PubRank

Emmanouil T Dermitzakis

Author PubWeight™ 565.47‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Initial sequencing and comparative analysis of the mouse genome. Nature 2002 96.15
2 A second generation human haplotype map of over 3.1 million SNPs. Nature 2007 85.39
3 Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 2007 75.09
4 Population genomics of human gene expression. Nat Genet 2007 24.49
5 Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 2007 23.38
6 Genome-wide detection and characterization of positive selection in human populations. Nature 2007 17.27
7 Genome-wide associations of gene expression variation in humans. PLoS Genet 2005 17.27
8 Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet 2008 15.94
9 Transcriptome genetics using second generation sequencing in a Caucasian population. Nature 2010 14.85
10 A systematic survey of loss-of-function variants in human protein-coding genes. Science 2012 12.25
11 Common regulatory variation impacts gene expression in a cell type-dependent manner. Science 2009 11.28
12 High-resolution mapping of expression-QTLs yields insight into human gene regulation. PLoS Genet 2008 9.68
13 Transcriptome and genome sequencing uncovers functional variation in humans. Nature 2013 8.89
14 Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nat Genet 2012 6.97
15 The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet 2011 5.95
16 Patterns of cis regulatory variation in diverse human populations. PLoS Genet 2012 5.28
17 Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. PLoS Genet 2008 5.08
18 Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations. PLoS Genet 2010 4.95
19 Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nat Genet 2005 4.79
20 Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies. Bioinformatics 2010 4.56
21 Human chromosome 21 gene expression atlas in the mouse. Nature 2002 4.36
22 Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. PLoS Genet 2009 4.24
23 Insights into hominid evolution from the gorilla genome sequence. Nature 2012 4.12
24 Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population. PLoS Genet 2012 4.05
25 Tandem chimerism as a means to increase protein complexity in the human genome. Genome Res 2005 3.89
26 Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes. Proc Natl Acad Sci U S A 2003 3.73
27 Genome variation and evolution of the malaria parasite Plasmodium falciparum. Nat Genet 2006 3.68
28 Chromosome 21 and down syndrome: from genomics to pathophysiology. Nat Rev Genet 2004 3.58
29 Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization. Genome Biol 2007 3.54
30 BLUEPRINT to decode the epigenetic signature written in blood. Nat Biotechnol 2012 3.24
31 Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes. Nat Genet 2011 3.20
32 Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet 2013 2.83
33 A genome-wide association study of testicular germ cell tumor. Nat Genet 2009 2.79
34 Passive and active DNA methylation and the interplay with genetic variation in gene regulation. Elife 2013 2.70
35 Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription. Science 2013 2.66
36 Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories. Nat Biotechnol 2013 2.53
37 Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements. Am J Hum Genet 2013 2.40
38 Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat Genet 2010 2.35
39 Large-scale population study of human cell lines indicates that dosage compensation is virtually complete. PLoS Genet 2007 2.27
40 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 2.21
41 The genetics of regulatory variation in the human genome. Hum Genomics 2005 2.05
42 The functional impact of structural variation in humans. Trends Genet 2008 2.03
43 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. Am J Hum Genet 2004 1.97
44 Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes. Hum Mol Genet 2005 1.96
45 From expression QTLs to personalized transcriptomics. Nat Rev Genet 2011 1.94
46 Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nat Genet 2011 1.84
47 Using gene expression to investigate the genetic basis of complex disorders. Hum Mol Genet 2008 1.82
48 Rare and common regulatory variation in population-scale sequenced human genomes. PLoS Genet 2011 1.79
49 Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling. Cancer Cell 2010 1.78
50 An immune response network associated with blood lipid levels. PLoS Genet 2010 1.74
51 From gene expression to disease risk. Nat Genet 2008 1.69
52 Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts. Genome Res 2010 1.67
53 Fast-evolving noncoding sequences in the human genome. Genome Biol 2007 1.64
54 Gene expression levels are a target of recent natural selection in the human genome. Mol Biol Evol 2008 1.63
55 Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome. Genome Res 2013 1.58
56 Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent. Genome Res 2011 1.58
57 From DNA to RNA to disease and back: the 'central dogma' of regulatory disease variation. Hum Genomics 2006 1.56
58 The Brisbane Systems Genetics Study: genetical genomics meets complex trait genetics. PLoS One 2012 1.49
59 Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains. Nat Genet 2005 1.42
60 Modifier effects between regulatory and protein-coding variation. PLoS Genet 2008 1.42
61 Epistatic selection between coding and regulatory variation in human evolution and disease. Am J Hum Genet 2011 1.41
62 Functional variation and evolution of non-coding DNA. Curr Opin Genet Dev 2006 1.37
63 Congruence of additive and non-additive effects on gene expression estimated from pedigree and SNP data. PLoS Genet 2013 1.35
64 Gene expression changes with age in skin, adipose tissue, blood and brain. Genome Biol 2013 1.34
65 Genomic variation and its impact on gene expression in Drosophila melanogaster. PLoS Genet 2012 1.31
66 Extent, causes, and consequences of small RNA expression variation in human adipose tissue. PLoS Genet 2012 1.28
67 Sharing and Specificity of Co-expression Networks across 35 Human Tissues. PLoS Comput Biol 2015 1.27
68 The resolution of the genetics of gene expression. Hum Mol Genet 2009 1.24
69 Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease. Hum Mol Genet 2010 1.21
70 Analysis of case-control association studies with known risk variants. Bioinformatics 2012 1.20
71 Expression quantitative trait loci: present and future. Philos Trans R Soc Lond B Biol Sci 2013 1.20
72 High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta. BMC Genet 2010 1.18
73 Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies. Genome Biol 2014 1.12
74 Non-CpG island promoter hypomethylation and miR-149 regulate the expression of SRPX2 in colorectal cancer. Int J Cancer 2012 1.06
75 Sex-biased genetic effects on gene regulation in humans. Genome Res 2012 1.05
76 Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. PLoS Genet 2005 0.97
77 Genetic and epigenetic regulation of human lincRNA gene expression. Am J Hum Genet 2013 0.97
78 Genetic and epigenetic contribution to complex traits. Hum Mol Genet 2012 0.97
79 Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. Eur J Hum Genet 2008 0.95
80 Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells. Genome Biol 2008 0.92
81 Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB. Hum Mutat 2012 0.88
82 Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes. J Allergy Clin Immunol 2012 0.88
83 Long- and short-term selective forces on malaria parasite genomes. PLoS Genet 2010 0.86
84 Genetic variation of regulatory systems. Curr Opin Genet Dev 2009 0.85
85 Genotype-based test in mapping cis-regulatory variants from allele-specific expression data. PLoS One 2012 0.84
86 Expression of phosphofructokinase in skeletal muscle is influenced by genetic variation and associated with insulin sensitivity. Diabetes 2013 0.83
87 Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. Invest Ophthalmol Vis Sci 2014 0.83
88 Data analysis issues for allele-specific expression using Illumina's GoldenGate assay. BMC Bioinformatics 2010 0.79
89 Extensive natural variation for cellular hydrogen peroxide release is genetically controlled. PLoS One 2012 0.77
90 Evolutionary history of regulatory variation in human populations. Hum Mol Genet 2010 0.77
91 Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data. Bioinformatics 2013 0.77
92 Mapping eQTLs with RNA-Seq Reveals Novel Susceptibility Genes, Non-Coding RNAs, and Alternative-Splicing Events in Systemic Lupus Erythematosus. Hum Mol Genet 2017 0.75
93 Immune response is a personal matter. Elife 2013 0.75
94 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. J Biol Chem 2015 0.75
95 MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay data sets. Bioinformatics 2017 0.75