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Items: 1 to 50 of 156

1.

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.

Kondelin J, Salokas K, Saarinen L, Ovaska K, Rauanheimo H, Plaketti RM, Hamberg J, Liu X, Yadav L, Gylfe AE, Cajuso T, Hänninen UA, Palin K, Ristolainen H, Katainen R, Kaasinen E, Tanskanen T, Aavikko M, Taipale M, Taipale J, Renkonen-Sinisalo L, Lepistö A, Koskensalo S, Böhm J, Mecklin JP, Ongen H, Dermitzakis ET, Kilpivaara O, Vahteristo P, Turunen M, Hautaniemi S, Tuupanen S, Karhu A, Välimäki N, Varjosalo M, Pitkänen E, Aaltonen LA.

EMBO Mol Med. 2018 Aug 14. pii: e8552. doi: 10.15252/emmm.201708552. [Epub ahead of print]

2.

Angiogenin and Osteoprotegerin are type II muscle specific myokines protecting pancreatic beta-cells against proinflammatory cytokines.

Rutti S, Dusaulcy R, Hansen JS, Howald C, Dermitzakis ET, Pedersen BK, Pinget M, Plomgaard P, Bouzakri K.

Sci Rep. 2018 Jul 3;8(1):10072. doi: 10.1038/s41598-018-28117-2.

3.

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

Gamazon ER, Segrè AV, van de Bunt M, Wen X, Xi HS, Hormozdiari F, Ongen H, Konkashbaev A, Derks EM, Aguet F, Quan J; GTEx Consortium, Nicolae DL, Eskin E, Kellis M, Getz G, McCarthy MI, Dermitzakis ET, Cox NJ, Ardlie KG.

Nat Genet. 2018 Jul;50(7):956-967. doi: 10.1038/s41588-018-0154-4. Epub 2018 Jun 28.

PMID:
29955180
4.

Transcriptomic analyses reveal rhythmic and CLOCK-driven pathways in human skeletal muscle.

Perrin L, Loizides-Mangold U, Chanon S, Gobet C, Hulo N, Isenegger L, Weger BD, Migliavacca E, Charpagne A, Betts JA, Walhin JP, Templeman I, Stokes K, Thompson D, Tsintzas K, Robert M, Howald C, Riezman H, Feige JN, Karagounis LG, Johnston JD, Dermitzakis ET, Gachon F, Lefai E, Dibner C.

Elife. 2018 Apr 16;7. pii: e34114. doi: 10.7554/eLife.34114.

5.

Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing.

Stévant I, Neirijnck Y, Borel C, Escoffier J, Smith LB, Antonarakis SE, Dermitzakis ET, Nef S.

Cell Rep. 2018 Feb 6;22(6):1589-1599. doi: 10.1016/j.celrep.2018.01.043.

6.

Age-dependent changes in mean and variance of gene expression across tissues in a twin cohort.

Viñuela A, Brown AA, Buil A, Tsai PC, Davies MN, Bell JT, Dermitzakis ET, Spector TD, Small KS.

Hum Mol Genet. 2018 Feb 15;27(4):732-741. doi: 10.1093/hmg/ddx424.

7.

The effect of genetic variation on promoter usage and enhancer activity.

Garieri M, Delaneau O, Santoni F, Fish RJ, Mull D, Carninci P, Dermitzakis ET, Antonarakis SE, Fort A.

Nat Commun. 2017 Nov 7;8(1):1358. doi: 10.1038/s41467-017-01467-7.

8.

Estimating the causal tissues for complex traits and diseases.

Ongen H, Brown AA, Delaneau O, Panousis NI, Nica AC; GTEx Consortium, Dermitzakis ET.

Nat Genet. 2017 Dec;49(12):1676-1683. doi: 10.1038/ng.3981. Epub 2017 Oct 23.

PMID:
29058715
9.

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

Brown AA, Viñuela A, Delaneau O, Spector TD, Small KS, Dermitzakis ET.

Nat Genet. 2017 Dec;49(12):1747-1751. doi: 10.1038/ng.3979. Epub 2017 Oct 23.

PMID:
29058714
10.

MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.

Masotti C, Brito LA, Nica AC, Ludwig KU, Nunes K, Savastano CP, Malcher C, Ferreira SG, Kobayashi GS, Bueno DF, Alonso N, Franco D, Rojas-Martinez A, Dos Santos SE, Galante PA, Meyer D, Hünemeier T, Mangold E, Dermitzakis ET, Passos-Bueno MR.

J Dent Res. 2018 Jan;97(1):33-40. doi: 10.1177/0022034517735805. Epub 2017 Oct 20.

PMID:
29053389
11.

Genetic correlations reveal the shared genetic architecture of transcription in human peripheral blood.

Lukowski SW, Lloyd-Jones LR, Holloway A, Kirsten H, Hemani G, Yang J, Small K, Zhao J, Metspalu A, Dermitzakis ET, Gibson G, Spector TD, Thiery J, Scholz M, Montgomery GW, Esko T, Visscher PM, Powell JE.

Nat Commun. 2017 Sep 7;8(1):483. doi: 10.1038/s41467-017-00473-z.

12.

The genomic landscape of human cellular circadian variation points to a novel role for the signalosome.

Gaspar L, Howald C, Popadin K, Maier B, Mauvoisin D, Moriggi E, Gutierrez-Arcelus M, Falconnet E, Borel C, Kunz D, Kramer A, Gachon F, Dermitzakis ET, Antonarakis SE, Brown SA.

Elife. 2017 Sep 4;6. pii: e24994. doi: 10.7554/eLife.24994.

13.

Inference and quantification of peptidoforms in large sample cohorts by SWATH-MS.

Rosenberger G, Liu Y, Röst HL, Ludwig C, Buil A, Bensimon A, Soste M, Spector TD, Dermitzakis ET, Collins BC, Malmström L, Aebersold R.

Nat Biotechnol. 2017 Aug;35(8):781-788. doi: 10.1038/nbt.3908. Epub 2017 Jun 12.

14.

A complete tool set for molecular QTL discovery and analysis.

Delaneau O, Ongen H, Brown AA, Fort A, Panousis NI, Dermitzakis ET.

Nat Commun. 2017 May 18;8:15452. doi: 10.1038/ncomms15452.

15.

Molecular-Subtype-Specific Biomarkers Improve Prediction of Prognosis in Colorectal Cancer.

Bramsen JB, Rasmussen MH, Ongen H, Mattesen TB, Ørntoft MW, Árnadóttir SS, Sandoval J, Laguna T, Vang S, Øster B, Lamy P, Madsen MR, Laurberg S, Esteller M, Dermitzakis ET, Ørntoft TF, Andersen CL.

Cell Rep. 2017 May 9;19(6):1268-1280. doi: 10.1016/j.celrep.2017.04.045.

16.

Time-dependent genetic effects on gene expression implicate aging processes.

Bryois J, Buil A, Ferreira PG, Panousis NI, Brown AA, Viñuela A, Planchon A, Bielser D, Small K, Spector T, Dermitzakis ET.

Genome Res. 2017 Apr;27(4):545-552. doi: 10.1101/gr.207688.116. Epub 2017 Mar 16.

17.

The non-coding variant rs1800734 enhances DCLK3 expression through long-range interaction and promotes colorectal cancer progression.

Liu NQ, Ter Huurne M, Nguyen LN, Peng T, Wang SY, Studd JB, Joshi O, Ongen H, Bramsen JB, Yan J, Andersen CL, Taipale J, Dermitzakis ET, Houlston RS, Hubner NC, Stunnenberg HG.

Nat Commun. 2017 Feb 14;8:14418. doi: 10.1038/ncomms14418.

18.

MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets.

Fort A, Panousis NI, Garieri M, Antonarakis SE, Lappalainen T, Dermitzakis ET, Delaneau O.

Bioinformatics. 2017 Jun 15;33(12):1895-1897. doi: 10.1093/bioinformatics/btx074.

19.

Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus.

Odhams CA, Cortini A, Chen L, Roberts AL, Viñuela A, Buil A, Small KS, Dermitzakis ET, Morris DL, Vyse TJ, Cunninghame Graham DS.

Hum Mol Genet. 2017 Mar 1;26(5):1003-1017. doi: 10.1093/hmg/ddw417.

20.

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.

Chen L, Ge B, Casale FP, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yan Y, Kundu K, Ecker S, Datta A, Richardson D, Burden F, Mead D, Mann AL, Fernandez JM, Rowlston S, Wilder SP, Farrow S, Shao X, Lambourne JJ, Redensek A, Albers CA, Amstislavskiy V, Ashford S, Berentsen K, Bomba L, Bourque G, Bujold D, Busche S, Caron M, Chen SH, Cheung W, Delaneau O, Dermitzakis ET, Elding H, Colgiu I, Bagger FO, Flicek P, Habibi E, Iotchkova V, Janssen-Megens E, Kim B, Lehrach H, Lowy E, Mandoli A, Matarese F, Maurano MT, Morris JA, Pancaldi V, Pourfarzad F, Rehnstrom K, Rendon A, Risch T, Sharifi N, Simon MM, Sultan M, Valencia A, Walter K, Wang SY, Frontini M, Antonarakis SE, Clarke L, Yaspo ML, Beck S, Guigo R, Rico D, Martens JHA, Ouwehand WH, Kuijpers TW, Paul DS, Stunnenberg HG, Stegle O, Downes K, Pastinen T, Soranzo N.

Cell. 2016 Nov 17;167(5):1398-1414.e24. doi: 10.1016/j.cell.2016.10.026.

21.

Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes.

Glastonbury CA, Viñuela A, Buil A, Halldorsson GH, Thorleifsson G, Helgason H, Thorsteinsdottir U, Stefansson K, Dermitzakis ET, Spector TD, Small KS.

Am J Hum Genet. 2016 Sep 1;99(3):567-579. doi: 10.1016/j.ajhg.2016.07.001.

22.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A.

Mol Psychiatry. 2017 Jun;22(6):836-849. doi: 10.1038/mp.2016.84. Epub 2016 May 31.

23.

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, Ziemek D, Martinez-Perez A, Malik R, Folkersen L, Germain M, Mälarstig A, Brown A, Soria JM, Dichgans M, Bing N, Franco-Cereceda A, Souto JC, Dermitzakis ET, Hamsten A, Worrall BB, Tung JY; METASTROKE Consortium, INVENT Consortium, Sabater-Lleal M.

Hum Mol Genet. 2016 May 1;25(9):1867-74. doi: 10.1093/hmg/ddw037. Epub 2016 Feb 9.

24.

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.

25.

A functional circadian clock is required for proper insulin secretion by human pancreatic islet cells.

Saini C, Petrenko V, Pulimeno P, Giovannoni L, Berney T, Hebrok M, Howald C, Dermitzakis ET, Dibner C.

Diabetes Obes Metab. 2016 Apr;18(4):355-65. doi: 10.1111/dom.12616. Epub 2016 Jan 22.

PMID:
26662378
26.

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, Dai X, Barrett A, Grey C, Li L, Bennett AJ, Johnson PR, Rajotte RV, Gaulton KJ, Dermitzakis ET, MacDonald PE, McCarthy MI, Gloyn AL.

PLoS Genet. 2015 Dec 1;11(12):e1005694. doi: 10.1371/journal.pgen.1005694. eCollection 2015 Dec.

27.

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.

28.

Population Variation and Genetic Control of Modular Chromatin Architecture in Humans.

Waszak SM, Delaneau O, Gschwind AR, Kilpinen H, Raghav SK, Witwicki RM, Orioli A, Wiederkehr M, Panousis NI, Yurovsky A, Romano-Palumbo L, Planchon A, Bielser D, Padioleau I, Udin G, Thurnheer S, Hacker D, Hernandez N, 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.

29.

Impaired Cell Cycle Regulation in a Natural Equine Model of Asthma.

Pacholewska A, Jagannathan V, Drögemüller M, Klukowska-Rötzler J, Lanz S, Hamza E, Dermitzakis ET, Marti E, Leeb T, Gerber V.

PLoS One. 2015 Aug 20;10(8):e0136103. doi: 10.1371/journal.pone.0136103. eCollection 2015.

30.

Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes.

Lukowski SW, Fish RJ, Martin-Levilain J, Gonelle-Gispert C, Bühler LH, Maechler P, Dermitzakis ET, Neerman-Arbez M.

Data Brief. 2015 Jun 10;4:226-8. doi: 10.1016/j.dib.2015.05.023. eCollection 2015 Sep.

31.

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.

32.

Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes.

Lukowski SW, Fish RJ, Martin-Levilain J, Gonelle-Gispert C, Bühler LH, 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.

33.

Sharing and Specificity of Co-expression Networks across 35 Human Tissues.

Pierson E; GTEx Consortium, Koller D, Battle A, Mostafavi S, Ardlie KG, Getz G, Wright FA, Kellis M, Volpi S, Dermitzakis ET.

PLoS Comput Biol. 2015 May 13;11(5):e1004220. doi: 10.1371/journal.pcbi.1004220. eCollection 2015 May.

34.

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.

Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J; GTEx Consortium; Geuvadis Consortium, Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG.

Science. 2015 May 8;348(6235):666-9. doi: 10.1126/science.1261877.

35.

Human genomics. The human transcriptome across tissues and individuals.

Melé M, Ferreira PG, Reverter F, DeLuca DS, Monlong J, Sammeth M, Young TR, Goldmann JM, Pervouchine DD, Sullivan TJ, Johnson R, Segrè AV, Djebali S, Niarchou A; GTEx Consortium, Wright FA, Lappalainen T, Calvo M, Getz G, Dermitzakis ET, Ardlie KG, Guigó R.

Science. 2015 May 8;348(6235):660-5. doi: 10.1126/science.aaa0355.

36.

Assessing allele-specific expression across multiple tissues from RNA-seq read data.

Pirinen M, Lappalainen T, Zaitlen NA; GTEx Consortium, Dermitzakis ET, Donnelly P, McCarthy MI, Rivas MA.

Bioinformatics. 2015 Aug 1;31(15):2497-504. doi: 10.1093/bioinformatics/btv074. Epub 2015 Mar 27.

37.

The transcriptome of equine peripheral blood mononuclear cells.

Pacholewska A, Drögemüller M, Klukowska-Rötzler J, Lanz S, Hamza E, Dermitzakis ET, Marti E, Gerber V, Leeb T, Jagannathan V.

PLoS One. 2015 Mar 19;10(3):e0122011. doi: 10.1371/journal.pone.0122011. eCollection 2015. Erratum in: PLoS One. 2015;10(4):e0127372.

38.

Quantitative variability of 342 plasma proteins in a human twin population.

Liu Y, Buil A, Collins BC, Gillet LC, Blum LC, Cheng LY, Vitek O, Mouritsen J, Lachance G, Spector TD, Dermitzakis ET, Aebersold R.

Mol Syst Biol. 2015 Feb 4;11(1):786. doi: 10.15252/msb.20145728.

39.

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.

Gutierrez-Arcelus M, Ongen H, Lappalainen T, Montgomery SB, Buil A, Yurovsky A, Bryois J, Padioleau I, Romano L, Planchon A, Falconnet E, Bielser D, Gagnebin M, Giger T, Borel C, Letourneau A, Makrythanasis P, Guipponi M, Gehrig C, Antonarakis SE, Dermitzakis ET.

PLoS Genet. 2015 Jan 29;11(1):e1004958. doi: 10.1371/journal.pgen.1004958. eCollection 2015 Jan.

40.

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. Erratum in: J Biol Chem. 2015 Jun 5;290(23):14491.

41.

Biased allelic expression in human primary fibroblast single cells.

Borel C, Ferreira PG, Santoni F, Delaneau O, Fort A, Popadin KY, Garieri M, Falconnet E, Ribaux P, Guipponi M, Padioleau I, 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.

42.

Gene age predicts the strength of purifying selection acting on gene expression variation in humans.

Popadin KY, Gutierrez-Arcelus M, Lappalainen T, Buil A, Steinberg J, Nikolaev SI, Lukowski SW, Bazykin GA, Seplyarskiy VB, Ioannidis P, 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.

43.

Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins.

Buil A, Brown AA, Lappalainen T, Viñuela A, Davies MN, Zheng HF, Richards JB, Glass D, Small KS, Durbin R, Spector TD, Dermitzakis ET.

Nat Genet. 2015 Jan;47(1):88-91. doi: 10.1038/ng.3162. Epub 2014 Dec 1.

44.

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.

45.

Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants.

Greger L, Su J, Rung J, Ferreira PG; Geuvadis consortium, Lappalainen T, Dermitzakis ET, Brazma A.

PLoS One. 2014 Aug 18;9(8):e104567. doi: 10.1371/journal.pone.0104567. eCollection 2014.

46.

Putative cis-regulatory drivers in colorectal cancer.

Ongen H, Andersen CL, Bramsen JB, Oster B, Rasmussen MH, Ferreira PG, Sandoval J, Vidal E, Whiffin N, Planchon A, Padioleau I, Bielser D, Romano L, Tomlinson I, Houlston RS, Esteller M, Orntoft TF, Dermitzakis ET.

Nature. 2014 Aug 7;512(7512):87-90. doi: 10.1038/nature13602. Epub 2014 Jul 23.

PMID:
25079323
47.

Cis and trans effects of human genomic variants on gene expression.

Bryois J, Buil A, Evans DM, Kemp JP, Montgomery SB, Conrad DF, Ho KM, Ring S, Hurles M, Deloukas P, Davey Smith G, Dermitzakis ET.

PLoS Genet. 2014 Jul 10;10(7):e1004461. doi: 10.1371/journal.pgen.1004461. eCollection 2014 Jul.

48.

Genetic interactions affecting human gene expression identified by variance association mapping.

Brown AA, Buil A, Viñuela A, Lappalainen T, Zheng HF, Richards JB, Small KS, Spector TD, Dermitzakis ET, Durbin R.

Elife. 2014 Apr 25;3:e01381. doi: 10.7554/eLife.01381.

49.

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, Davis EE.

Invest Ophthalmol Vis Sci. 2014 Apr 7;55(4):2121-9. doi: 10.1167/iovs.13-13827.

50.

High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.

Kurki MI, Gaál EI, Kettunen J, Lappalainen T, Menelaou A, Anttila V, van 't Hof FN, von Und Zu Fraunberg M, Helisalmi S, Hiltunen M, Lehto H, Laakso A, Kivisaari R, Koivisto T, Ronkainen A, Rinne J, Kiemeney LA, Vermeulen SH, Kaunisto MA, Eriksson JG, Aromaa A, Perola M, Lehtimäki T, Raitakari OT, Salomaa V, Gunel M, Dermitzakis ET, Ruigrok YM, Rinkel GJ, Niemelä M, Hernesniemi J, Ripatti S, de Bakker PI, Palotie A, Jääskeläinen JE.

PLoS Genet. 2014 Jan 30;10(1):e1004134. doi: 10.1371/journal.pgen.1004134. eCollection 2014 Jan.

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