Publications

171. SNHG16 is regulated by the Wnt pathway in colorectal cancer and affects genes involved in lipid metabolism.
Christensen LL, True K ... Dermitzakis E ... Ørntoft TF, Andersen CL.
Mol Oncol. 2016 Jun 26. doi:pii: S1574-7891(16)30057-6. 10.1016/j.molonc.2016.06.003. [Epub ahead of print]

170. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G ...
Mol Psychiatry. 2016 May 31. doi: 10.1038/mp.2016.84. [Epub ahead of print]

169. Sequential transcriptional waves direct the differentiation of newborn neurons in the mouse neocortex.
Telley L, Govindan S ... Dermitzakis E, Dayer A, Jabaudon D.
Science. 2016 Mar 25;351(6280):1443-6. doi: 10.1126/science.aad8361. Epub 2016 Mar 3.

168. IL-13 improves beta-cell survival and protects against IL-1beta-induced beta-cell death.
Rütti S, Howald C, Arous C, Dermitzakis E, Halban PA ...
Mol Metab. 2016 Feb;5(2):122-31. doi: 10.1016/j.molmet.2015.11.003.

167. Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
Hinds DA, Buil A ... Dermitzakis ET ... INVENT Consortium, Sabater-Lleal M.
Hum Mol Genet. 2016 May 1;25(9):1867-74. doi: 10.1093/hmg/ddw037. Epub 2016 Feb 9.

166. Fast and efficient QTL mapper for thousands of molecular phenotypes.
Ongen H, Buil A, Brown AA, Dermitzakis ET, Delaneau O.
Bioinformatics. 2016 May 15;32(10):1479-85. doi: 10.1093/bioinformatics/btv722. Epub 2015 Dec 26.

165. A functional circadian clock is required for proper insulin secretion by human pancreatic islet cells.
Saini C, Petrenko V ... Howald C, Dermitzakis ET, Dibner C.
Diabetes Obes Metab. 2016 Apr;18(4):355-65. doi: 10.1111/dom.12616. Epub 2016 Jan 22.

164. 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.
van de Bunt M, Manning Fox JE ... Dermitzakis ET ... McCarthy MI, Gloyn AL.
PLoS Genet. 2015 Dec;11(12):e1005694. doi: 10.1371/journal.pgen.1005694.

163. The SIB Swiss Institute of Bioinformatics' resources: focus on curated databases.
SIB Swiss Institute of Bioinformatics Members.
Nucleic Acids Res. 2016 Jan 4;44(D1):D27-37. doi: 10.1093/nar/gkv1310. Epub 2015 Nov 28.

162. A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project.
Carithers LJ, Ardlie K, Barcus M, Branton PA, Britton A ...
Biopreserv Biobank. 2015 Oct;13(5):311-9. doi: 10.1089/bio.2015.0032.

161. Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases.
Yang J, Huang T, Petralia F, Long Q, Zhang B ...
Sci Rep. 2015 Oct 19;5:15145. doi: 10.1038/srep15145.

160. A global reference for human genetic variation.
1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP ...
Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393.

159. Alternative Splicing QTLs in European and African Populations.
Ongen H, Dermitzakis ET.
Am J Hum Genet. 2015 Oct 1;97(4):567-75. doi: 10.1016/j.ajhg.2015.09.004.

158. Population Variation and Genetic Control of Modular Chromatin Architecture in Humans.
Waszak SM, Delaneau O ... Reymond A, Deplancke B, Dermitzakis ET.
Cell. 2015 Aug 27;162(5):1039-50. doi: 10.1016/j.cell.2015.08.001. Epub 2015 Aug 20.

157. Impaired Cell Cycle Regulation in a Natural Equine Model of Asthma.
Pacholewska A, Jagannathan V ... Dermitzakis ET ... Leeb T, Gerber V.
PLoS One. 2015;10(8):e0136103. doi: 10.1371/journal.pone.0136103.

156. Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes.
Lukowski SW, Fish RJ ... Maechler P, Dermitzakis ET, Neerman-Arbez M.
Data Brief. 2015 Sep;4:226-8. doi: 10.1016/j.dib.2015.05.023.

155. 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.
Arous C, Ferreira PG, Dermitzakis ET, Halban PA.
J Biol Chem. 2015 Jun 5;290(23):14491. doi: 10.1074/jbc.A114.611111. No abstract available.

154. Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants.
Allum F, Shao X, Guénard F, Simon MM, Busche S ...
Nat Commun. 2015 May 29;6:7211. doi: 10.1038/ncomms8211.

153. Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes.
Lukowski SW, Fish RJ ... Maechler P, Dermitzakis ET, Neerman-Arbez M.
Genomics. 2015 Aug;106(2):107-15. doi: 10.1016/j.ygeno.2015.05.001. Epub 2015 May 12.

152. Sharing and Specificity of Co-expression Networks across 35 Human Tissues.
Pierson E, GTEx Consortium ... Kellis M, Volpi S, Dermitzakis ET.
PLoS Comput Biol. 2015 May;11(5):e1004220. doi: 10.1371/journal.pcbi.1004220.

151. Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.
Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK ...
Science. 2015 May 8;348(6235):666-9. doi: 10.1126/science.1261877.

150. Human genomics. The human transcriptome across tissues and individuals.
Melé M, Ferreira PG ... Dermitzakis ET, Ardlie KG, Guigó R.
Science. 2015 May 8;348(6235):660-5. doi: 10.1126/science.aaa0355.

149. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.
GTEx Consortium.
Science. 2015 May 8;348(6235):648-60. doi: 10.1126/science.1262110. Epub 2015 May 7.

148. Assessing allele-specific expression across multiple tissues from RNA-seq read data.
Pirinen M, Lappalainen T, Zaitlen NA, GTEx Consortium, Dermitzakis ET ...
Bioinformatics. 2015 Aug 1;31(15):2497-504. doi: 10.1093/bioinformatics/btv074. Epub 2015 Mar 27.

147. The transcriptome of equine peripheral blood mononuclear cells.
Pacholewska A, Drögemüller M ... Dermitzakis ET ... Leeb T, Jagannathan V.
PLoS One. 2015;10(3):e0122011. doi: 10.1371/journal.pone.0122011.

146. Genetic studies of body mass index yield new insights for obesity biology.
Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH ...
Nature. 2015 Feb 12;518(7538):197-206. doi: 10.1038/nature14177.

145. New genetic loci link adipose and insulin biology to body fat distribution.
Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE ...
Nature. 2015 Feb 12;518(7538):187-96. doi: 10.1038/nature14132.

144. Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel.
Delaneau O, Marchini J; 1000 Genomes Project Consortium; 1000 Genomes Project Consortium.
Nat Commun. 2014 Jun 13;5:3934. doi: 10.1038/ncomms4934.

143. Quantitative variability of 342 plasma proteins in a human twin population.
Liu Y, Buil A ... Spector TD, Dermitzakis ET, Aebersold R.
Mol Syst Biol. 2015 Feb 4;11(1):786. doi: 10.15252/msb.20145728.

142. Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.
Gutierrez-Arcelus M, Ongen H ... Gehrig C, Antonarakis SE, Dermitzakis ET.
PLoS Genet. 2015 Jan;11(1):e1004958. doi: 10.1371/journal.pgen.1004958.

141. 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.
Arous C, Ferreira PG, Dermitzakis ET, Halban PA.
J Biol Chem. 2015 Mar 6;290(10):6653-69. doi: 10.1074/jbc.M114.611111. Epub 2015 Jan 13.

140. Biased allelic expression in human primary fibroblast single cells.
Borel C, Ferreira PG ... Carninci P, Dermitzakis ET, Antonarakis SE.
Am J Hum Genet. 2015 Jan 8;96(1):70-80. doi: 10.1016/j.ajhg.2014.12.001. Epub 2014 Dec 31.

139. Gene age predicts the strength of purifying selection acting on gene expression variation in humans.
Popadin KY, Gutierrez-Arcelus M ... Zdobnov EM, Dermitzakis ET, Antonarakis SE.
Am J Hum Genet. 2014 Dec 4;95(6):660-74. doi: 10.1016/j.ajhg.2014.11.003.

138. Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins.
Buil A, Brown AA ... Durbin R, Spector TD, Dermitzakis ET.
Nat Genet. 2015 Jan;47(1):88-91. doi: 10.1038/ng.3162. Epub 2014 Dec 1.

137. Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation.
Tsaprouni LG, Yang TP ... Dermitzakis E ... Samani NJ, Deloukas P.
Epigenetics. 2014 Oct;9(10):1382-96. doi: 10.4161/15592294.2014.969637.

136. Fractalkine (CX3CL1), a new factor protecting β-cells against TNFα.
Rutti S, Arous C ... Dermitzakis E ... Halban PA, Bouzakri K.
Mol Metab. 2014 Oct;3(7):731-41. doi: 10.1016/j.molmet.2014.07.007.

135. Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies.
Panousis NI, Gutierrez-Arcelus M, Dermitzakis ET, Lappalainen T.
Genome Biol. 2014 Sep 20;15(9):467. doi: 10.1186/s13059-014-0467-2.

134. Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants.
Greger L, Su J ... Lappalainen T, Dermitzakis ET, Brazma A.
PLoS One. 2014;9(8):e104567. doi: 10.1371/journal.pone.0104567.

133. Putative cis-regulatory drivers in colorectal cancer.
Ongen H, Andersen CL ... Esteller M, Orntoft TF, Dermitzakis ET.
Nature. 2014 Aug 7;512(7512):87-90. doi: 10.1038/nature13602. Epub 2014 Jul 23.

132. Cis and trans effects of human genomic variants on gene expression.
Bryois J, Buil A ... Deloukas P, Davey Smith G, Dermitzakis ET.
PLoS Genet. 2014 Jul;10(7):e1004461. doi: 10.1371/journal.pgen.1004461.

131. Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.
Colonna V, Ayub Q, Chen Y, Pagani L, Luisi P ...
Genome Biol. 2014 Jun 30;15(6):R88. doi: 10.1186/gb-2014-15-6-r88.

130. Genetic interactions affecting human gene expression identified by variance association mapping.
Brown AA, Buil A ... Spector TD, Dermitzakis ET, Durbin R.
Elife. 2014 Apr 25;3:e01381. doi: 10.7554/eLife.01381.

129. Quality control and conduct of genome-wide association meta-analyses.
Winkler TW, Day FR, Croteau-Chonka DC, Wood AR, Locke AE ...
Nat Protoc. 2014 May;9(5):1192-212. doi: 10.1038/nprot.2014.071. Epub 2014 Apr 24.

128. Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.
Villanueva A, Willer JR, Bryois J, Dermitzakis ET, Katsanis N ...
Invest Ophthalmol Vis Sci. 2014 Apr 7;55(4):2121-9. doi: 10.1167/iovs.13-13827.

127. High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.
Kurki MI, Gaál EI, Kettunen J, Lappalainen T, Menelaou A ...
PLoS Genet. 2014 Jan;10(1):e1004134. doi: 10.1371/journal.pgen.1004134.

126. Differential methylation of the TRPA1 promoter in pain sensitivity.
Bell JT, Loomis AK, Butcher LM, Gao F, Zhang B ...
Nat Commun. 2014;5:2978. doi: 10.1038/ncomms3978.

125. Expression of phosphofructokinase in skeletal muscle is influenced by genetic variation and associated with insulin sensitivity.
Keildson S, Fadista J ... Spector TD, Dermitzakis ET, et al.
Diabetes. 2014 Mar;63(3):1154-65. doi: 10.2337/db13-1301. Epub 2013 Dec 4.

124. Genetic and epigenetic regulation of human lincRNA gene expression.
Popadin K, Gutierrez-Arcelus M, Dermitzakis ET, Antonarakis SE.
Am J Hum Genet. 2013 Dec 5;93(6):1015-26. doi: 10.1016/j.ajhg.2013.10.022. Epub 2013 Nov 21.

123. Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data.
Waszak SM, Kilpinen H ... Reymond A, Dermitzakis ET, Deplancke B.
Bioinformatics. 2014 Jan 15;30(2):165-71. doi: 10.1093/bioinformatics/btt667. Epub 2013 Nov 18.

122. Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements.
Grundberg E, Meduri E ... Dermitzakis ET ... Bell JT, et al.
Am J Hum Genet. 2013 Nov 7;93(5):876-90. doi: 10.1016/j.ajhg.2013.10.004. Epub 2013 Oct 31.

121. Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription.
Kilpinen H, Waszak SM, Gschwind AR, Raghav SK, Witwicki RM ...
Science. 2013 Nov 8;342(6159):744-7. doi: 10.1126/science.1242463. Epub 2013 Oct 17.

120. Integrative annotation of variants from 1092 humans: application to cancer genomics.
Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM ...
Science. 2013 Oct 4;342(6154):1235587. doi: 10.1126/science.1235587.

119. Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.
't Hoen PA, Friedländer MR ... Syvänen AC, Dermitzakis ET, Lappalainen T.
Nat Biotechnol. 2013 Nov;31(11):1015-22. doi: 10.1038/nbt.2702. Epub 2013 Sep 15.

118. Transcriptome and genome sequencing uncovers functional variation in humans.
Lappalainen T, Sammeth M, Friedländer MR, 't Hoen PA, Monlong J ...
Nature. 2013 Sep 26;501(7468):506-11. doi: 10.1038/nature12531. Epub 2013 Sep 15.

117. Gene expression changes with age in skin, adipose tissue, blood and brain.
Glass D, Viñuela A ... Dermitzakis ET, Weale ME, et al.
Genome Biol. 2013 Jul 26;14(7):R75. doi: 10.1186/gb-2013-14-7-r75.

116. Immune response is a personal matter.
Ferreira PG, Dermitzakis ET.
Elife. 2013 Jul 16;2:e00899. doi: 10.7554/eLife.00899.

115. Passive and active DNA methylation and the interplay with genetic variation in gene regulation.
Gutierrez-Arcelus M, Lappalainen T ... Gehrig C, Antonarakis SE, Dermitzakis ET.
Elife. 2013 Jun 4;2:e00523. doi: 10.7554/eLife.00523.

114. Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
Randall JC, Winkler TW, Kutalik Z, Berndt SI, Jackson AU ...
PLoS Genet. 2013 Jun;9(6):e1003500. doi: 10.1371/journal.pgen.1003500. Epub 2013 Jun 6.

113. Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome.
Nica AC, Ongen H ... Antonarakis SE, Halban PA, Dermitzakis ET.
Genome Res. 2013 Sep;23(9):1554-62. doi: 10.1101/gr.150706.112. Epub 2013 May 28.

112. Congruence of additive and non-additive effects on gene expression estimated from pedigree and SNP data.
Powell JE, Henders AK ... Dermitzakis ET ... Montgomery GW, Visscher PM.
PLoS Genet. 2013 May;9(5):e1003502. doi: 10.1371/journal.pgen.1003502. Epub 2013 May 16.

111. Expression quantitative trait loci: present and future.
Nica AC, Dermitzakis ET.
Philos Trans R Soc Lond B Biol Sci. 2013 May 6;368(1620):20120362. doi: 10.1098/rstb.2012.0362. Print 2013. Review.

110. Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
Saxena R, Saleheen D, Been LF, Garavito ML, Braun T ...
Diabetes. 2013 May;62(5):1746-55. doi: 10.2337/db12-1077. Epub 2013 Jan 8.

109. Genomic variation and its impact on gene expression in Drosophila melanogaster.
Massouras A, Waszak SM ... Dermitzakis ET ... Mackay TF, Deplancke B.
PLoS Genet. 2012;8(11):e1003055. doi: 10.1371/journal.pgen.1003055. Epub 2012 Nov 15.

108. Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes.
Granell R, Henderson AJ ... Dermitzakis ET, Evans DM, Sterne JA.
J Allergy Clin Immunol. 2013 Mar;131(3):685-94. doi: 10.1016/j.jaci.2012.09.021. Epub 2012 Nov 13.

107. An integrated map of genetic variation from 1,092 human genomes.
1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA ...
Nature. 2012 Nov 1;491(7422):56-65. doi: 10.1038/nature11632.

106. Non-CpG island promoter hypomethylation and miR-149 regulate the expression of SRPX2 in colorectal cancer.
Øster B, Linnet L ... Dermitzakis ET ... Ørntoft TF, Andersen CL.
Int J Cancer. 2013 May 15;132(10):2303-15. doi: 10.1002/ijc.27921. Epub 2012 Nov 21.

105. Genetic and epigenetic contribution to complex traits.
Kilpinen H, Dermitzakis ET.
Hum Mol Genet. 2012 Oct 15;21(R1):R24-8. Epub 2012 Sep 12. Review.

104. Sex-biased genetic effects on gene regulation in humans.
Dimas AS, Nica AC ... MuTHER Consortium, McCarthy MI, Dermitzakis ET.
Genome Res. 2012 Dec;22(12):2368-75. doi: 10.1101/gr.134981.111. Epub 2012 Sep 7.

103. Extensive natural variation for cellular hydrogen peroxide release is genetically controlled.
Attar H, Bedard K ... Dermitzakis ET, Krause KH, Antonarakis SE.
PLoS One. 2012;7(8):e43566. doi: 10.1371/journal.pone.0043566. Epub 2012 Aug 29.

102. Mapping cis- and trans-regulatory effects across multiple tissues in twins.
Grundberg E, Small KS, Hedman ÅK, Nica AC, Buil A ...
Nat Genet. 2012 Oct;44(10):1084-9. doi: 10.1038/ng.2394. Epub 2012 Sep 2.

101. Genotype-based test in mapping cis-regulatory variants from allele-specific expression data.
Lefebvre JF, Vello E, Ge B, Montgomery SB, Dermitzakis ET ...
PLoS One. 2012;7(6):e38667. doi: 10.1371/journal.pone.0038667. Epub 2012 Jun 7.

100. Extent, causes, and consequences of small RNA expression variation in human adipose tissue.
Parts L, Hedman ÅK ... Deloukas P, Dermitzakis ET, et al.
PLoS Genet. 2012;8(5):e1002704. doi: 10.1371/journal.pgen.1002704. Epub 2012 May 10.

99. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
Manning AK, Hivert MF, Scott RA, Grimsby JL, Bouatia-Naji N ...
Nat Genet. 2012 May 13;44(6):659-69. doi: 10.1038/ng.2274.

98. Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.
Borel C, Migliavacca E ... Dermitzakis ET, Sharp AJ, Antonarakis SE.
Hum Mutat. 2012 Aug;33(8):1302-9. doi: 10.1002/humu.22115. Epub 2012 Jun 15.

97. The Brisbane Systems Genetics Study: genetical genomics meets complex trait genetics.
Powell JE, Henders AK ... Dermitzakis ET ... Visscher PM, Montgomery GW.
PLoS One. 2012;7(4):e35430. doi: 10.1371/journal.pone.0035430. Epub 2012 Apr 26.

96. Analysis of case-control association studies with known risk variants.
Zaitlen N, Pasaniuc B ... Dermitzakis ET, Kraft P, Price AL.
Bioinformatics. 2012 Jul 1;28(13):1729-37. doi: 10.1093/bioinformatics/bts259. Epub 2012 May 3.

95. The 1000 Genomes Project: data management and community access.
Clarke L, Zheng-Bradley X, Smith R, Kulesha E, Xiao C ...
Nat Methods. 2012 Apr 27;9(5):459-62. doi: 10.1038/nmeth.1974.

94. Patterns of cis regulatory variation in diverse human populations.
Stranger BE, Montgomery SB ... Durbin R, Deloukas P, Dermitzakis ET.
PLoS Genet. 2012;8(4):e1002639. doi: 10.1371/journal.pgen.1002639. Epub 2012 Apr 19.

93. Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population.
Bell JT, Tsai PC ... Dermitzakis ET ... Spector TD, et al.
PLoS Genet. 2012;8(4):e1002629. doi: 10.1371/journal.pgen.1002629. Epub 2012 Apr 19.

92. BLUEPRINT to decode the epigenetic signature written in blood.
Adams D, Altucci L ... Dermitzakis ET ... Guigo R, et al.
Nat Biotechnol. 2012 Mar 7;30(3):224-6. doi: 10.1038/nbt.2153. No abstract available.

91. Insights into hominid evolution from the gorilla genome sequence.
Scally A, Dutheil JY, Hillier LW, Jordan GE, Goodhead I ...
Nature. 2012 Mar 7;483(7388):169-75. doi: 10.1038/nature10842.

90. A systematic survey of loss-of-function variants in human protein-coding genes.
MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J ...
Science. 2012 Feb 17;335(6070):823-8. doi: 10.1126/science.1215040.

89. Cellular genomics for complex traits.
Dermitzakis ET.
Nat Rev Genet. 2012 Feb 14;13(3):215-20. doi: 10.1038/nrg3115. Review.

88. Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.
Paternoster L, Standl M, Chen CM, Ramasamy A, Bønnelykke K ...
Nat Genet. 2011 Dec 25;44(2):187-92. doi: 10.1038/ng.1017.

87. Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent.
Powell JE, Henders AK ... Dermitzakis ET, Montgomery GW, Visscher PM.
Genome Res. 2012 Mar;22(3):456-66. doi: 10.1101/gr.126540.111. Epub 2011 Dec 19.

86. Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
Cho YS, Chen CH, Hu C, Long J, Ong RT ...
Nat Genet. 2011 Dec 11;44(1):67-72. doi: 10.1038/ng.1019.

85. The functional spectrum of low-frequency coding variation.
Marth GT, Yu F, Indap AR, Garimella K, Gravel S ...
Genome Biol. 2011 Sep 14;12(9):R84. doi: 10.1186/gb-2011-12-9-r84.

84. Epistatic selection between coding and regulatory variation in human evolution and disease.
Lappalainen T, Montgomery SB, Nica AC, Dermitzakis ET.
Am J Hum Genet. 2011 Sep 9;89(3):459-63. doi: 10.1016/j.ajhg.2011.08.004.

83. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
Strawbridge RJ, Dupuis J, Prokopenko I, Barker A, Ahlqvist E ...
Diabetes. 2011 Oct;60(10):2624-34. doi: 10.2337/db11-0415. Epub 2011 Aug 26.

82. Rare and common regulatory variation in population-scale sequenced human genomes.
Montgomery SB, Lappalainen T, Gutierrez-Arcelus M, Dermitzakis ET.
PLoS Genet. 2011 Jul;7(7):e1002144. doi: 10.1371/journal.pgen.1002144. Epub 2011 Jul 21.

81. Demographic history and rare allele sharing among human populations.
Gravel S, Henn BM, Gutenkunst RN, Indap AR, Marth GT ...
Proc Natl Acad Sci U S A. 2011 Jul 19;108(29):11983-8. doi: 10.1073/pnas.1019276108. Epub 2011 Jul 5.

80. Variation in genome-wide mutation rates within and between human families.
Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y ...
Nat Genet. 2011 Jun 12;43(7):712-4. doi: 10.1038/ng.862.

79. Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes.
Small KS, Hedman AK ... Dermitzakis ET ... McCarthy MI, MuTHER Consortium.
Nat Genet. 2011 Jun;43(6):561-4. doi: 10.1038/ng.833. Epub 2011 May 15.

78. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.
Hamamy H, Antonarakis SE ... Dermitzakis E ... Alkalamchi A, et al.
Genet Med. 2011 Sep;13(9):841-7. doi: 10.1097/GIM.0b013e318217477f.

77. Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
Spurdle AB, Thompson DJ ... Dermitzakis ET ... Salvesen HB, et al.
Nat Genet. 2011 May;43(5):451-4. doi: 10.1038/ng.812. Epub 2011 Apr 17.

76. From expression QTLs to personalized transcriptomics.
Montgomery SB, Dermitzakis ET.
Nat Rev Genet. 2011 Apr;12(4):277-82. doi: 10.1038/nrg2969. Epub 2011 Mar 9.

75. Genome-sequencing anniversary. Genome literacy.
Dermitzakis ET.
Science. 2011 Feb 11;331(6018):689-90. doi: 10.1126/science.1203237. No abstract available.

74. The architecture of gene regulatory variation across multiple human tissues: the MuTHER study.
Nica AC, Parts L, Glass D, Nisbet J, Barrett A ...
PLoS Genet. 2011 Feb 3;7(2):e1002003. doi: 10.1371/journal.pgen.1002003.

73. Mapping copy number variation by population-scale genome sequencing.
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K ...
Nature. 2011 Feb 3;470(7332):59-65. doi: 10.1038/nature09708.

72. Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts.
Borel C, Deutsch S ... Dupré Y, Dermitzakis ET, Antonarakis SE.
Genome Res. 2011 Jan;21(1):68-73. doi: 10.1101/gr.109371.110. Epub 2010 Dec 8.

71. Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling.
Chen E, Beer PA ... Dermitzakis ET, Campbell PJ, Green AR.
Cancer Cell. 2010 Nov 16;18(5):524-35. doi: 10.1016/j.ccr.2010.10.013.

70. Diversity of human copy number variation and multicopy genes.
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M ...
Science. 2010 Oct 29;330(6004):641-6. doi: 10.1126/science.1197005.

69. A map of human genome variation from population-scale sequencing.
1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD ...
Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534.

68. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
Houlston RS, Cheadle J, Dobbins SE, Tenesa A, Jones AM ...
Nat Genet. 2010 Nov;42(11):973-7. doi: 10.1038/ng.670. Epub 2010 Oct 24.

67. Evolutionary history of regulatory variation in human populations.
Lappalainen T, Dermitzakis ET.
Hum Mol Genet. 2010 Oct 15;19(R2):R197-203. doi: 10.1093/hmg/ddq406. Epub 2010 Sep 28. Review.

66. An immune response network associated with blood lipid levels.
Inouye M, Silander K ... Palotie A, Dermitzakis ET, Peltonen L.
PLoS Genet. 2010 Sep 9;6(9):e1001113. doi: 10.1371/journal.pgen.1001113.

65. Long- and short-term selective forces on malaria parasite genomes.
Nygaard S, Braunstein A ... McAuliffe J, Dermitzakis ET, Jeffares DC.
PLoS Genet. 2010 Sep 9;6(9):e1001099. doi: 10.1371/journal.pgen.1001099.

64. Integrating common and rare genetic variation in diverse human populations.
International HapMap 3 Consortium, Altshuler DM ... Dermitzakis E ... Jia X, et al.
Nature. 2010 Sep 2;467(7311):52-8. doi: 10.1038/nature09298.

63. Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.
Anttila V, Stefansson H, Kallela M, Todt U, Terwindt GM ...
Nat Genet. 2010 Oct;42(10):869-73. doi: 10.1038/ng.652. Epub 2010 Aug 29.

62. Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies.
Yang TP, Beazley C ... Stranger BE, Deloukas P, Dermitzakis ET.
Bioinformatics. 2010 Oct 1;26(19):2474-6. doi: 10.1093/bioinformatics/btq452. Epub 2010 Aug 10.

61. Data analysis issues for allele-specific expression using Illumina's GoldenGate assay.
Ritchie ME, Forrest MS, Dimas AS, Daelemans C, Dermitzakis ET ...
BMC Bioinformatics. 2010 May 26;11:280. doi: 10.1186/1471-2105-11-280.

60. High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.
Daelemans C, Ritchie ME ... Dermitzakis ET ... Moore GE, Dunham I.
BMC Genet. 2010 Apr 19;11:25. doi: 10.1186/1471-2156-11-25.

59. Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
Nica AC, Montgomery SB ... Beazley C, Barroso I, Dermitzakis ET.
PLoS Genet. 2010 Apr 1;6(4):e1000895. doi: 10.1371/journal.pgen.1000895.

58. Transcriptome genetics using second generation sequencing in a Caucasian population.
Montgomery SB, Sammeth M ... Nisbett J, Guigo R, Dermitzakis ET.
Nature. 2010 Apr 1;464(7289):773-7. doi: 10.1038/nature08903. Epub 2010 Mar 10.

57. Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.
Prescott NJ, Dominy KM ... Dermitzakis ET ... Roberts RG, Mathew CG.
Hum Mol Genet. 2010 May 1;19(9):1828-39. doi: 10.1093/hmg/ddq041. Epub 2010 Jan 27.

56. Genetic variation of regulatory systems.
Dimas AS, Dermitzakis ET.
Curr Opin Genet Dev. 2009 Dec;19(6):586-90. doi: 10.1016/j.gde.2009.10.012. Epub 2009 Nov 16. Review.

55. Genetics. Life after GWA studies.
Dermitzakis ET, Clark AG.
Science. 2009 Oct 9;326(5950):239-40. doi: 10.1126/science.1182009. No abstract available.

54. The resolution of the genetics of gene expression.
Montgomery SB, Dermitzakis ET.
Hum Mol Genet. 2009 Oct 15;18(R2):R211-5. doi: 10.1093/hmg/ddp400. Review.

53. Common regulatory variation impacts gene expression in a cell type-dependent manner.
Dimas AS, Deutsch S ... Deloukas P, Dermitzakis ET, Antonarakis SE.
Science. 2009 Sep 4;325(5945):1246-50. doi: 10.1126/science.1174148. Epub 2009 Jul 30.

52. A genome-wide association study of testicular germ cell tumor.
Rapley EA, Turnbull C, Al Olama AA, Dermitzakis ET, Linger R ...
Nat Genet. 2009 Jul;41(7):807-10. doi: 10.1038/ng.394. Epub 2009 May 31.

51. Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
Soranzo N, Rivadeneira F, Chinappen-Horsley U, Malkina I, Richards JB ...
PLoS Genet. 2009 Apr;5(4):e1000445. doi: 10.1371/journal.pgen.1000445. Epub 2009 Apr 3.

50. Gene expression levels are a target of recent natural selection in the human genome.
Kudaravalli S, Veyrieras JB, Stranger BE, Dermitzakis ET, Pritchard JK.
Mol Biol Evol. 2009 Mar;26(3):649-58. doi: 10.1093/molbev/msn289. Epub 2008 Dec 17.

49. Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells.
Attanasio C, Reymond A ... Dermitzakis ET, Antonarakis SE, Stamatoyannopoulos JA.
Genome Biol. 2008;9(12):R168. doi: 10.1186/gb-2008-9-12-r168. Epub 2008 Dec 2.

48. Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines.
Choy E, Yelensky R ... Dermitzakis ET ... Daly MJ, Altshuler D.
PLoS Genet. 2008 Nov;4(11):e1000287. doi: 10.1371/journal.pgen.1000287. Epub 2008 Nov 28.

47. Modifier effects between regulatory and protein-coding variation.
Dimas AS, Stranger BE ... Deloukas P, Tavaré S, Dermitzakis ET.
PLoS Genet. 2008 Oct;4(10):e1000244. doi: 10.1371/journal.pgen.1000244. Epub 2008 Oct 31.

46. Using gene expression to investigate the genetic basis of complex disorders.
Nica AC, Dermitzakis ET.
Hum Mol Genet. 2008 Oct 15;17(R2):R129-34. doi: 10.1093/hmg/ddn285. Review.

45. High-resolution mapping of expression-QTLs yields insight into human gene regulation.
Veyrieras JB, Kudaravalli S, Kim SY, Dermitzakis ET, Gilad Y ...
PLoS Genet. 2008 Oct;4(10):e1000214. doi: 10.1371/journal.pgen.1000214. Epub 2008 Oct 10.

44. Common variants near MC4R are associated with fat mass, weight and risk of obesity.
Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH ...
Nat Genet. 2008 Jun;40(6):768-75. doi: 10.1038/ng.140. Epub 2008 May 4.

43. From gene expression to disease risk.
Dermitzakis ET.
Nat Genet. 2008 May;40(5):492-3. doi: 10.1038/ng0508-492. No abstract available.

42. Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.
Micale L, Fusco C, Augello B, Napolitano LM, Dermitzakis ET ...
Eur J Hum Genet. 2008 Sep;16(9):1038-49. doi: 10.1038/ejhg.2008.68. Epub 2008 Apr 9.

41. The functional impact of structural variation in humans.
Hurles ME, Dermitzakis ET, Tyler-Smith C.
Trends Genet. 2008 May;24(5):238-45. doi: 10.1016/j.tig.2008.03.001. Epub 2008 Apr 2. Review.

40. Regulatory variation and evolution: implications for disease.
Dermitzakis ET.
Adv Genet. 2008;61:295-306. doi: 10.1016/S0065-2660(07)00011-9. Review.

39. Large-scale population study of human cell lines indicates that dosage compensation is virtually complete.
Johnston CM, Lovell FL, Leongamornlert DA, Stranger BE, Dermitzakis ET ...
PLoS Genet. 2008 Jan;4(1):e9. doi: 10.1371/journal.pgen.0040009. Epub 2007 Dec 13.

38. Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.
Marioni JC, Thorne NP ... Dermitzakis ET ... Tavaré S, Hurles ME.
Genome Biol. 2007;8(10):R228.

37. Genome-wide detection and characterization of positive selection in human populations.
Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E ...
Nature. 2007 Oct 18;449(7164):913-8.

36. A second generation human haplotype map of over 3.1 million SNPs.
International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA ...
Nature. 2007 Oct 18;449(7164):851-61.

35. Population genomics of human gene expression.
Stranger BE, Nica AC ... Tavaré S, Deloukas P, Dermitzakis ET.
Nat Genet. 2007 Oct;39(10):1217-24. Epub 2007 Sep 16.

34. Fast-evolving noncoding sequences in the human genome.
Bird CP, Stranger BE ... Miller W, Hurles ME, Dermitzakis ET.
Genome Biol. 2007;8(6):R118.

33. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.
ENCODE Project Consortium, Birney E ... Dermitzakis ET ... Boyle PJ, et al.
Nature. 2007 Jun 14;447(7146):799-816.

32. Relative impact of nucleotide and copy number variation on gene expression phenotypes.
Stranger BE, Forrest MS ... Deloukas P, Hurles ME, Dermitzakis ET.
Science. 2007 Feb 9;315(5813):848-53.

31. Genome variation and evolution of the malaria parasite Plasmodium falciparum.
Jeffares DC, Pain A ... Newbold C, Dermitzakis ET, Berriman M.
Nat Genet. 2007 Jan;39(1):120-5. Epub 2006 Dec 10.

30. Functional variation and evolution of non-coding DNA.
Bird CP, Stranger BE, Dermitzakis ET.
Curr Opin Genet Dev. 2006 Dec;16(6):559-64. Epub 2006 Oct 19. Review.

29. From DNA to RNA to disease and back: the 'central dogma' of regulatory disease variation.
Stranger BE, Dermitzakis ET.
Hum Genomics. 2006 Jun;2(6):383-90. Review.

28. Genetic variation in human gene expression.
Dermitzakis ET, Stranger BE.
Mamm Genome. 2006 Jun;17(6):503-8. Epub 2006 Jun 12. Review.

27. Conserved noncoding sequences are selectively constrained and not mutation cold spots.
Drake JA, Bird C ... Antonarakis SE, Dermitzakis ET, Hirschhorn JN.
Nat Genet. 2006 Feb;38(2):223-7. Epub 2005 Dec 25.

26. Genome-wide associations of gene expression variation in humans.
Stranger BE, Forrest MS ... Tavaré S, Deloukas P, Dermitzakis ET.
PLoS Genet. 2005 Dec;1(6):e78. Epub 2005 Dec 16.

25. Tandem chimerism as a means to increase protein complexity in the human genome.
Parra G, Reymond A, Dabbouseh N, Dermitzakis ET, Castelo R ...
Genome Res. 2006 Jan;16(1):37-44. Epub 2005 Dec 12.

24. Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes.
Deutsch S, Lyle R, Dermitzakis ET, Attar H, Subrahmanyan L ...
Hum Mol Genet. 2005 Dec 1;14(23):3741-9. Epub 2005 Oct 26.

23. Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
Bonafé L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA ...
PLoS Genet. 2005 Oct;1(4):e47.

22. The genetics of regulatory variation in the human genome.
Stranger BE, Dermitzakis ET.
Hum Genomics. 2005 Jun;2(2):126-31. Review.

21. Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains.
Adams DJ, Dermitzakis ET, Cox T, Smith J, Davies R ...
Nat Genet. 2005 May;37(5):532-6. Epub 2005 Apr 24.

20. Conserved non-genic sequences - an unexpected feature of mammalian genomes.
Dermitzakis ET, Reymond A, Antonarakis SE.
Nat Rev Genet. 2005 Feb;6(2):151-7. Review.

19. HbO-Arab mutation originated in the Pomak population of Greek Thrace.
Papadopoulos V, Dermitzakis E, Konstantinidou D, Petridis D, Xanthopoulidis G ...
Haematologica. 2005 Feb;90(2):255-7.

18. Chromosome 21 and down syndrome: from genomics to pathophysiology.
Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S.
Nat Rev Genet. 2004 Oct;5(10):725-38. Review.

17. Chromosome 21 and Down syndrome: the post-sequence era.
Antonarakis SE, Reymond A, Lyle R, Deutsch S, Dermitzakis ET.
Cold Spring Harb Symp Quant Biol. 2003;68:425-30. No abstract available.

16. 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.
Dermitzakis ET, Kirkness E, Schwarz S, Birney E, Reymond A ...
Genome Res. 2004 May;14(5):852-9. Epub 2004 Apr 12.

15. 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.
Ferrari SL, Deutsch S ... Dermitzakis ET, Rizzoli R, Antonarakis SE.
Am J Hum Genet. 2004 May;74(5):866-75. Epub 2004 Apr 7.

14. Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).
Dermitzakis ET, Reymond A, Scamuffa N, Ucla C, Kirkness E ...
Science. 2003 Nov 7;302(5647):1033-5. Epub 2003 Oct 2.

13. Tracing the evolutionary history of Drosophila regulatory regions with models that identify transcription factor binding sites.
Dermitzakis ET, Bergman CM, Clark AG.
Mol Biol Evol. 2003 May;20(5):703-14. Epub 2003 Apr 2.

12. Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes.
Guigo R, Dermitzakis ET, Agarwal P, Ponting CP, Parra G ...
Proc Natl Acad Sci U S A. 2003 Feb 4;100(3):1140-5. Epub 2003 Jan 27.

11. Human chromosome 21 gene expression atlas in the mouse.
Reymond A, Marigo V ... Dermitzakis ET ... Antonarakis SE, Ballabio A.
Nature. 2002 Dec 5;420(6915):582-6.

10. Numerous potentially functional but non-genic conserved sequences on human chromosome 21.
Dermitzakis ET, Reymond A, Lyle R, Scamuffa N, Ucla C ...
Nature. 2002 Dec 5;420(6915):578-82.

9. Initial sequencing and comparative analysis of the mouse genome.
Mouse Genome Sequencing Consortium, Waterston RH, Lindblad-Toh K, Birney E, Rogers J ...
Nature. 2002 Dec 5;420(6915):520-62.

8. Evolution of transcription factor binding sites in Mammalian gene regulatory regions: conservation and turnover.
Dermitzakis ET, Clark AG.
Mol Biol Evol. 2002 Jul;19(7):1114-21.

7. ZNF232: structure and expression analysis of a novel human C(2)H(2) zinc finger gene, member of the SCAN/LeR domain subfamily.
Mavrogiannis LA, Argyrokastritis A, Tzitzikas N, Dermitzakis E, Sarafidou T ...
Biochim Biophys Acta. 2001 Apr 16;1518(3):300-5.

6. Differential selection after duplication in mammalian developmental genes.
Dermitzakis ET, Clark AG.
Mol Biol Evol. 2001 Apr;18(4):557-62.

5. Comparison of genetic variability and parentage in different ploidy classes of the Japanese oyster Crassostrea gigas.
Magoulas A, Kotoulas G, Gérard A, Naciri-Graven Y, Dermitzakis E ...
Genet Res. 2000 Dec;76(3):261-72.

4. Nontransitivity of sperm precedence in Drosophila.
Clark AG, Dermitzakis ET, Civetta A.
Evolution. 2000 Jun;54(3):1030-5.

3. Non-Mendelian segregation of sex chromosomes in heterospecific Drosophila males.
Dermitzakis ET, Masly JP, Waldrip HM, Clark AG.
Genetics. 2000 Feb;154(2):687-94.

2. Characterization of six polymorphic microsatellite markers in gilthead seabream, Sparus aurata (Linnaeus 1758).
Batargias C, Dermitzakis E, Magoulas A, Zouros E.
Mol Ecol. 1999 May;8(5):897-8. No abstract available.

1. Negative covariance suggests mutation bias in a two-locus microsatellite system in the fish Sparus aurata.
Dermitzakis ET, Clark AG, Batargias C, Magoulas A, Zouros E.
Genetics. 1998 Dec;150(4):1567-75.