Emmanouil Dermitzakis, Manolis Dermitzakis
Emmanouil Dermitzakis, Manolis Dermitzakis
VP Computational Biology, GSK
Adresse e-mail validée de gsk.com
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A second generation human haplotype map of over 3.1 million SNPs
International HapMap Consortium
Nature 449 (7164), 851, 2007
8452*2007
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
75442010
Initial sequencing and comparative analysis of the mouse genome
MGS Consortium
Nature 420 (6915), 520-562, 2002
7373*2002
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56-65, 2012
71382012
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
54502007
The genotype-tissue expression (GTEx) project
J Lonsdale, J Thomas, M Salvatore, R Phillips, E Lo, S Shad, R Hasz, ...
Nature genetics 45 (6), 580-585, 2013
44832013
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
GTEx Consortium, KG Ardlie, DS Deluca, AV Segrè, TJ Sullivan, ...
Science 348 (6235), 648-660, 2015
32052015
Integrating common and rare genetic variation in diverse human populations
International HapMap 3 Consortium
Nature 467 (7311), 52, 2010
26212010
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
18822007
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), 913-918, 2007
17882007
Transcriptome and genome sequencing uncovers functional variation in humans
T Lappalainen, M Sammeth, MR Friedländer, P Ac‘t Hoen, J Monlong, ...
Nature 501 (7468), 506-511, 2013
16372013
Genetic effects on gene expression across human tissues.
A Battle, CD Brown, BE Engelhardt, SB Montgomery
Nature 550 (7675), 204-213, 2017
1615*2017
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), 768-775, 2008
14022008
Population genomics of human gene expression
BE Stranger, AC Nica, MS Forrest, A Dimas, CP Bird, C Beazley, CE Ingle, ...
Nature genetics 39 (10), 1217-1224, 2007
12842007
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
11542012
A haplotype map of the human genome
D Altshuler, P Donnelly, International HapMap Consortium
Nature 437 (7063), nature04226, 2005
11042005
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
9562015
Transcriptome genetics using second generation sequencing in a Caucasian population
SB Montgomery, M Sammeth, M Gutierrez-Arcelus, RP Lach, C Ingle, ...
Nature 464 (7289), 773-777, 2010
9292010
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
8342009
Chromosome 21 and down syndrome: from genomics to pathophysiology
SE Antonarakis, R Lyle, ET Dermitzakis, A Reymond, S Deutsch
Nature reviews genetics 5 (10), 725-738, 2004
8032004
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