List of works - Emmanouil Dermitzakis

A second generation human haplotype map of over 3.1 million SNPs

scientific article

Accurate, scalable and integrative haplotype estimation

scientific article published on 28 November 2019

Analysis of case-control association studies with known risk variants

scientific article

Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells

scientific article published on 02 December 2008

BLUEPRINT to decode the epigenetic signature written in blood.

scientific article

Cell type-specific genetic regulation of gene expression across human tissues

scientific article published on 01 September 2020

Chromatin three-dimensional interactions mediate genetic effects on gene expression

scientific article published on 01 May 2019

Chromosome 21 and down syndrome: from genomics to pathophysiology

scientific article

Common variants near MC4R are associated with fat mass, weight and risk of obesity

scientific article

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

scientific article published on 12 April 2004

Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes

scientific article

Conserved non-genic sequences - an unexpected feature of mammalian genomes

scientific article

Conserved noncoding sequences are selectively constrained and not mutation cold spots

article by Jared A Drake et al published 25 December 2005 in Nature Genetics

Contribution of allelic imbalance to colorectal cancer

scientific article published in Nature Communications

Estimating the causal tissues for complex traits and diseases

scientific article

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

scientific article

Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).

scientific article

Extensive natural variation for cellular hydrogen peroxide release is genetically controlled

scientific article

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

scientific article

Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines

scientific article

Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent

scientific article published on 19 December 2011

Genetic evidence of assortative mating in humans

article

Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D

scientific article published on 30 September 2020

Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes

scientific article

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

scientific article

Genome-wide detection and characterization of positive selection in human populations

scientific article

Human chromosome 21 gene expression atlas in the mouse

scientific article published in December 2002

Human genomics. The human transcriptome across tissues and individuals

scientific article

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

scientific article published in June 2007

Initial sequencing and comparative analysis of the mouse genome

scientific article

Integrative annotation of variants from 1092 humans: application to cancer genomics

scientific article

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

scientific article

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

scientific article

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

scientific article

MethCORR modelling of methylomes from formalin-fixed paraffin-embedded tissue enables characterization and prognostication of colorectal cancer

scientific article published on 24 April 2020

Open Label Prospective Experience of Supplementation with a Fixed Combination of Magnesium, Vitamin B2, Feverfew, Andrographis Paniculata and Coenzyme Q10 for Episodic Migraine Prophylaxis

scientific article published on 27 December 2020

Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues

scientific article

Publisher Correction: MethCORR modelling of methylomes from formalin-fixed paraffin-embedded tissue enables characterization and prognostication of colorectal cancer

scientific article published on 03 June 2020

Putative cis-regulatory drivers in colorectal cancer

scientific article published on 23 July 2014

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

scientific article

Tandem chimerism as a means to increase protein complexity in the human genome

scientific article

The Brisbane Systems Genetics Study: genetical genomics meets complex trait genetics

scientific article

The impact of sex on gene expression across human tissues

scientific article

The molecular basis, genetic control and pleiotropic effects of local gene co-expression

scientific article published on 10 August 2021

Transcriptome and genome sequencing uncovers functional variation in humans

scientific article

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

scholarly article published 19 October 2018

Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation

article

List of works by Emmanouil Dermitzakis

A second generation human haplotype map of over 3.1 million SNPs

Accurate, scalable and integrative haplotype estimation

Analysis of case-control association studies with known risk variants

Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells

BLUEPRINT to decode the epigenetic signature written in blood.

Cell type-specific genetic regulation of gene expression across human tissues

Chromatin three-dimensional interactions mediate genetic effects on gene expression

Chromosome 21 and down syndrome: from genomics to pathophysiology

Common variants near MC4R are associated with fat mass, weight and risk of obesity

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

Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes

Conserved non-genic sequences - an unexpected feature of mammalian genomes

Conserved noncoding sequences are selectively constrained and not mutation cold spots

Contribution of allelic imbalance to colorectal cancer

Estimating the causal tissues for complex traits and diseases

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).

Extensive natural variation for cellular hydrogen peroxide release is genetically controlled

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines

Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent

Genetic evidence of assortative mating in humans

Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D

Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

Genome-wide detection and characterization of positive selection in human populations

Human chromosome 21 gene expression atlas in the mouse

Human genomics. The human transcriptome across tissues and individuals

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Initial sequencing and comparative analysis of the mouse genome

Integrative annotation of variants from 1092 humans: application to cancer genomics

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

MethCORR modelling of methylomes from formalin-fixed paraffin-embedded tissue enables characterization and prognostication of colorectal cancer

Open Label Prospective Experience of Supplementation with a Fixed Combination of Magnesium, Vitamin B2, Feverfew, Andrographis Paniculata and Coenzyme Q10 for Episodic Migraine Prophylaxis

Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues

Publisher Correction: MethCORR modelling of methylomes from formalin-fixed paraffin-embedded tissue enables characterization and prognostication of colorectal cancer

Putative cis-regulatory drivers in colorectal cancer

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

Tandem chimerism as a means to increase protein complexity in the human genome

The Brisbane Systems Genetics Study: genetical genomics meets complex trait genetics

The impact of sex on gene expression across human tissues

The molecular basis, genetic control and pleiotropic effects of local gene co-expression

Transcriptome and genome sequencing uncovers functional variation in humans

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation