20 q 13 (2010) (70)
High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta (2010) (70)
Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes. (2013) (69)
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts. (2011) (68)
Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains (2005) (67)
Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants (2015) (66)
High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms (2014) (66)
Genetic and epigenetic regulation of human lincRNA gene expression. (2013) (65)
Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D (2020) (65)
Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies (2014) (65)
Age-dependent changes in mean and variance of gene expression across tissues in a twin cohort (2016) (64)
Genome-wide association study of migraine implicates a common susceptibility variant on 8 q 22 . 1 (2010) (64)
Molecular-Subtype-Specific Biomarkers Improve Prediction of Prognosis in Colorectal Cancer. (2017) (63)
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes (2016) (63)
Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations (2005) (62)
Genetic and epigenetic contribution to complex traits. (2012) (62)
Corrigendum: Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes (2011) (60)
Characterization of six polymorphic microsatellite markers in gilthead seabream, Sparus aurata (Linnaeus 1758). (1999) (59)
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability (2020) (58)
Functional variation and evolution of non-coding DNA. (2006) (55)
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease (2021) (54)
Alternative Splicing QTLs in European and African Populations (2015) (51)
Expression estimation and eQTL mapping for HLA genes with a personalized pipeline (2018) (50)
Extent, Causes, and Consequences of Small RNA Expression Variation in Human Adipose Tissue (2012) (49)
Genetic variation in human gene expression (2006) (48)
Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase (2008) (47)
The non-coding variant rs1800734 enhances DCLK3 expression through long-range interaction and promotes colorectal cancer progression (2017) (44)
The effect of genetic variation on promoter usage and enhancer activity (2017) (43)
Analysis of case-control association studies with known risk variants (2012) (43)
Cellular genomics for complex traits (2012) (43)
Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus (2017) (43)
Predicting and elucidating the etiology of fatty liver disease: A machine learning modeling and validation study in the IMI DIRECT cohorts (2020) (40)
Expression of Phosphofructokinase in Skeletal Muscle Is Influenced by Genetic Variation and Associated With Insulin Sensitivity (2014) (39)
Gene age predicts the strength of purifying selection acting on gene expression variation in humans. (2014) (37)
Life After GWA Studies (2009) (37)
Modifier Effects between Regulatory and Protein-Coding Variation (2008) (37)
Tandem RNA Chimeras Contribute to Transcriptome Diversity in Human Population and Are Associated with Intronic Genetic Variants (2014) (31)
Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation (2013) (30)
Tandem repeat sequence variation as causative Cis‐eQTLs for protein‐coding gene expression variation: The case of CSTB (2012) (30)
The resolution of the genetics of gene expression. (2009) (29)
Quantification of the spread of SARS-CoV-2 variant B.1.1.7 in Switzerland (2021) (29)
Time-dependent genetic effects on gene expression implicate aging processes. (2017) (29)
MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets (2017) (28)
Contribution of allelic imbalance to colorectal cancer (2018) (27)
The genetics of regulatory variation in the human genome (2005) (27)
From DNA to RNA to disease and back: The 'central dogma' of regulatory disease variation (2006) (26)
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 (2019) (26)
Fractalkine (CX3CL1), a new factor protecting β-cells against TNFα (2014) (26)
Negative covariance suggests mutation bias in a two-locus microsatellite system in the fish Sparus aurata. (1998) (25)
Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. (2014) (23)
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing (2016) (22)
Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells (2008) (22)
Single cell transcriptomics reveal temporal dynamics of critical regulators of germ cell fate during mouse sex determination (2019) (22)
Impaired Cell Cycle Regulation in a Natural Equine Model of Asthma (2015) (22)
Long- and Short-Term Selective Forces on Malaria Parasite Genomes (2010) (22)
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* (2015) (21)
Angiogenin and Osteoprotegerin are type II muscle specific myokines protecting pancreatic beta-cells against proinflammatory cytokines (2018) (21)
Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes (2016) (21)
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics (2018) (21)
IL-13 improves beta-cell survival and protects against IL-1beta-induced beta-cell death (2015) (20)
Comparison of genetic variability and parentage in different ploidy classes of the Japanese oyster Crassostrea gigas. (2000) (19)
The Transcriptome of Equine Peripheral Blood Mononuclear Cells (2015) (18)
Influence of genetic variants on gene expression in human pancreatic islets – implications for type 2 diabetes (2019) (17)
MethCORR modelling of methylomes from formalin-fixed paraffin-embedded tissue enables characterization and prognostication of colorectal cancer (2020) (17)
Ether lipids, sphingolipids and toxic 1‐deoxyceramides as hallmarks for lean and obese type 2 diabetic patients (2020) (17)
Genetic variation of regulatory systems. (2009) (16)
Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease (2020) (14)
Single‐cell transcriptomics reveal temporal dynamics of critical regulators of germ cell fate during mouse sex determination (2021) (13)
Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010) (13)
Evolutionary history of regulatory variation in human populations. (2010) (13)
The genomic landscape of human cellular circadian variation points to a novel role for the signalosome (2017) (13)
High-fat diet impacts more changes in beta-cell compared to alpha-cell transcriptome (2019) (13)
HbO-Arab mutation originated in the Pomak population of Greek Thrace. (2005) (12)
Processes Underlying Glycemic Deterioration in Type 2 Diabetes: An IMI DIRECT Study (2020) (11)
Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes. (2015) (11)
Genetic correlations reveal the shared genetic architecture of transcription in human peripheral blood (2017) (11)
Distant regulatory effects of genetic variation in multiple human tissues (2016) (11)
The molecular basis, genetic control and pleiotropic effects of local gene co-expression (2020) (11)
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. (2015) (10)
Cellular circadian period length inversely correlates with HbA1c levels in individuals with type 2 diabetes (2019) (10)
Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data (2014) (10)
A haplotype map of the human genome The International HapMap Consortium (2005) (10)
Specific Transcriptomic Signatures and Dual Regulation of Steroidogenesis Between Fetal and Adult Mouse Leydig Cells (2021) (10)
Profiles of Glucose Metabolism in Different Prediabetes Phenotypes, Classified by Fasting Glycemia, 2-Hour OGTT, Glycated Hemoglobin, and 1-Hour OGTT: An IMI DIRECT Study (2021) (9)
MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach (2018) (9)
Genotype-Based Test in Mapping Cis-Regulatory Variants from Allele-Specific Expression Data (2012) (9)
Intra- and inter-chromosomal chromatin interactions mediate genetic effects on regulatory networks (2017) (9)
High-resolution mapping of expression-QTLs yields insight into human gene regulation . Supplementary Methods (2008) (9)
Erratum: Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes (Nature Genetics (2011) 43 (561-564)) (2011) (9)
Quantifying the degree of sharing of genetic and non-genetic causes of gene expression variability across four tissues (2016) (8)
Gene regulation contributes to explain the impact of early life socioeconomic disadvantage on adult inflammatory levels in two cohort studies (2021) (8)
Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer (2018) (8)
The role of physical activity in metabolic homeostasis before and after the onset of type 2 diabetes: an IMI DIRECT study (2020) (8)
Genetic Landscape of the ACE2 Coronavirus Receptor (2022) (8)
SARS-CoV-2 transmission, vaccination rate and the fate of resistant strains (2021) (7)
Whole blood co-expression modules associate with metabolic traits and type 2 diabetes: an IMI-DIRECT study (2020) (6)
Extensive fragmentation and re-organization of transcription in Systemic Lupus Erythematosus (2020) (5)
Deciphering cell lineage specification during male sex determination with single-cell RNA sequencing (2017) (5)
Cross-species transcriptome analysis for early detection and specific therapeutic targeting of human lupus nephritis (2022) (5)
Erratum: Global analysis of dna methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements ((Journal of Human Genetics (2013) 93 (876-890)) (2013) (5)
Data analysis issues for allele-specific expression using Illumina's GoldenGate assay (2010) (4)
Extensive Natural Variation for Cellular Hydrogen Peroxide Release Is Genetically Controlled (2012) (4)
Integrative haplotype estimation with sub-linear complexity (2018) (4)
Single-cell transcriptomics of the mouse gonadal soma reveals the establishment of sexual dimorphism in distinct cell lineages (2018) (4)
Integrated GWAS and Gene Expression Suggest ORM1 as a Potential Regulator of Plasma Levels of Cell-Free DNA and Thrombosis Risk (2022) (4)
Trisomic Phase Inference (2002) (4)
Alternative splicing QTLs in European and African populations using Altrans, a novel method for splice junction quantification (2015) (4)
Needed for completion of the human genome: hypothesis driven experiments and biologically realistic mathematical models (2004) (3)
Supplementary Material 5 (2014) (3)
Supplementary Material 6 (2014) (3)
Genetic analysis of blood molecular phenotypes reveals regulatory networks affecting complex traits: a DIRECT study. (2021) (3)
Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes (2015) (3)
Title : Williams-Beuren syndrome TRIM 50 encodes an E 3 ubiquitin ligase (3)
Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: an overview of the data from the epidemiological studies within the IMI DIRECT Consortium (2018) (3)
Regulation of HLA class I expression by non-coding gene variations (2022) (3)
Supplementary Material 7 (2014) (3)
Stranger , Variation on Gene Expression Phenotypes Relative Impact of Nucleotide and Copy Number (2007) (3)
Supplementary Material 3 (2015) (3)
Regulatory variation and evolution: implications for disease. (2008) (3)
Longitudinal multi-omics analysis identifies early blood-based predictors of anti-TNF therapy response in inflammatory bowel disease (2022) (2)
Genome Literacy (2011) (2)
Assessing allele specific expression across multiple tissues from RNA-seq read data (2014) (2)
PS2:38 Comparative tissue transcriptome analysis by next-generation sequencing reveals novel pathways that characterise genetic susceptibility and developmental biology in systemic lupus erythematosus (sle) (2018) (2)
Variation on Gene Expression Phenotypes Relative Impact of Nucleotide and Copy (2007) (2)
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency (2022) (2)
Publisher Correction: MethCORR modelling of methylomes from formalin-fixed paraffin-embedded tissue enables characterization and prognostication of colorectal cancer (2020) (2)
An anti-influenza combined therapy assessed by single cell RNA-sequencing (2022) (2)
Correction: Corrigendum: Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance (2017) (2)
Chromosome 21 and Down syndrome: the post-sequence era. (2003) (2)
Gene expression changes with age in skin, adipose tissue, blood and brain (2013) (2)
Gene regulation contributes to explain the impact of early life socioeconomic disadvantage on adult inflammatory levels in two European cohort studies (2020) (1)
Identification and analysis of functional elements in 1 % of the human genome by the ENCODE pilot project The ENCODE Project Consortium * (2007) (1)
Predicting causal variants affecting 1 expression using whole genome 2 sequence and RNA - seq from multiple 3 human tissues (2017) (1)
Transcriptome Sequencing Reveals Widespread Gene-Gene and Gene-Environment Interactions (2014) (1)
Supplementary Material 4 (2015) (1)
Mapping eQTLs With RNA-Seq Reveals Novel SLE Susceptibility Genes, Non-Coding RNAs, and Alternative-Splicing Events That Are Concealed Using Microarrays (2016) (1)
Erratum: Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants (2015) (1)
Clustering on baseline clinical variables identifies subgroups of type 2 diabetes patients with different rate of progression over 18 months: a DIRECT study (2017) (1)
Contribution of schizophrenia polygenic burden to longitudinal phenotypic variance in 22q11.2 deletion syndrome (2022) (1)
Author response: Transcriptomic analyses reveal rhythmic and CLOCK-driven pathways in human skeletal muscle (2018) (1)
OP0332 The genomic architecture of systemic lupus erythematosus (SLE) by RNA-SEQ: distinct disease susceptibility, activity and severity signatures and extensive genetic effects on whole blood gene expression (2017) (1)
Immune response is a personal matter (2013) (1)
Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies (2014) (1)
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function (2022) (1)
Supplementary Material 9 (2013) (1)
Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability (2021) (1)
Supplementary Material 15 (2013) (1)
Genetic variation in correlated regulatory region of Immunity (2022) (1)
OP0277 RNA SEQUENCING AND MACHINE LEARNING TECHNIQUES PREDICT MAJOR ORGAN INVOLVEMENT IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS (2019) (0)
The genetics of regulator yv ariation in the human genome (2005) (0)
lymphoblastoid cell lines is largely independent Genetic control of gene expression in whole blood and (2012) (0)
Leveraging interindividual variability of regulatory activity for refining genetic regulation of gene expression in schizophrenia (2021) (0)
Mo1517: LONGITUDINAL MULTI-OMICS ANALYSIS IDENTIFIES EARLY BLOODBASED PREDICTORS OF ANTI-TNF THERAPY RESPONSE IN INFLAMMATORY BOWEL DISEASE (2022) (0)
Author response: Genetic interactions affecting human gene expression identified by variance association mapping (2014) (0)
Population Genetic Principles and Human Populations (2010) (0)
Genomics in the center of biology and biomedicine (2017) (0)
Genomic profiling of late‐onset basal cell carcinomas from two brothers with nevoid basal cell carcinoma syndrome (2020) (0)
A brief history of human disease genetics (2020) (0)
Erratum: Genome variation and evolution of the malaria parasite Plasmodium falciparum (Nature Genetics (2007) 39, (120-125)) (2007) (0)
Genetic variation in cis-regulatory domains suggests cell type-specific regulatory mechanisms in immunity (2023) (0)
P0359CROSS-TISSUE AND MURINE-HUMAN COMPARATIVE TRANSCRIPTOME ANALYSES IDENTIFY TARGETABLE GENES FOR HUMAN SYSTEMIC LUPUS ERYTHEMATOUS AND LUPUS NEPHRITIS (2020) (0)
Transposable elements mediate genetic effects altering the expression of nearby genes in colorectal cancer (2021) (0)
CORRIGENDUM: Genome variation and evolution of the malaria parasite Plasmodium falciparum (2007) (0)
individuals will respond successfully to the influenza vaccine. (2013) (0)
Identification of tissue-specific and common methylation quantitative trait loci in healthy individuals using MAGAR (2021) (0)
2021 Curt Stern Award: Studying the biology of "junk". (2022) (0)
Publisher Correction: MethCORR modelling of methylomes from formalin-fixed paraffin-embedded tissue enables characterization and prognostication of colorectal cancer (2020) (0)
Understanding the phenotypic impact of non-coding sequence variation (2014) (0)
Early life socioeconomic position and adult systemic inflammation: the role of gene regulation (2019) (0)
Predicting and elucidating the etiology of fatty liver disease using a machine learning-based approach: an IMI DIRECT study (2020) (0)
Abstract 2630: Integration of tumor microenvironment and molecular subclassification of colorectal cancer identifies patient subsets with poor prognosis (2016) (0)
INTEGRATED MULTI-OMIC ANALYSIS OF A RARE INBORN ERROR OF METABOLISM (2022) (0)
Resource Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing (2018) (0)
S4D:7 Next generation sequencing in hematopoietic progenitors of murine sle model reveals aberrant regulation of cebp/a expression (2018) (0)
Reproducible mRNA and small RNA sequencing across different laboratories (2013) (0)
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size SORANZO (2019) (0)
THU0014 COMPARATIVE TRANSCRIPTOME ANALYSES ACROSS TISSUES AND SPECIES IDENTIFY TARGETABLE GENES FOR HUMAN SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) AND LUPUS NEPHRITIS (LN) (2020) (0)
Olivopontocerebellar atrophy with dementia syndrome (2006) (0)
Understanding the phenotypic impact of non-coding sequence variation (2014) (0)
Genomic dissection of Systemic Lupus Erythematosus: Distinct Susceptibility, Activity and Severity Signatures (2018) (0)
Individual effects of gastric bypass surgery on longitudinal blood protein profiles: an IMI DIRECT study (2019) (0)
The effect of genetic variation on promoter usage and enhancer activity (2017) (0)
SP129COMPARATIVE TRANSCRIPTOME PROFILING OF THE SPLEEN AND KIDNEYS BY NEXT GENERATION SEQUENCING IN A LUPUS MURINE MODEL REVEALS NOVEL MOLECULAR PATHWAYS (2016) (0)
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (2017) (0)
Multiallelic Copy Number Variation in ORM1 is Associated with Plasma Cell-Free DNA Levels as an Intermediate Phenotype for Venous Thromboembolism (2022) (0)
NpgRj_Ng_2142 1..8 (2007) (0)
Corrigendum: Genome variation and evolution of the malaria parasite Plasmodium falciparum (2007) (0)
Correction: The Transcriptome of Equine Peripheral Blood Mononuclear Cells (2015) (0)
Identification of tissue-specific and common methylation quantitative trait loci in healthy individuals using MAGAR (2021) (0)
Ether Lipids and Adipocyte-Derived 1-Deoxyceramides as Hallmarks for Lean and Obese Type 2 Diabetic Patients (2020) (0)
Correction to: The role of physical activity in metabolic homeostasis before and after the onset of type 2 diabetes: an IMI DIRECT study (2020) (0)
The role of physical activity in metabolic homeostasis before and after the onset of type 2 diabetes (2020) (0)
Edinburgh Research Explorer Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes (2018) (0)
A novel anti-influenza combined therapy assessed by single cell RNA-sequencing (2021) (0)
The Biological Significance of Conserved Nongenic DNA (2008) (0)
Contribution of allelic imbalance to colorectal cancer (2018) (0)
Hundreds of Putative Non-Coding Cis-Regulatory Drivers in Chronic Lymphocytic Leukaemia and Skin Cancer (2017) (0)
articleHigh-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta (2019) (0)
Assessing Heterogeneity of cis eQTLs Across Eight Ancestry Groups (2012) (0)
Cellular Genomics in Human Populations (2011) (0)
Biomarkers of skin ageing using genome wide transcriptomics (2011) (0)
P108 Exploring the molecular basis of gender bias in systemic lupus erythematosus (SLE) (2018) (0)
University of Dundee Processes Underlying Glycemic Deterioration in Type 2 Diabetes IMI DIRECT Consortium; Bizzotto, Roberto; Jennison, Christopher; Jones, Angus G.; Kurbasic, (2020) (0)
Author response: The genomic landscape of human cellular circadian variation points to a novel role for the signalosome (2017) (0)
Abstract 466: A novel DNA methylation-based approach for molecular subtyping and improved prognostication of colorectal cancer using formalin-fixed and paraffin-embedded tissue (2019) (0)
Faculty Opinions recommendation of Common deletion polymorphisms in the human genome. (2006) (0)
Extensive fragmentation and re-organization of gene co-expression patterns underlie the progression of Systemic Lupus Erythematosus (2020) (0)
Genome-Wide Association Identi ﬁ es Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes (2011) (0)
Evolution of components of gene regulation in Drosophila and mammals (2001) (0)
FRI0155 Α MULTICENTER “AT-RISK” COHORT FOR THE DISCOVERY OF ENVIRONMENTAL, CLINICAL AND MOLECULAR PREDICTORS FOR THE TRANSITION INTO SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) (2020) (0)
Genetic correlations reveal the shared genetic architecture of transcription in human peripheral blood (2017) (0)
MethCORR modelling of methylomes from formalin-fixed paraffin-embedded tissue enables characterization and prognostication of colorectal cancer (2020) (0)
DNA sequence evolution and phylogenetic footprinting. (2005) (0)
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells (2018) (0)
Faculty Opinions recommendation of Common deletions and SNPs are in linkage disequilibrium in the human genome. (2006) (0)
Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types (2017) (0)

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