Publications

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.
Okbay A, Baselmans BM, De Neve JE, Turley P, Nivard MG, Fontana MA, Meddens SF, Linnér RK, Rietveld CA, Derringer J, Gratten J, Lee JJ, Liu JZ, de Vlaming R, Ahluwalia TS, Buchwald J, Cavadino A, Frazier-Wood AC, Furlotte NA, Garfield V, Geisel MH, Gonzalez JR, Haitjema S, Karlsson R, van der Laan SW, Ladwig KH, Lahti J, van der Lee SJ, Lind PA, Liu T, Matteson L, Mihailov E, Miller MB, Minica CC, Nolte IM, Mook-Kanamori D, van der Most PJ, Oldmeadow C, Qian Y, Raitakari O, Rawal R, Realo A, Rueedi R, Schmidt B, Smith AV, Stergiakouli E, Tanaka T, Taylor K, Wedenoja J, Wellmann J, Westra HJ, Willems SM, Zhao W; LifeLines Cohort Study, Amin N, Bakshi A, Boyle PA, Cherney S, Cox SR, Davies G, Davis OS, Ding J, Direk N, Eibich P, Emeny RT, Fatemifar G, Faul JD, Ferrucci L, Forstner A, Gieger C, Gupta R, Harris TB, Harris JM, Holliday EG, Hottenga JJ, De Jager PL, Kaakinen MA, Kajantie E, Karhunen V, Kolcic I, Kumari M, Launer LJ, Franke L, Li-Gao R, Koini M, Loukola A, Marques-Vidal P, Montgomery GW, Mosing MA, Paternoster L, Pattie A, Petrovic KE, Pulkki-Råback L, Quaye L, Räikkönen K, Rudan I, Scott RJ, Smith JA, Sutin AR, Trzaskowski M, Vinkhuyzen AE, Yu L, Zabaneh D, Attia JR, Bennett DA, Berger K, Bertram L, Boomsma DI, Snieder H, Chang SC, Cucca F, Deary IJ, van Duijn CM, Eriksson JG, Bültmann U, de Geus EJ, Groenen PJ, Gudnason V, Hansen T, Hartman CA, Haworth CM, Hayward C, Heath AC, Hinds DA, Hyppönen E, Iacono WG, Järvelin MR, Jöckel KH, Kaprio J, Kardia SL, Keltikangas-Järvinen L, Kraft P, Kubzansky LD, Lehtimäki T, Magnusson PK, Martin NG, McGue M, Metspalu A, Mills M, de Mutsert R, Oldehinkel AJ, Pasterkamp G, Pedersen NL, Plomin R, Polasek O, Power C, Rich SS, Rosendaal FR, den Ruijter HM, Schlessinger D, Schmidt H, Svento R, Schmidt R, Alizadeh BZ, Sørensen TI, Spector TD, Steptoe A, Terracciano A, Thurik AR, Timpson NJ, Tiemeier H, Uitterlinden AG, Vollenweider P, Wagner GG, Weir DR, Yang J, Conley DC, Smith GD, Hofman A, Johannesson M, Laibson DI, Medland SE, Meyer MN, Pickrell JK, Esko T, Krueger RF, Beauchamp JP, Koellinger PD, Benjamin DJ, Bartels M, Cesarini D.
Nat Genet. 2016 Jun;48(6):624-33. doi: 10.1038/ng.3552. Epub 2016 Apr 18. PMID: 27089181

Genome-wide association study identifies 74 loci associated with educational attainment.
Okbay A, Beauchamp JP, Fontana MA, Lee JJ, Pers TH, Rietveld CA, Turley P, Chen GB, Emilsson V, Meddens SF, Oskarsson S, Pickrell JK, Thom K, Timshel P, de Vlaming R, Abdellaoui A, Ahluwalia TS, Bacelis J, Baumbach C, Bjornsdottir G, Brandsma JH, Pina Concas M, Derringer J, Furlotte NA, Galesloot TE, Girotto G, Gupta R, Hall LM, Harris SE, Hofer E, Horikoshi M, Huffman JE, Kaasik K, Kalafati IP, Karlsson R, Kong A, Lahti J, van der Lee SJ, deLeeuw C, Lind PA, Lindgren KO, Liu T, Mangino M, Marten J, Mihailov E, Miller MB, van der Most PJ, Oldmeadow C, Payton A, Pervjakova N, Peyrot WJ, Qian Y, Raitakari O, Rueedi R, Salvi E, Schmidt B, Schraut KE, Shi J, Smith AV, Poot RA, St Pourcain B, Teumer A, Thorleifsson G, Verweij N, Vuckovic D, Wellmann J, Westra HJ, Yang J, Zhao W, Zhu Z, Alizadeh BZ, Amin N, Bakshi A, Baumeister SE, Biino G, Bønnelykke K, Boyle PA, Campbell H, Cappuccio FP, Davies G, De Neve JE, Deloukas P, Demuth I, Ding J, Eibich P, Eisele L, Eklund N, Evans DM, Faul JD, Feitosa MF, Forstner AJ, Gandin I, Gunnarsson B, Halldórsson BV, Harris TB, Heath AC, Hocking LJ, Holliday EG, Homuth G, Horan MA, Hottenga JJ, de Jager PL, Joshi PK, Jugessur A, Kaakinen MA, Kähönen M, Kanoni S, Keltigangas-Järvinen L, Kiemeney LA, Kolcic I, Koskinen S, Kraja AT, Kroh M, Kutalik Z, Latvala A, Launer LJ, Lebreton MP, Levinson DF, Lichtenstein P, Lichtner P, Liewald DC; LifeLines Cohort Study, Loukola A, Madden PA, Mägi R, Mäki-Opas T, Marioni RE, Marques-Vidal P, Meddens GA, McMahon G, Meisinger C, Meitinger T, Milaneschi Y, Milani L, Montgomery GW, Myhre R, Nelson CP, Nyholt DR, Ollier WE, Palotie A, Paternoster L, Pedersen NL, Petrovic KE, Porteous DJ, Räikkönen K, Ring SM, Robino A, Rostapshova O, Rudan I, Rustichini A, Salomaa V, Sanders AR, Sarin AP, Schmidt H, Scott RJ, Smith BH, Smith JA, Staessen JA, Steinhagen-Thiessen E, Strauch K, Terracciano A, Tobin MD, Ulivi S, Vaccargiu S, Quaye L, van Rooij FJ, Venturini C, Vinkhuyzen AA, Völker U, Völzke H, Vonk JM, Vozzi D, Waage J, Ware EB, Willemsen G, Attia JR, Bennett DA, Berger K, Bertram L, Bisgaard H, Boomsma DI, Borecki IB, Bültmann U, Chabris CF, Cucca F, Cusi D, Deary IJ, Dedoussis GV, van Duijn CM, Eriksson JG, Franke B, Franke L, Gasparini P, Gejman PV, Gieger C, Grabe HJ, Gratten J, Groenen PJ, Gudnason V, van der Harst P, Hayward C, Hinds DA, Hoffmann W, Hyppönen E, Iacono WG, Jacobsson B, Järvelin MR, Jöckel KH, Kaprio J, Kardia SL, Lehtimäki T, Lehrer SF, Magnusson PK, Martin NG, McGue M, Metspalu A, Pendleton N, Penninx BW, Perola M, Pirastu N, Pirastu M, Polasek O, Posthuma D, Power C, Province MA, Samani NJ, Schlessinger D, Schmidt R, Sørensen TI, Spector TD, Stefansson K, Thorsteinsdottir U, Thurik AR, Timpson NJ, Tiemeier H, Tung JY, Uitterlinden AG, Vitart V, Vollenweider P, Weir DR, Wilson JF, Wright AF, Conley DC, Krueger RF, Davey Smith G, Hofman A, Laibson DI, Medland SE, Meyer MN, Yang J, Johannesson M, Visscher PM, Esko T, Koellinger PD, Cesarini D, Benjamin DJ.
Nature. 2016 May 11;533(7604):539-42. doi: 10.1038/nature17671. PMID: 27225129

Hormone Replacement Therapy Associated White Blood Cell DNA Methylation and Gene Expression are Associated With Within-Pair Differences of Body Adiposity and Bone Mass.
Bahl A, Pöllänen E, Ismail K, Sipilä S, Mikkola TM, Berglund E, Lindqvist CM, Syvänen AC, Rantanen T, Kaprio J, Kovanen V, Ollikainen M.
Twin Res Hum Genet. 2015 Dec;18(6):647-61. doi: 10.1017/thg.2015.82. PMID: 26678050

Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.
Vuckovic D, Dawson S, Scheffer DI, Rantanen T, Morgan A, Di Stazio M, Vozzi D, Nutile T, Concas MP, Biino G, Nolan L, Bahl A, Loukola A, Viljanen A, Davis A, Ciullo M, Corey DP, Pirastu M, Gasparini P, Girotto G.
Hum Mol Genet. 2015 Oct 1;24(19):5655-64. doi: 10.1093/hmg/ddv279. Epub 2015 Jul 17. PMID:26188009

DNA methylation and gene expression patterns in adipose tissue differ significantly within young adult monozygotic BMI-discordant twin pairs.
Pietiläinen KH, Ismail K, Järvinen E, Heinonen S, Tummers M, Bollepalli S, Lyle R, Muniandy M, Moilanen E, Hakkarainen A, Lundbom J, Lundbom N, Rissanen A, Kaprio J, Ollikainen M.
Int J Obes (Lond). 2016 Apr;40(4):654-61. doi: 10.1038/ijo.2015.221. Epub 2015 Oct 26.PMID:26499446

A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism.
Loukola A, Buchwald J, Gupta R, Palviainen T, Hällfors J, Tikkanen E, Korhonen T, Ollikainen M, Sarin AP, Ripatti S, Lehtimäki T, Raitakari O, Salomaa V, Rose RJ, Tyndale RF, Kaprio J.
PLoS Genet. 2015 Sep 25;11(9):e1005498. doi: 10.1371/journal.pgen.1005498. eCollection 2015. PMID: 26407342

Severe psychosocial deprivation in early childhood is associated with increased DNA methylation across a region spanning the transcription start site of CYP2E1
Robert Kumsta*, Sarah J Marzi*, Joana Viana, Emma L Dempster, Bethany Crawford, Michael Rutter, Jonathan Mill, Edmund JS Sonuga-Barke, Translational Psychiatry, Vol.6, e380, 2016. doi:10.1038/tp.2016.95

Tissue-specific patterns of allelically-skewed DNA methylation
Sarah J Marzi, Emma L Meaburn, Emma L Dempster, Katie Lunnon, Jose L Paya-Cano, Rebecca G Smith, Manuela Volta, Claire Troakes, Leonard C Schalkwyk, Jonathan Mill, Epigenetics, Vol.11, Iss.1, 2016. toi:10.1080/15592294.2015.1127479

Using epigenomic studies in monozygotic twins to improve our understanding of cancer
Leonie Roos, Timothy D Spector & Christopher G Bell, Epigenomics, Vol. 6, No. 3, Pages 299-309 , DOI 10.2217/epi.14.13

Epigenetics of discordant monozygotic twins: implications for disease
Juan E Castillo-Fernandez, Tim D Spector and Jordana T Bell, Genome Medicine 2014, 6:60  doi:10.1186/s13073-014-0060-z

Genetic variants linked to education predict longevity
Marioni RE, Ritchie SJ, Joshi PK, Hagenaars SP, Okbay A, Fischer K, Adams MJ, Hill WD, Davies G; Social Science Genetic Association Consortium, Nagy R, Amador C, Läll K, Metspalu A, Liewald DC, Campbell A, Wilson JF, Hayward C, Esko T, Porteous DJ, Gale CR, Deary IJ, Proc Natl Acad Sci U S Avol. 113 no. 47,  13366–13371, 10.1073/pnas.1605334113

Iterative Fragmentation Improves the Detection of ChIP-seq Peaks for Inactive Histone Marks
Laczik M, Hendrickx J, Veillard AC, Tammoh M, Marzi S, Poncelet D., Bioinformatics and Biology insights, Vol. 10, 10.4137/BBI.S40628

Genetic polymorphisms and their association with brain and behavioural measures in heterogeneous stock mice
Janecka M, Marzi SJ, Parsons MJ, Liu L, Paya-Cano JL, Smith RG, Fernandes C, Schalkwyk LC, Scientific Reports, Vol. 7, 10.1038/srep41204

Genetic and environmental impacts on DNA methylation levels in twins
Yet I, Tsai PC, Castillo-Fernandez JE, Carnero-Montoro E, Bell JT., Epigenomics, Vol. 8/Issue 1, 10.2217/epi.15.90

A DNA methylation biomarker of alcohol consumption
Liu C, Marioni RE, Hedman ÅK, Pfeiffer L, Tsai PC, Reynolds LM, Just AC, Duan Q, Boer CG, Tanaka T, Elks CE, Aslibekyan S, Brody JA, Kühnel B, Herder C, Almli LM, Zhi D, Wang Y, Huan T, Yao C, Mendelson MM, Joehanes R, Liang L, Love SA, Guan W, Shah S, McRae AF, Kretschmer A, Prokisch H, Strauch K, Peters A, Visscher PM, Wray NR, Guo X, Wiggins KL, Smith AK, Binder EB, Ressler KJ, Irvin MR, Absher DM, Hernandez D, Ferrucci L, Bandinelli S, Lohman K, Ding J, Trevisi L, Gustafsson S, Sandling JH, Stolk L, Uitterlinden AG, Yet I, Castillo-Fernandez JE, Spector TD, Schwartz JD, Vokonas P, Lind L, Li Y, Fornage M, Arnett DK, Wareham NJ, Sotoodehnia N, Ong KK, van Meurs JB, Conneely KN, Baccarelli AA, Deary IJ, Bell JT, North KE, Liu Y, Waldenberger M, London SJ, Ingelsson E, Levy D, Mol Psychiatry, 15-Nov-16, 10.1038/mp.2016.192

DNA methylation changes at infertility genes in newborn twins conceived by in vitro fertilisation
Castillo-Fernandez JE, Loke YJ, Bass-Stringer S, Gao F, Xia Y, Wu H, Lu H, Liu Y, Wang J, Spector TD, Saffery R, Craig JM, Bell JT, Genome Med, 2017 9:28, 10.1186/s13073-017-0413-5

Epigenome-wide association of DNA methylation in whole blood with bone mineral density.
Castillo-Fernandez JE, Loke YJ, Bass-Stringer S, Gao F, Xia Y, Wu H, Lu H, Liu Y, Wang J, Spector TD, Saffery R, Craig JM, Bell JT, Journal of bone and mineral research, Volume 32, Issue 8, Aug-17, 1644-1650, 10.1002/jbmr.3148

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.
Lucariello M, Vidal E, Vidal S, Saez M, Roa L, Huertas D, Pineda M, Dalfó E, Dopazo J, Jurado P, Armstrong J, Esteller M, Hum Genet. , 135(12):1343-1354, 10.1007/s00439-016-1721-3

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability
Sáez MA, Fernández-Rodríguez J, Moutinho C, Sanchez-Mut JV, Gomez A, Vidal E, Petazzi P, Szczesna K, Lopez-Serra P, Lucariello M, Lorden P, Delgado-Morales R, de la Caridad OJ, Huertas D, Gelpí JL, Orozco M, López-Doriga A, Milà M, Perez-Jurado LA, Pineda M, Armstrong J, Lázaro C, Esteller M, Genet Med. , 2016 Apr;18(4):378-85, 10.1038/gim.2015.100

A comparison of reference-based algorithms for correcting cell-type heterogeneity in Epigenome-Wide Association Studies
Teschendorff AE, Breeze CE, Zheng SC, Beck S, BMC Bioinformatics, 18, 105, 10.1186/s12859-017-1511-5

eForge: A tool for Identifying Cell Type-Specific Signal in Epigenomic Data
Breeze CE, Paul DS, van Dongen J, Butcher LM, Ambrose JC, Barrett JE, Lowe R, Rakyan VK, Iotchkova V, Frontini M, Downes K, Ouwehand WH, Laperle J, Jacques PÉ, Bourque G, Bergmann AK, Siebert R, Vellenga E, Saeed S, Matarese F, Martens JHA, Stunnenberg HG, Teschendorff AE, Herrero J, Birney E, Dunham I, Beck S, Cell Rep, 17, 2137-2150, 10.1016/j.celrep.2016.10.059

The International Human Epigenomic Consortium: A Blueprint for Scientific Callobration and Discovery
Stunnenberg HG; International Human Epigenome Consortium, Hirst M, Cell, 167, 1145-1149, 10.1016/j.cell.2016.11.007

Where next for the reproducibiility agenda in computational biology?
Lewis J, Breeze CE, Charlesworth J, Maclaren OJ, Cooper J, BMC Syst. Biol., 10,52, 10.1186/s12918-016-0288-x

Epigenetic reprogramming of fallopian tube fimbriae in BRCA mutation carriers defines early ovarian cancer evolution
Bartlett TE, Chindera K, McDermott J, Breeze CE, Cooke WR, Jones A, Reisel D, Karegodar ST, Arora R, Beck S, Menon U, Dubeau L, Widschwendter M, Nat Commun, 7, 11620, 10.1038/ncomms11620

Genetic and environmental influences interact with age and sex in shaping the human methylome
van Dongen J, Nivard MG, Willemsen G, Hottenga JJ, Helmer Q, Dolan CV, Ehli EA, Davies GE, van Iterson M, Breeze CE, Beck S; BIOS Consortium, Suchiman HE, Jansen R, van Meurs JB, Heijmans BT, Slagboom PE, Boomsma DI, Nat Commun, 711,115, 10.1038/ncomms11115

Tissue-independent and tissue-specific patterns of DNA methylation alteration in cancer
Chen Y, Breeze CE, Zhen S, Beck S, Teschendorff AE, Epigenetics Chromatin, 9,10, 10.1186/s13072-016-0058-4

Higher nevus count exhibits a distinct DNA methylation signature in healthy human skin: implications for melanoma.
Roos L, Sandling JK, Bell CG, Glass D, Mangino M, Spector TD, Deloukas P, Bataille V, Bell JT, The journal of Investigative Dermatology, S0022-202X(1632787-7, 10.1016/j.jid.2016.11.029

Novel regional age-associated DNA methylation changes within human common disease-associated loci.
Bell CG, Xia Y, Yuan W, Gao F, Ward K, Roos L, Mangino M, Hysi PG, Bell J, Wang J, Spector TD, Genome Biology, Sep 17:193, 10.1186/s13059-016-1051-8

Integrative DNA methylome analysis of pan-cancer biomarkers in cancer discordant monozygotic twin-pairs.
Roos L, van Dongen J, Bell CG, Burri A, Deloukas P, Boomsma D, Spector TD, Bell JT, Clinical Epigenetics, Jan 8;7, 10.1186/s13148-016-0172-y

Increased DNA methylation variability in type 1 diabetes across three immune effector cell types
Paul DS, Teschendorff AE, Dang MA, Lowe R, Hawa MI, Ecker S, Beyan H, Cunningham S, Fouts AR, Ramelius A, Burden F, Farrow S, Rowlston S, Rehnstrom K, Frontini M, Downes K, Busche S, Cheung WA, Ge B, Simon MM, Bujold D, Kwan T, Bourque G, Datta A, Lowy E, Clarke L, Flicek P, Libertini E, Heath S, Gut M, Gut IG, Ouwehand WH, Pastinen T, Soranzo N, Hofer SE, Karges B, Meissner T, Boehm BO, Cilio C, Elding Larsson H, Lernmark Å, Steck AK, Rakyan VK, Beck S, Leslie RD.,  NATURE COMMUNICATIONS, 7:13555, 10.1038/ncomms13555

Saturation analysis for whole-genome bisulfite sequencing data
Libertini E, Heath SC, Hamoudi RA, Gut M, Ziller MJ, Herrero J, Czyz A, Ruotti V, Stunnenberg HG, Frontini M, Ouwehand WH, Meissner A, Gut IG, Beck S, Nat Biotechnol. , 2016 Jun 27., 10.1038/nbt.3524

Information recovery from low coverage whole-genome bisulfite sequencing
Libertini E, Heath SC, Hamoudi RA, Gut M, Ziller MJ, Czyz A, Ruotti V, Stunnenberg HG, Frontini M, Ouwehand WH, Meissner A, Gut IG, Beck S, Nat Commun.,  2016 Jun 27;7:11306, 10.1038/ncomms11306

Overexpression of the Heterochromatinization Factor BAHD1 in HEK293 Cells Differentially Reshapes the DNA Methylome on Autosomes and X Chromosome
Libertini E, Lebreton A, Lakisic G, Dillies MA, Beck S, Coppée JY, Cossart P, Bierne H., Front Genet. , 2015 Dec 1;6:339., 10.3389/fgene.2015.00339

Epigenetic inactivation of the p53-induced long noncoding RNA TP53 target 1 in human cancer
Diaz-Lagares A, Crujeiras AB, Lopez-Serra P, Soler M, Setien F, Goyal A, Sandoval J, Hashimoto Y, Martinez-Cardús A, Gomez A, Heyn H, Moutinho C, Espada J, Vidal A, Paúles M, Galán M, Sala N, Akiyama Y, Martínez-Iniesta M, Farré L, Villanueva A, Gross M, Diederichs S, Guil S, Esteller M., Proc Natl Acad Sci U S A., 2016 Nov 22;113(47):E7535-E7544, 10.1073/pnas.1608585113

A comprehensive DNA methylation profile of epithelial-to-mesenchymal transition
Carmona FJ, Davalos V, Vidal E, Gomez A, Heyn H, Hashimoto Y, Vizoso M, Martinez-Cardus A, Sayols S, Ferreira HJ, Sánchez-Mut JV, Morán S, Margelí M, Castella E, Berdasco M, Stefansson OA, Eyfjord JE, Gonzalez-Suarez E, Dopazo J, Orozco M, Gut IG, Esteller M., Cancer Res. , 2014 Oct 1;74(19):5608-19, 10.1158/0008-5472.CAN-13-3659

Contribution of Heritability and Epigenetic Factors to Skeletal Muscle Mass Variation in United Kingdom Twins.
Livshits G, Gao F, Malkin I, Needhamsen M, Xia Y, Yuan W, Bell CG, Ward K, Liu Y, Wang J, Bell JT, Spector TD, J Clin Endocrinol Metab. , 2016 Jun;101(6):2450-9., 10.1210/jc.2016-1219