Tomi Pastinen M.D., Ph.D.

Recent Publications

  1. Nordlund J, Bäcklin CL, Wahlberg P, Busche S, Berglund EC, Eloranta ML, Flaegstad T, Forestier E, Frost BM, Harila-Saari A, Heyman M, Jónsson OG, Larsson R, Palle J, Rönnblom L, Schmiegelow K, Sinnett D, Söderhäll S, Pastinen T, Gustafsson MG, Lönnerholm G, Syvänen AC. Genome-wide signatures of differential DNA methylation in pediatric acute lymphoblastic leukemia. Genome Biol. 2013 Sep 24;14(9):r105.
  2. Li Q, Makri A, Lu Y, Marchand L, Grabs R, Rousseau M, Ounissi-Benkalha H, Pelletier J, Robert F, Harmsen E, Hudson TJ, Pastinen T, Polychronakos C, Qu HQ. Genome-wide search for exonic variants affecting translational efficiency. Nat Commun. 2013;4:2260.
  3. Najafabadi HS, Lu Z, Macpherson C, Mehta V, Adoue V, Pastinen T, Salavati R. Global identification of conserved post-transcriptional regulatory programs in trypanosomatids. Nucleic Acids Res. 2013 Oct 1;41(18):8591-600.
  4. Busche S, Ge B, Vidal R, Spinella JF, Saillour V, Richer C, Healy J, Chen SH, Droit A, Sinnett D, Pastinen T. Integration of high-resolution methylome and transcriptome analyses to dissect epigenomic changes in childhood acute lymphoblastic leukemia. Cancer Res. 2013 Jul 15;73(14):4323-36.
  5. Demerath EW, Liu CT, Franceschini N, Chen G, Palmer JR, Smith EN, Chen CT, Ambrosone CB, Arnold AM, Bandera EV, Berenson GS, Bernstein L, Britton A, Cappola AR, Carlson CS, Chanock SJ, Chen W, Chen Z, Deming SL, Elks CE, Evans MK, Gajdos Z, Henderson BE, Hu JJ, Ingles S, John EM, Kerr KF, Kolonel LN, Le Marchand L, Lu X, Millikan RC, Musani SK, Nock NL, North K, Nyante S, Press MF, Rodriquez-Gil JL, Ruiz-Narvaez EA, Schork NJ, Srinivasan SR, Woods NF, Zheng W, Ziegler RG, Zonderman A, Heiss G, Gwen Windham B, Wellons M, Murray SS, Nalls M, Pastinen T, Rajkovic A, Hirschhorn J, Adrienne Cupples L, Kooperberg C, Murabito JM, Haiman CA. Genome-wide association study of age at menarche in African-American women. Hum Mol Genet. 2013 Aug 15;22(16):3329-46.
  6. Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P, Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S, Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Jakubowska A; kConFab Investigators, Radice P, Schmutzler RK; SWE-BRCA, Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M; Ontario Cancer Genetics Network, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB, van Rensburg EJ, Hamann U, Ramus SJ, Toland AE, Caligo MA, Olopade OI, Tung N, Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John EM, Kwong A, Diez O, Balmaña J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz PA, Campbell I, van der Hout AH, van Deurzen CH, Seynaeve C, Gómez Garcia EB, van Leeuwen FE, Meijers-Heijboer HE, Gille JJ, Ausems MG, Blok MJ, Ligtenberg MJ, Rookus MA, Devilee P, Verhoef S, van Os TA, Wijnen JT; HEBON; EMBRACE, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM, Cook J, Brewer C, Douglas F, Hodgson S, Morrison PJ, Side LE, Donaldson A, Houghton C, Rogers MT, Dorkins H, Eason J, Gregory H, McCann E, Murray A, Calender A, Hardouin A, Berthet P, Delnatte C, Nogues C, Lasset C, Houdayer C, Leroux D, Rouleau E, Prieur F, Damiola F, Sobol H, Coupier I, Venat-Bouvet L, Castera L, Gauthier-Villars M, Léoné M, Pujol P, Mazoyer S, Bignon YJ; GEMO Study Collaborators, Złowocka-Perłowska E, Gronwald J, Lubinski J, Durda K, Jaworska K, Huzarski T, Spurdle AB, Viel A, Peissel B, Bonanni B, Melloni G, Ottini L, Papi L, Varesco L, Tibiletti MG, Peterlongo P, Volorio S, Manoukian S, Pensotti V, Arnold N, Engel C, Deissler H, Gadzicki D, Gehrig A, Kast K, Rhiem K, Meindl A, Niederacher D, Ditsch N, Plendl H, Preisler-Adams S, Engert S, Sutter C, Varon-Mateeva R, Wappenschmidt B, Weber BH, Arver B, Stenmark-Askmalm M, Loman N, Rosenquist R, Einbeigi Z, Nathanson KL, Rebbeck TR, Blank SV, Cohn DE, Rodriguez GC, Small L, Friedlander M, Bae-Jump VL, Fink-Retter A, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Lindor NM, Kaufman B, Shimon Paluch S, Laitman Y, Skytte AB, Gerdes AM, Pedersen IS, Moeller ST, Kruse TA, Jensen UB, Vijai J, Sarrel K, Robson M, Kauff N, Mulligan AM, Glendon G, Ozcelik H, Ejlertsen B, Nielsen FC, Jønson L, Andersen MK, Ding YC, Steele L, Foretova L, Teulé A, Lazaro C, Brunet J, Pujana MA, Mai PL, Loud JT, Walsh C, Lester J, Orsulic S, Narod SA, Herzog J, Sand SR, Tognazzo S, Agata S, Vaszko T, Weaver J, Stavropoulou AV, Buys SS, Romero A, de la Hoya M, Aittomäki K, Muranen TA, Duran M, Chung WK, Lasa A, Dorfling CM, Miron A; BCFR, Benitez J, Senter L, Huo D, Chan SB, Sokolenko AP, Chiquette J, Tihomirova L, Friebel TM, Agnarsson BA, Lu KH, Lejbkowicz F, James PA, Hall P, Dunning AM, Tessier D, Cunningham J, Slager SL, Wang C, Hart S, Stevens K, Simard J, Pastinen T, Pankratz VS, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC; CIMBA. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet. 2013;9(3):e1003212.
  7. Almlöf JC, Lundmark P, Lundmark A, Ge B, Maouche S, Göring HH, Liljedahl U, Enström C, Brocheton J, Proust C, Godefroy T, Sambrook JG, Jolley J, Crisp-Hihn A, Foad N, Lloyd-Jones H, Stephens J, Gwilliam R, Rice CM, Hengstenberg C, Samani NJ, Erdmann J, Schunkert H, Pastinen T, Deloukas P, Goodall AH, Ouwehand WH, Cambien F, Syvänen AC. “Powerful Identification of Cis-regulatory SNPs in Human Primary Monocytes Using Allele-Specific Gene Expression”. PLoS One. 2012;7(12):e52260. PMID:23300628.
  8. The CARDIoGRAMplusC4D Consortium, Deloukas P, Kanoni S, Willenborg C, Farrall M, Assimes TL, Thompson JR, Ingelsson E, Saleheen D, Erdmann J, Goldstein BA, Stirrups K, König IR, Cazier JB, Johansson A, Hall AS, Lee JY, Willer CJ, Chambers JC, Esko T, Folkersen L, Goel A, Grundberg E, Havulinna AS, Ho WK, Hopewell JC, Eriksson N, Kleber ME, Kristiansson K, Lundmark P, Lyytikäinen LP, Rafelt S, Shungin D, Strawbridge RJ, Thorleifsson G, Tikkanen E, Van Zuydam N, Voight BF, Waite LL, Zhang W, Ziegler A, Absher D, Altshuler D, Balmforth AJ, Barroso I, Braund PS, Burgdorf C, Claudi-Boehm S, Cox D, Dimitriou M, Do R; DIAGRAM Consortium; CARDIOGENICS Consortium, Doney AS, Mokhtari NE, Eriksson P, Fischer K, Fontanillas P, Franco-Cereceda A, Gigante B, Groop L, Gustafsson S, Hager J, Hallmans G, Han BG, Hunt SE, Kang HM, Illig T, Kessler T, Knowles JW, Kolovou G, Kuusisto J, Langenberg C, Langford C, Leander K, Lokki ML, Lundmark A, McCarthy MI, Meisinger C, Melander O, Mihailov E, Maouche S, Morris AD, Müller-Nurasyid M; MuTHER Consortium, Nikus K, Peden JF, Rayner NW, Rasheed A, Rosinger S, Rubin D, Rumpf MP, Schäfer A, Sivananthan M, Song C, Stewart AF, Tan ST, Thorgeirsson G, Schoot CE, Wagner PJ; Wellcome Trust Case Control Consortium, Wells GA, Wild PS, Yang TP, Amouyel P, Arveiler D, Basart H, Boehnke M, Boerwinkle E, Brambilla P, Cambien F, Cupples AL, de Faire U, Dehghan A, Diemert P, Epstein SE, Evans A, Ferrario MM, Ferrières J, Gauguier D, Go AS, Goodall AH, Gudnason V, Hazen SL, Holm H, Iribarren C, Jang Y, Kähönen M, Kee F, Kim HS, Klopp N, Koenig W, Kratzer W, Kuulasmaa K, Laakso M, Laaksonen R, Lee JY, Lind L, Ouwehand WH, Parish S, Park JE, Pedersen NL, Peters A, Quertermous T, Rader DJ, Salomaa V, Schadt E, Shah SH, Sinisalo J, Stark K, Stefansson K, Trégouët DA, Virtamo J, Wallentin L, Wareham N, Zimmermann ME, Nieminen MS, Hengstenberg C, Sandhu MS, Pastinen T, Syvänen AC, Hovingh GK, Dedoussis G, Franks PW, Lehtimäki T, Metspalu A, Zalloua PA, Siegbahn A, Schreiber S, Ripatti S, Blankenberg SS, Perola M, Clarke R, Boehm BO, O'Donnell C, Reilly MP, März W, Collins R, Kathiresan S, Hamsten A, Kooner JS, Thorsteinsdottir U, Danesh J, Palmer CN, Roberts R, Watkins H, Schunkert H, Samani NJ. “Large-scale association analysis identifies new risk loci for coronary artery disease”. Nat Genet. 2012 Dec 2;45(1):25-33. PMID:23202125
  9. Liu CT, Estrada K, Yerges-Armstrong LM, Amin N, Evangelou E, Li G, Minster RL, Carless MA, Kammerer CM, Oei L, Zhou Y, Alonso N, Dailiana Z, Eriksson J, García-Giralt N, Giroux S, Husted LB, Khusainova RI, Koromila T, Kung AW, Lewis JR, Masi L, Mencej-Bedrac S, Nogues X, Patel MS, Prezelj J, Richards JB, Sham PC, Spector T, Vandenput L, Xiao SM, Zheng HF, Zhu K, Balcells S, Brandi ML, Frost M, Goltzman D, González-Macías J, Karlsson M, Khusnutdinova EK, Kollia P, Langdahl BL, Ljunggren O, Lorentzon M, Marc J, Mellström D, Ohlsson C, Olmos JM, Ralston SH, Riancho JA, Rousseau F, Urreizti R, Van Hul W, Zarrabeitia MT, Castano-Betancourt M, Demissie S, Grundberg E, Herrera L, Kwan T, Medina-Gómez C, Pastinen T, Sigurdsson G, Thorleifsson G, Vanmeurs JB, Blangero J, Hofman A, Liu Y, Mitchell BD, O'Connell JR, Oostra BA, Rotter JI, Stefansson K, Streeten EA, Styrkarsdottir U, Thorsteinsdottir U, Tylavsky FA, Uitterlinden A, Cauley JA, Harris TB, Ioannidis JP, Psaty BM, Robbins JA, Zillikens MC, Vanduijn CM, Prince RL, Karasik D, Rivadeneira F, Kiel DP, Cupples LA, Hsu YH. “Assessment of gene-by-sex interaction effect on bone mineral density”. J Bone Miner Res. 2012 Oct;27(10):2051-64. PMID: 22692763
  10. Lefebvre JF, Vello E, Ge B, Montgomery SB, Dermitzakis ET, Pastinen T, Labuda D. “Genotype-based test in mapping cis-regulatory variants from allele-specific expression data”. PLoS One. 2012;7(6):e38667. PMID: 22685595
  11. Verlaan DJ, Ouimet M, Adoue V, Sirois-Gagnon D, Larivière M, Ge B, Beaulieu P, Dias J, Lam KC, Koka V, Laprise C, Pastinen T, Sinnett D. “ Promoter polymorphisms in CHI3L1 are associated with asthma”. J Allergy Clin Immunol. 2012 Aug;130(2):533-5. PMID: 22534532.
  12. Estrada K, Styrkarsdottir U, Evangelou E, Hsu YH, Duncan EL, Ntzani EE, Oei L, Albagha OM, Amin N, Kemp JP, Koller DL, Li G, Liu CT, Minster RL, Moayyeri A, Vandenput L, Willner D, Xiao SM, Yerges-Armstrong LM, Zheng HF, Alonso N, Eriksson J, Kammerer CM, Kaptoge SK, Leo PJ, Thorleifsson G, Wilson SG, Wilson JF, Aalto V, Alen M, Aragaki AK, Aspelund T, Center JR, Dailiana Z, Duggan DJ, Garcia M, Garcia-Giralt N, Giroux S, Hallmans G, Hocking LJ, Husted LB, Jameson KA, Khusainova R, Kim GS, Kooperberg C, Koromila T, Kruk M, Laaksonen M, Lacroix AZ, Lee SH, Leung PC, Lewis JR, Masi L, Mencej-Bedrac S, Nguyen TV, Nogues X, Patel MS, Prezelj J, Rose LM, Scollen S, Siggeirsdottir K, Smith AV, Svensson O, Trompet S, Trummer O, van Schoor NM, Woo J, Zhu K, Balcells S, Brandi ML, Buckley BM, Cheng S, Christiansen C, Cooper C, Dedoussis G, Ford I, Frost M, Goltzman D, González-Macías J, Kähönen M, Karlsson M, Khusnutdinova E, Koh JM, Kollia P, Langdahl BL, Leslie WD, Lips P, Ljunggren Ö, Lorenc RS, Marc J, Mellström D, Obermayer-Pietsch B, Olmos JM, Pettersson-Kymmer U, Reid DM, Riancho JA, Ridker PM, Rousseau F, Slagboom PE, Tang NL, Urreizti R, Van Hul W, Viikari J, Zarrabeitia MT, Aulchenko YS, Castano-Betancourt M, Grundberg E, Herrera L, Ingvarsson T, Johannsdottir H, Kwan T, Li R, Luben R, Medina-Gómez C, Palsson ST, Reppe S, Rotter JI, Sigurdsson G, van Meurs JB, Verlaan D, Williams FM, Wood AR, Zhou Y, Gautvik KM, Pastinen T, Raychaudhuri S, Cauley JA, Chasman DI, Clark GR, Cummings SR, Danoy P, Dennison EM, Eastell R, Eisman JA, Gudnason V, Hofman A, Jackson RD, Jones G, Jukema JW, Khaw KT, Lehtimäki T, Liu Y, Lorentzon M, McCloskey E, Mitchell BD, Nandakumar K, Nicholson GC, Oostra BA, Peacock M, Pols HA, Prince RL, Raitakari O, Reid IR, Robbins J, Sambrook PN, Sham PC, Shuldiner AR, Tylavsky FA, van Duijn CM, Wareham NJ, Cupples LA, Econs MJ, Evans DM, Harris TB, Kung AW, Psaty BM, Reeve J, Spector TD, Streeten EA, Zillikens MC, Thorsteinsdottir U, Ohlsson C, Karasik D, Richards JB, Brown MA, Stefansson K, Uitterlinden AG, Ralston SH, Ioannidis JP, Kiel DP, Rivadeneira F. “Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture”. Nat Genet. 2012 Apr 15;44(5):491-501. PMID: 2250442.
  13. Sanseau P, Agarwal P, Barnes MR, Pastinen T, Richards JB, Cardon LR, Mooser V. “Use of genome-wide association studies for drug repositioning”. Nat Biotechnol. 2012 Apr 10;30(4):317-20. PMID: 22491277.
  14. Berlivet S, Moussette S, Ouimet M, Verlaan DJ, Koka V, Al Tuwaijri A, Kwan T, Sinnett D, Pastinen T, Naumova AK. “Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines”. Hum Genet. 2012 Jul;131(7):1161-71.
  15. Schiavi A, Light N, Adoue V, Busche S, Pastinen T. “Human genetics in full resolution”. Genome Biol. 2011 Nov 24;12(11):309. PMID: 22115312
  16. N'Diaye A, Chen GK, Palmer CD, Ge B, Tayo B, Mathias RA, Ding J, Nalls MA, Adeyemo A, Adoue V, Ambrosone CB, Atwood L, Bandera EV, Becker LC, Berndt SI, Bernstein L, Blot WJ, Boerwinkle E, Britton A, Casey G, Chanock SJ, Demerath E, Deming SL, Diver WR, Fox C, Harris TB, Hernandez DG, Hu JJ, Ingles SA, John EM, Johnson C, Keating B, Kittles RA, Kolonel LN, Kritchevsky SB, Le Marchand L, Lohman K, Liu J, Millikan RC, Murphy A, Musani S, Neslund-Dudas C, North KE, Nyante S, Ogunniyi A, Ostrander EA, Papanicolaou G, Patel S, Pettaway CA, Press MF, Redline S, Rodriguez-Gil JL, Rotimi C, Rybicki BA, Salako B, Schreiner PJ, Signorello LB, Singleton AB, Stanford JL, Stram AH, Stram DO, Strom SS, Suktitipat B, Thun MJ, Witte JS, Yanek LR, Ziegler RG, Zheng W, Zhu X, Zmuda JM, Zonderman AB, Evans MK, Liu Y, Becker DM, Cooper RS, Pastinen T, Henderson BE, Hirschhorn JN, Lettre G, Haiman CA. “Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry”. PLoS Genet. 2011 Oct;7(10):e1002298. PMID: 21998595
  17. Labuda M, Laberge S, Brière J, Bérubé D, Beaulieu P, Pastinen T, Krajinovic M. “Phosphodiesterase type 4D gene polymorphism: association with the response to short-acting bronchodilators in paediatric asthma patients”. Mediators Inflamm. 2011;2011:301695. PMID: 21876611
  18. Morcos L, Ge B, Koka V, Lam KC, Pokholok DK, Gunderson KL, Montpetit A, Verlaan DJ, Pastinen T. “Genome-wide assessment of imprinted expression in human cells”. Genome Biol. 2011;12(3):R25. PMID: 21418647
  19. Grundberg E, Adoue V, Kwan T, Ge B, Duan QL, Lam KC, Koka V, Kindmark A, Weiss ST, Tantisira K, Mallmin H, Raby BA, Nilsson O, Pastinen T. “Global analysis of the impact of environmental perturbation on cis-regulation of gene expression”. PLoS Genet. 2011 Jan 20;7(1):e1001279. PMID: 21283786
  20. Lalonde E, Ha KC, Wang Z, Bemmo A, Kleinman CL, Kwan T, Pastinen T, Majewski J. “RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression”. Genome Res. 2011 Apr;21(4):545-54. PMID: 21173033
  21. Majewski J, Pastinen T. “The study of eQTL variations by RNA-seq: from SNPs to phenotypes”. Trends Genet. 2011 Feb;27(2):72-9. PMID: 21122937