Emmanouil Dermitzakis
Emmanouil Dermitzakis
Professor of Genetics, University of Geneva Medical School / Director, Health 2030 Genome Center
Verified email at unige.ch - Homepage
TitleCited byYear
A second generation human haplotype map of over 3.1 million SNPs
International HapMap Consortium
Nature 449 (7164), 851, 2007
7679*2007
Initial sequencing and comparative analysis of the mouse genome
Mouse Genome Sequencing Consortium
Nature 420 (6915), 520, 2002
66492002
A map of human genome variation from population-scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
65552010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
59122012
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
ENCODE Project Consortium
Nature 447 (7146), 799, 2007
48492007
The genotype-tissue expression (GTEx) project
J Lonsdale, J Thomas, M Salvatore, R Phillips, E Lo, S Shad, R Hasz, ...
Nature genetics 45 (6), 580, 2013
24582013
The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans
GTEx Consortium
Science 348 (6235), 648-660, 2015
19332015
Relative impact of nucleotide and copy number variation on gene expression phenotypes
BE Stranger, MS Forrest, M Dunning, CE Ingle, C Beazley, N Thorne, ...
Science 315 (5813), 848-853, 2007
16602007
Genome-wide detection and characterization of positive selection in human populations
PC Sabeti, P Varilly, B Fry, J Lohmueller, E Hostetter, C Cotsapas, X Xie, ...
Nature 449 (7164), 913, 2007
14232007
Common variants near MC4R are associated with fat mass, weight and risk of obesity
RJF Loos, CM Lindgren, S Li, E Wheeler, JH Zhao, I Prokopenko, ...
Nature genetics 40 (6), 768, 2008
12282008
Transcriptome and genome sequencing uncovers functional variation in humans
T Lappalainen, M Sammeth, MR Friedländer, P AC‘t Hoen, J Monlong, ...
Nature 501 (7468), 506, 2013
11952013
Population genomics of human gene expression
BE Stranger, AC Nica, MS Forrest, A Dimas, CP Bird, C Beazley, CE Ingle, ...
Nature genetics 39 (10), 1217, 2007
11432007
A haplotype map of the human genome
D Altshuler, P Donnelly, International HapMap Consortium
Nature 437 (7063), 1299, 2005
10262005
A systematic survey of loss-of-function variants in human protein-coding genes
DG MacArthur, S Balasubramanian, A Frankish, N Huang, J Morris, ...
Science 335 (6070), 823-828, 2012
9192012
Transcriptome genetics using second generation sequencing in a Caucasian population
SB Montgomery, M Sammeth, M Gutierrez-Arcelus, RP Lach, C Ingle, ...
Nature 464 (7289), 773, 2010
8262010
Common regulatory variation impacts gene expression in a cell type–dependent manner
AS Dimas, S Deutsch, BE Stranger, SB Montgomery, C Borel, ...
Science 325 (5945), 1246-1250, 2009
7382009
Genetic effects on gene expression across human tissues
GTEx Consortium
Nature 550 (7675), 204, 2017
6792017
Chromosome 21 and down syndrome: from genomics to pathophysiology
SE Antonarakis, R Lyle, ET Dermitzakis, A Reymond, S Deutsch
Nature reviews genetics 5 (10), 725, 2004
6462004
Mapping cis- and trans-regulatory effects across multiple tissues in twins
E Grundberg, KS Small, ÅK Hedman, AC Nica, A Buil, S Keildson, JT Bell, ...
Nature genetics 44 (10), 1084, 2012
6322012
The human transcriptome across tissues and individuals
M Melé, PG Ferreira, F Reverter, DS DeLuca, J Monlong, M Sammeth, ...
Science 348 (6235), 660-665, 2015
6242015
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