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Items: 1 to 50 of 71

1.

Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition.

Small KS, Todorčević M, Civelek M, El-Sayed Moustafa JS, Wang X, Simon MM, Fernandez-Tajes J, Mahajan A, Horikoshi M, Hugill A, Glastonbury CA, Quaye L, Neville MJ, Sethi S, Yon M, Pan C, Che N, Viñuela A, Tsai PC, Nag A, Buil A, Thorleifsson G, Raghavan A, Ding Q, Morris AP, Bell JT, Thorsteinsdottir U, Stefansson K, Laakso M, Dahlman I, Arner P, Gloyn AL, Musunuru K, Lusis AJ, Cox RD, Karpe F, McCarthy MI.

Nat Genet. 2018 Apr;50(4):572-580. doi: 10.1038/s41588-018-0088-x. Epub 2018 Apr 9.

PMID:
29632379
2.

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap.

Gandal MJ, Haney JR, Parikshak NN, Leppa V, Ramaswami G, Hartl C, Schork AJ, Appadurai V, Buil A, Werge TM, Liu C, White KP; CommonMind Consortium; PsychENCODE Consortium; iPSYCH-BROAD Working Group, Horvath S, Geschwind DH.

Science. 2018 Feb 9;359(6376):693-697. doi: 10.1126/science.aad6469.

3.

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.

4.

[An innovative position during skin-to-skin contact in neonatology].

Buil A, Renault N, Boulonnois É, Apter G, Devouche E.

Soins Pediatr Pueric. 2017 Nov - Dec;38(299):36-39. doi: 10.1016/j.spp.2017.09.008. French.

PMID:
29162258
5.

[Supporting the establishment of the parent-child bond in cases of prematurity].

Devouche E, Buil A, Genet MC, Bobin-Bègue A, Apter G.

Soins Pediatr Pueric. 2017 Nov - Dec;38(299):15-19. doi: 10.1016/j.spp.2017.09.003. French.

PMID:
29162253
6.

diffuStats: an R package to compute diffusion-based scores on biological networks.

Picart-Armada S, Thompson WK, Buil A, Perera-Lluna A.

Bioinformatics. 2018 Feb 1;34(3):533-534. doi: 10.1093/bioinformatics/btx632.

PMID:
29029016
7.

Differential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome.

Starnawska A, Hansen CS, Sparsø T, Mazin W, Olsen L, Bertalan M, Buil A, Bybjerg-Grauholm J, Bækvad-Hansen M, Hougaard DM, Mortensen PB, Pedersen CB, Nyegaard M, Werge T, Weinsheimer S.

Transl Psychiatry. 2017 Aug 29;7(8):e1221. doi: 10.1038/tp.2017.181.

8.

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.

9.

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.

10.

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.

11.

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.

12.

Tensor decomposition for multiple-tissue gene expression experiments.

Hore V, Viñuela A, Buil A, Knight J, McCarthy MI, Small K, Marchini J.

Nat Genet. 2016 Sep;48(9):1094-100. doi: 10.1038/ng.3624. Epub 2016 Aug 1.

13.

Kangaroo supported diagonal flexion positioning: New insights into skin-to-skin contact for communication between mothers and very preterm infants.

Buil A, Carchon I, Apter G, Laborne FX, Granier M, Devouche E.

Arch Pediatr. 2016 Sep;23(9):913-20. doi: 10.1016/j.arcped.2016.04.023. Epub 2016 Jul 4.

PMID:
27388909
14.

solarius: an R interface to SOLAR for variance component analysis in pedigrees.

Ziyatdinov A, Brunel H, Martinez-Perez A, Buil A, Perera A, Soria JM.

Bioinformatics. 2016 Jun 15;32(12):1901-2. doi: 10.1093/bioinformatics/btw080. Epub 2016 Feb 15.

PMID:
27153684
15.

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.

16.

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P, Khor CC, Burdon KP, Aschard H, Chasman DI, Igo RP Jr, Hysi PG, Glastonbury CA, Ashley-Koch A, Brilliant M, Brown AA, Budenz DL, Buil A, Cheng CY, Choi H, Christen WG, Curhan G, De Vivo I, Fingert JH, Foster PJ, Fuchs C, Gaasterland D, Gaasterland T, Hewitt AW, Hu F, Hunter DJ, Khawaja AP, Lee RK, Li Z, Lichter PR, Mackey DA, McGuffin P, Mitchell P, Moroi SE, Perera SA, Pepper KW, Qi Q, Realini T, Richards JE, Ridker PM, Rimm E, Ritch R, Ritchie M, Schuman JS, Scott WK, Singh K, Sit AJ, Song YE, Tamimi RM, Topouzis F, Viswanathan AC, Verma SS, Vollrath D, Wang JJ, Weisschuh N, Wissinger B, Wollstein G, Wong TY, Yaspan BL, Zack DJ, Zhang K, Study EN; ANZRAG Consortium, Weinreb RN, Pericak-Vance MA, Small K, Hammond CJ, Aung T, Liu Y, Vithana EN, MacGregor S, Craig JE, Kraft P, Howell G, Hauser MA, Pasquale LR, Haines JL, Wiggs JL.

Nat Genet. 2016 Feb;48(2):189-94. doi: 10.1038/ng.3482. Epub 2016 Jan 11.

17.

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.

18.

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.

19.

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.

20.

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.

21.

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.

22.

Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation.

Tsaprouni LG, Yang TP, Bell J, Dick KJ, Kanoni S, Nisbet J, Viñuela A, Grundberg E, Nelson CP, Meduri E, Buil A, Cambien F, Hengstenberg C, Erdmann J, Schunkert H, Goodall AH, Ouwehand WH, Dermitzakis E, Spector TD, Samani NJ, Deloukas P.

Epigenetics. 2014 Oct;9(10):1382-96. doi: 10.4161/15592294.2014.969637.

23.

A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.

López S, Buil A, Souto JC, Casademont J, Martinez-Perez A, Almasy L, Soria JM.

Mitochondrion. 2014 Sep;18:34-40. doi: 10.1016/j.mito.2014.09.004. Epub 2014 Sep 18.

PMID:
25240745
24.

Circulating Proteomic Signatures of Chronological Age.

Menni C, Kiddle SJ, Mangino M, Viñuela A, Psatha M, Steves C, Sattlecker M, Buil A, Newhouse S, Nelson S, Williams S, Voyle N, Soininen H, Kloszewska I, Mecocci P, Tsolaki M, Vellas B, Lovestone S, Spector TD, Dobson R, Valdes AM.

J Gerontol A Biol Sci Med Sci. 2015 Jul;70(7):809-16. doi: 10.1093/gerona/glu121. Epub 2014 Aug 14.

25.

A genomewide study of body mass index and its genetic correlation with thromboembolic risk. Results from the GAIT project.

Souto JC, Pena G, Ziyatdinov A, Buil A, López S, Fontcuberta J, Soria JM.

Thromb Haemost. 2014 Nov;112(5):1036-43. doi: 10.1160/TH14-03-0275. Epub 2014 Aug 14.

PMID:
25118907
26.

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.

27.

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.

28.

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, Sandling JK, Hedman AK, Keildson S, Buil A, Busche S, Yuan W, Nisbet J, Sekowska M, Wilk A, Barrett A, Small KS, Ge B, Caron M, Shin SY; Multiple Tissue Human Expression Resource Consortium, Lathrop M, Dermitzakis ET, McCarthy MI, Spector TD, Bell JT, Deloukas P.

Am J Hum Genet. 2013 Nov 7;93(5):876-90. doi: 10.1016/j.ajhg.2013.10.004. Epub 2013 Oct 31. Erratum in: Am J Hum Genet. 2013 Dec 5;93(6):1158.

29.

Gene expression changes with age in skin, adipose tissue, blood and brain.

Glass D, Viñuela A, Davies MN, Ramasamy A, Parts L, Knowles D, Brown AA, Hedman AK, Small KS, Buil A, Grundberg E, Nica AC, Di Meglio P, Nestle FO, Ryten M; UK Brain Expression consortium; MuTHER consortium, Durbin R, McCarthy MI, Deloukas P, Dermitzakis ET, Weale ME, Bataille V, Spector TD.

Genome Biol. 2013 Jul 26;14(7):R75. doi: 10.1186/gb-2013-14-7-r75.

30.

Passive and active DNA methylation and the interplay with genetic variation in gene regulation.

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

Elife. 2013 Jun 4;2:e00523. doi: 10.7554/eLife.00523. Erratum in: Elife. 2013;2:e01045.

31.

Identification of antithrombin-modulating genes. Role of LARGE, a gene encoding a bifunctional glycosyltransferase, in the secretion of proteins?

de la Morena-Barrio ME, Buil A, Antón AI, Martínez-Martínez I, Miñano A, Gutiérrez-Gallego R, Navarro-Fernández J, Aguila S, Souto JC, Vicente V, Soria JM, Corral J.

PLoS One. 2013 May 21;8(5):e64998. doi: 10.1371/journal.pone.0064998. Print 2013.

32.

Identification of a novel quantitative trait nucleotype related to iron status in a calcium channel gene.

Baeza-Richer C, Blanco-Rojo R, López-Parra AM, Brichs A, Bertoncini S, Pérez-Granados AM, Buil A, Soria JM, Arroyo-Pardo E, Vaquero MP.

Dis Markers. 2013;34(2):121-9. doi: 10.3233/DMA-120951.

33.

Genetic determinants of plasma β₂-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain.

Athanasiadis G, Sabater-Lleal M, Buil A, Souto JC, Borrell M, Lathrop M, Watkins H, Almasy L, Hamsten A, Soria JM.

J Thromb Haemost. 2013 Mar;11(3):521-8. doi: 10.1111/jth.12120.

34.

Sex-biased genetic effects on gene regulation in humans.

Dimas AS, Nica AC, Montgomery SB, Stranger BE, Raj T, Buil A, Giger T, Lappalainen T, Gutierrez-Arcelus M; MuTHER Consortium, McCarthy MI, Dermitzakis ET.

Genome Res. 2012 Dec;22(12):2368-75. doi: 10.1101/gr.134981.111. Epub 2012 Sep 7.

35.

Mapping cis- and trans-regulatory effects across multiple tissues in twins.

Grundberg E, Small KS, Hedman ÅK, Nica AC, Buil A, Keildson S, Bell JT, Yang TP, Meduri E, Barrett A, Nisbett J, Sekowska M, Wilk A, Shin SY, Glass D, Travers M, Min JL, Ring S, Ho K, Thorleifsson G, Kong A, Thorsteindottir U, Ainali C, Dimas AS, Hassanali N, Ingle C, Knowles D, Krestyaninova M, Lowe CE, Di Meglio P, Montgomery SB, Parts L, Potter S, Surdulescu G, Tsaprouni L, Tsoka S, Bataille V, Durbin R, Nestle FO, O'Rahilly S, Soranzo N, Lindgren CM, Zondervan KT, Ahmadi KR, Schadt EE, Stefansson K, Smith GD, McCarthy MI, Deloukas P, Dermitzakis ET, Spector TD; Multiple Tissue Human Expression Resource (MuTHER) Consortium.

Nat Genet. 2012 Oct;44(10):1084-9. doi: 10.1038/ng.2394. Epub 2012 Sep 2.

36.

Sex-specific regulation of mitochondrial DNA levels: genome-wide linkage analysis to identify quantitative trait loci.

López S, Buil A, Souto JC, Casademont J, Blangero J, Martinez-Perez A, Fontcuberta J, Lathrop M, Almasy L, Soria JM.

PLoS One. 2012;7(8):e42711. doi: 10.1371/journal.pone.0042711. Epub 2012 Aug 20.

37.

Genetic determinants of 5-lipoxygenase pathway in a Spanish population and their relationship with cardiovascular risk.

Camacho M, Martinez-Perez A, Buil A, Siguero L, Alcolea S, López S, Fontcuberta J, Souto JC, Vila L, Soria JM.

Atherosclerosis. 2012 Sep;224(1):129-35. doi: 10.1016/j.atherosclerosis.2012.07.001. Epub 2012 Jul 13.

PMID:
22835628
38.

A genome-wide association study identifies KNG1 as a genetic determinant of plasma factor XI Level and activated partial thromboplastin time.

Sabater-Lleal M, Martinez-Perez A, Buil A, Folkersen L, Souto JC, Bruzelius M, Borrell M, Odeberg J, Silveira A, Eriksson P, Almasy L, Hamsten A, Soria JM.

Arterioscler Thromb Vasc Biol. 2012 Aug;32(8):2008-16. doi: 10.1161/ATVBAHA.112.248492. Epub 2012 Jun 14.

39.

A genome-wide association study of the Protein C anticoagulant pathway.

Athanasiadis G, Buil A, Souto JC, Borrell M, López S, Martinez-Perez A, Lathrop M, Fontcuberta J, Almasy L, Soria JM.

PLoS One. 2011;6(12):e29168. doi: 10.1371/journal.pone.0029168. Epub 2011 Dec 28.

40.

Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women.

Blanco-Rojo R, Baeza-Richer C, López-Parra AM, Pérez-Granados AM, Brichs A, Bertoncini S, Buil A, Arroyo-Pardo E, Soria JM, Vaquero MP.

Nutr Metab (Lond). 2011 Oct 6;8:69. doi: 10.1186/1743-7075-8-69.

41.

MISS: a non-linear methodology based on mutual information for genetic association studies in both population and sib-pairs analysis.

Brunel H, Gallardo-Chacón JJ, Buil A, Vallverdú M, Soria JM, Caminal P, Perera A.

Bioinformatics. 2010 Aug 1;26(15):1811-8. doi: 10.1093/bioinformatics/btq273. Epub 2010 Jun 18.

PMID:
20562420
42.

C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies.

Buil A, Trégouët DA, Souto JC, Saut N, Germain M, Rotival M, Tiret L, Cambien F, Lathrop M, Zeller T, Alessi MC, Rodriguez de Cordoba S, Münzel T, Wild P, Fontcuberta J, Gagnon F, Emmerich J, Almasy L, Blankenberg S, Soria JM, Morange PE.

Blood. 2010 Jun 10;115(23):4644-50. doi: 10.1182/blood-2010-01-263038. Epub 2010 Mar 8.

43.

A new gene-based association test for genome-wide association studies.

Buil A, Martinez-Perez A, Perera-Lluna A, Rib L, Caminal P, Soria JM.

BMC Proc. 2009 Dec 15;3 Suppl 7:S130.

44.

Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels.

Calafell F, Almasy L, Sabater-Lleal M, Buil A, Mordillo C, Ramírez-Soriano A, Sikora M, Souto JC, Blangero J, Fontcuberta J, Soria JM.

Hum Mol Genet. 2010 Feb 1;19(3):517-25. doi: 10.1093/hmg/ddp517. Epub 2009 Nov 23.

45.

Heritability of thromboxane A2 and prostaglandin E2 biosynthetic machinery in a Spanish population.

Vila L, Martinez-Perez A, Camacho M, Buil A, Alcolea S, Pujol-Moix N, Soler M, Antón R, Souto JC, Fontcuberta J, Soria JM.

Arterioscler Thromb Vasc Biol. 2010 Jan;30(1):128-34. doi: 10.1161/ATVBAHA.109.193219. Epub 2009 Oct 22.

46.

Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study.

Mälarstig A, Buil A, Souto JC, Clarke R, Blanco-Vaca F, Fontcuberta J, Peden J, Andersen M, Silveira A, Barlera S, Seedorf U, Watkins H, Almasy L, Hamsten A, Soria JM; Genetic Analysis of Idiopathic Thrombophilia (GAIT) and Precocious Coronary Artery Disease (PROCARDIS) consortia.

Blood. 2009 Aug 13;114(7):1417-22. doi: 10.1182/blood-2009-04-215269. Epub 2009 Jun 12.

47.

SNP sets selection under mutual information criterion, application to F7/FVII dataset.

Brunel H, Perera A, Buil A, Sabater-Lleal M, Souto JC, Fontcuberta J, Vallverdu M, Soria JM, Caminal P.

Conf Proc IEEE Eng Med Biol Soc. 2008;2008:3783-6. doi: 10.1109/IEMBS.2008.4650032.

PMID:
19163535
48.

Heritability of plasma concentrations of activated protein C in a Spanish population.

Soria JM, Navarro S, Medina P, Souto R, Buil A, Estellés A, Fontcuberta J, España F.

Blood Coagul Fibrinolysis. 2009 Jan;20(1):17-21. doi: 10.1097/MBC.0b013e3282f9ae25.

PMID:
19129726
49.

A genome-wide exploration suggests an oligogenic model of inheritance for the TAFI activity and its antigen levels.

Sabater-Lleal M, Buil A, Souto JC, Alamsy L, Borrell M, Lathrop M, Blangero J, Fontcuberta J, Soria JM.

Hum Genet. 2008 Aug;124(1):81-8. doi: 10.1007/s00439-008-0527-3. Epub 2008 Jun 18.

50.

Genome-wide linkage analysis for identifying quantitative trait loci involved in the regulation of lipoprotein a (Lpa) levels.

López S, Buil A, Ordoñez J, Souto JC, Almasy L, Lathrop M, Blangero J, Blanco-Vaca F, Fontcuberta J, Soria JM.

Eur J Hum Genet. 2008 Nov;16(11):1372-9. doi: 10.1038/ejhg.2008.114. Epub 2008 Jun 18.

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