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Tomi Pastinen, PhD

TitleDirector, Center for Pediatric Genomic Medicine
InstitutionChildren's Mercy Kansas City
DepartmentPediatrics
Address2401 Gillham Rd
Kansas City MO 64108
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    Other Positions
    TitleProfessor of Genomic Medicine
    InstitutionUniversity of Missouri-Kansas City
    DepartmentPediatrics


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    Dr. Pastinen has been the Director of the Center for Pediatric Genomic Medicine (CPGM) since 2017. Dr. Pastinen joined Children's Mercy from McGill University. He held the Canada Research Chair from 2007 to 2017 and has a significant track record of academic achievement. He has authored over 120 peer-reviewed publications, including papers in top-tier journals Cell and Nature Genetics. Prior to joining Children’s Mercy, he led the epigenome mapping center at McGill as part of the International Human Epigenome Consortium, which provides maps of genome function to the global research community. Dr. Pastinen is leading Genomic Answers for Kids, a foundational initiative for future genomic research at Children’s Mercy that aims to learn from 30,000 children with genetic conditions.

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Battaglia M, Ahmed S, Anderson MS, Atkinson MA, Becker D, Bingley PJ, Bosi E, Brusko TM, DiMeglio LA, Evans-Molina C, Gitelman SE, Greenbaum CJ, Gottlieb PA, Herold KC, Hessner MJ, Knip M, Jacobsen L, Krischer JP, Long SA, Lundgren M, McKinney EF, Morgan NG, Oram RA, Pastinen T, Peters MC, Petrelli A, Qian X, Redondo MJ, Roep BO, Schatz D, Skibinski D, Peakman M. Introducing the Endotype Concept to Address the Challenge of Disease Heterogeneity in Type 1 Diabetes. Diabetes Care. 2020 Jan; 43(1):5-12. PMID: 31753960.
      View in: PubMed
    2. Chan D, Shao X, Dumargne MC, Aarabi M, Simon MM, Kwan T, Bailey JL, Robaire B, Kimmins S, San Gabriel MC, Zini A, Librach C, Moskovtsev S, Grundberg E, Bourque G, Pastinen T, Trasler JM. Customized MethylC-Capture Sequencing to Evaluate Variation in the Human Sperm DNA Methylome Representative of Altered Folate Metabolism. Environ Health Perspect. 2019 08; 127(8):87002. PMID: 31393794.
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    3. Shao X, Hudson M, Colmegna I, Greenwood CMT, Fritzler MJ, Awadalla P, Pastinen T, Bernatsky S. Rheumatoid arthritis-relevant DNA methylation changes identified in ACPA-positive asymptomatic individuals using methylome capture sequencing. Clin Epigenetics. 2019 Jul 31; 11(1):110. PMID: 31366403.
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    4. Ritari J, Hyvärinen K, Koskela S, Niittyvuopio R, Nihtinen A, Salmenniemi U, Putkonen M, Volin L, Kwan T, Pastinen T, Itälä-Remes M, Partanen J. Computational Analysis of HLA-presentation of Non-synonymous Recipient Mismatches Indicates Effect on the Risk of Chronic Graft-vs.-Host Disease After Allogeneic HSCT. Front Immunol. 2019; 10:1625. PMID: 31379830.
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    5. Lalonde S, Codina-Fauteux VA, de Bellefon SM, Leblanc F, Beaudoin M, Simon MM, Dali R, Kwan T, Lo KS, Pastinen T, Lettre G. Integrative analysis of vascular endothelial cell genomic features identifies AIDA as a coronary artery disease candidate gene. Genome Biol. 2019 07 08; 20(1):133. PMID: 31287004.
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    6. Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese AK, van der Laan SW, Gretarsdottir S, Anderson CD, Chong M, Adams HHH, Ago T, Almgren P, Amouyel P, Ay H, Bartz TM, Benavente OR, Bevan S, Boncoraglio GB, Brown RD, Butterworth AS, Carrera C, Carty CL, Chasman DI, Chen WM, Cole JW, Correa A, Cotlarciuc I, Cruchaga C, Danesh J, de Bakker PIW, DeStefano AL, den Hoed M, Duan Q, Engelter ST, Falcone GJ, Gottesman RF, Grewal RP, Gudnason V, Gustafsson S, Haessler J, Harris TB, Hassan A, Havulinna AS, Heckbert SR, Holliday EG, Howard G, Hsu FC, Hyacinth HI, Ikram MA, Ingelsson E, Irvin MR, Jian X, Jiménez-Conde J, Johnson JA, Jukema JW, Kanai M, Keene KL, Kissela BM, Kleindorfer DO, Kooperberg C, Kubo M, Lange LA, Langefeld CD, Langenberg C, Launer LJ, Lee JM, Lemmens R, Leys D, Lewis CM, Lin WY, Lindgren AG, Lorentzen E, Magnusson PK, Maguire J, Manichaikul A, McArdle PF, Meschia JF, Mitchell BD, Mosley TH, Nalls MA, Ninomiya T, O'Donnell MJ, Psaty BM, Pulit SL, Rannikmäe K, Reiner AP, Rexrode KM, Rice K, Rich SS, Ridker PM, Rost NS, Rothwell PM, Rotter JI, Rundek T, Sacco RL, Sakaue S, Sale MM, Salomaa V, Sapkota BR, Schmidt R, Schmidt CO, Schminke U, Sharma P, Slowik A, Sudlow CLM, Tanislav C, Tatlisumak T, Taylor KD, Thijs VNS, Thorleifsson G, Thorsteinsdottir U, Tiedt S, Trompet S, Tzourio C, van Duijn CM, Walters M, Wareham NJ, Wassertheil-Smoller S, Wilson JG, Wiggins KL, Yang Q, Yusuf S, Bis JC, Pastinen T, Ruusalepp A, Schadt EE, Koplev S, Björkegren JLM, Codoni V, Civelek M, Smith NL, Trégouët DA, Christophersen IE, Roselli C, Lubitz SA, Ellinor PT, Tai ES, Kooner JS, Kato N, He J, van der Harst P, Elliott P, Chambers JC, Takeuchi F, Johnson AD, Sanghera DK, Melander O, Jern C, Strbian D, Fernandez-Cadenas I, Longstreth WT, Rolfs A, Hata J, Woo D, Rosand J, Pare G, Hopewell JC, Saleheen D, Stefansson K, Worrall BB, Kittner SJ, Seshadri S, Fornage M, Markus HS, Howson JMM, Kamatani Y, Debette S, Dichgans M. Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. Nat Genet. 2019 Jul; 51(7):1192-1193. PMID: 31160810.
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    7. Dyke SOM, Saulnier KM, Dupras C, Webster AP, Maschke K, Rothstein M, Siebert R, Walter J, Beck S, Pastinen T, Joly Y. Points-to-consider on the return of results in epigenetic research. Genome Med. 2019 05 23; 11(1):31. PMID: 31122281.
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    8. Cheung WA, Shao X, Morin A, Siroux V, Kwan T, Ge B, Aïssi D, Chen L, Vasquez L, Allum F, Guénard F, Bouzigon E, Simon MM, Boulier E, Redensek A, Watt S, Datta A, Clarke L, Flicek P, Mead D, Paul DS, Beck S, Bourque G, Lathrop M, Tchernof A, Vohl MC, Demenais F, Pin I, Downes K, Stunnenberg HG, Soranzo N, Pastinen T, Grundberg E. Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome. Genome Biol. 2019 05 07; 20(1):89. PMID: 31064398.
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    9. Harutyunyan AS, Krug B, Chen H, Papillon-Cavanagh S, Zeinieh M, De Jay N, Deshmukh S, Chen CCL, Belle J, Mikael LG, Marchione DM, Li R, Nikbakht H, Hu B, Cagnone G, Cheung WA, Mohammadnia A, Bechet D, Faury D, McConechy MK, Pathania M, Jain SU, Ellezam B, Weil AG, Montpetit A, Salomoni P, Pastinen T, Lu C, Lewis PW, Garcia BA, Kleinman CL, Jabado N, Majewski J. H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis. Nat Commun. 2019 03 19; 10(1):1262. PMID: 30890717.
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    10. Allum F, Hedman ÅK, Shao X, Cheung WA, Vijay J, Guénard F, Kwan T, Simon MM, Ge B, Moura C, Boulier E, Rönnblom L, Bernatsky S, Lathrop M, McCarthy MI, Deloukas P, Tchernof A, Pastinen T, Vohl MC, Grundberg E. Dissecting features of epigenetic variants underlying cardiometabolic risk using full-resolution epigenome profiling in regulatory elements. Nat Commun. 2019 03 14; 10(1):1209. PMID: 30872577.
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    11. Caron M, St-Onge P, Drouin S, Richer C, Sontag T, Busche S, Bourque G, Pastinen T, Sinnett D. Very long intergenic non-coding RNA transcripts and expression profiles are associated to specific childhood acute lymphoblastic leukemia subtypes. PLoS One. 2018; 13(11):e0207250. PMID: 30440012.
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    12. Shokoohi F, Stephens DA, Bourque G, Pastinen T, Greenwood CMT, Labbe A. A hidden markov model for identifying differentially methylated sites in bisulfite sequencing data. Biometrics. 2019 03; 75(1):210-221. PMID: 30168593.
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    13. Orlando G, Law PJ, Cornish AJ, Dobbins SE, Chubb D, Broderick P, Litchfield K, Hariri F, Pastinen T, Osborne CS, Taipale J, Houlston RS. Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer. Nat Genet. 2018 10; 50(10):1375-1380. PMID: 30224643.
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    14. Morin A, Madore AM, Kwan T, Ban M, Partanen J, Rönnblom L, Syvänen AC, Sawcer S, Stunnenberg H, Lathrop M, Pastinen T, Laprise C. Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits. Eur J Hum Genet. 2019 01; 27(1):90-101. PMID: 30206357.
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    15. Sud A, Thomsen H, Orlando G, Försti A, Law PJ, Broderick P, Cooke R, Hariri F, Pastinen T, Easton DF, Pharoah PDP, Dunning AM, Peto J, Canzian F, Eeles R, Kote-Jarai Z, Muir K, Pashayan N, Campa D, Hoffmann P, Nöthen MM, Jöckel KH, von Strandmann EP, Swerdlow AJ, Engert A, Orr N, Hemminki K, Houlston RS. Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma. Blood. 2018 11 08; 132(19):2040-2052. PMID: 30194254.
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    16. Ritari J, Hyvärinen K, Koskela S, Itälä-Remes M, Niittyvuopio R, Nihtinen A, Salmenniemi U, Putkonen M, Volin L, Kwan T, Pastinen T, Partanen J. Genomic prediction of relapse in recipients of allogeneic haematopoietic stem cell transplantation. Leukemia. 2019 01; 33(1):240-248. PMID: 30089915.
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    17. Koskela S, Ritari J, Hyvärinen K, Kwan T, Niittyvuopio R, Itälä-Remes M, Pastinen T, Partanen J. Hidden genomic MHC disparity between HLA-matched sibling pairs in hematopoietic stem cell transplantation. Sci Rep. 2018 03 29; 8(1):5396. PMID: 29599509.
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    18. Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese AK, van der Laan SW, Gretarsdottir S, Anderson CD, Chong M, Adams HHH, Ago T, Almgren P, Amouyel P, Ay H, Bartz TM, Benavente OR, Bevan S, Boncoraglio GB, Brown RD, Butterworth AS, Carrera C, Carty CL, Chasman DI, Chen WM, Cole JW, Correa A, Cotlarciuc I, Cruchaga C, Danesh J, de Bakker PIW, DeStefano AL, den Hoed M, Duan Q, Engelter ST, Falcone GJ, Gottesman RF, Grewal RP, Gudnason V, Gustafsson S, Haessler J, Harris TB, Hassan A, Havulinna AS, Heckbert SR, Holliday EG, Howard G, Hsu FC, Hyacinth HI, Ikram MA, Ingelsson E, Irvin MR, Jian X, Jiménez-Conde J, Johnson JA, Jukema JW, Kanai M, Keene KL, Kissela BM, Kleindorfer DO, Kooperberg C, Kubo M, Lange LA, Langefeld CD, Langenberg C, Launer LJ, Lee JM, Lemmens R, Leys D, Lewis CM, Lin WY, Lindgren AG, Lorentzen E, Magnusson PK, Maguire J, Manichaikul A, McArdle PF, Meschia JF, Mitchell BD, Mosley TH, Nalls MA, Ninomiya T, O'Donnell MJ, Psaty BM, Pulit SL, Rannikmäe K, Reiner AP, Rexrode KM, Rice K, Rich SS, Ridker PM, Rost NS, Rothwell PM, Rotter JI, Rundek T, Sacco RL, Sakaue S, Sale MM, Salomaa V, Sapkota BR, Schmidt R, Schmidt CO, Schminke U, Sharma P, Slowik A, Sudlow CLM, Tanislav C, Tatlisumak T, Taylor KD, Thijs VNS, Thorleifsson G, Thorsteinsdottir U, Tiedt S, Trompet S, Tzourio C, van Duijn CM, Walters M, Wareham NJ, Wassertheil-Smoller S, Wilson JG, Wiggins KL, Yang Q, Yusuf S, Bis JC, Pastinen T, Ruusalepp A, Schadt EE, Koplev S, Björkegren JLM, Codoni V, Civelek M, Smith NL, Trégouët DA, Christophersen IE, Roselli C, Lubitz SA, Ellinor PT, Tai ES, Kooner JS, Kato N, He J, van der Harst P, Elliott P, Chambers JC, Takeuchi F, Johnson AD, Sanghera DK, Melander O, Jern C, Strbian D, Fernandez-Cadenas I, Longstreth WT, Rolfs A, Hata J, Woo D, Rosand J, Pare G, Hopewell JC, Saleheen D, Stefansson K, Worrall BB, Kittner SJ, Seshadri S, Fornage M, Markus HS, Howson JMM, Kamatani Y, Debette S, Dichgans M. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. Nat Genet. 2018 04; 50(4):524-537. PMID: 29531354.
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    19. Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS. Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 02 02; 9(1):554. PMID: 29396438.
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    20. Mayran A, Khetchoumian K, Hariri F, Pastinen T, Gauthier Y, Balsalobre A, Drouin J. Pioneer factor Pax7 deploys a stable enhancer repertoire for specification of cell fate. Nat Genet. 2018 02; 50(2):259-269. PMID: 29358650.
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    21. Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS. APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 01 04; 9(1):67. PMID: 29302025.
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    22. Larjo A, Eveleigh R, Kilpeläinen E, Kwan T, Pastinen T, Koskela S, Partanen J. Accuracy of Programs for the Determination of Human Leukocyte Antigen Alleles from Next-Generation Sequencing Data. Front Immunol. 2017; 8:1815. PMID: 29326702.
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    23. Li N, Johnson DC, Weinhold N, Kimber S, Dobbins SE, Mitchell JS, Kinnersley B, Sud A, Law PJ, Orlando G, Scales M, Wardell CP, Försti A, Hoang PH, Went M, Holroyd A, Hariri F, Pastinen T, Meissner T, Goldschmidt H, Hemminki K, Morgan GJ, Kaiser M, Houlston RS. Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism. Cell Rep. 2017 Sep 12; 20(11):2556-2564. PMID: 28903037.
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    24. Nemec S, Luxey M, Jain D, Huang Sung A, Pastinen T, Drouin J. Pitx1 directly modulates the core limb development program to implement hindlimb identity. Development. 2017 09 15; 144(18):3325-3335. PMID: 28807899.
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    25. Quintana AM, Yu HC, Brebner A, Pupavac M, Geiger EA, Watson A, Castro VL, Cheung W, Chen SH, Watkins D, Pastinen T, Skovby F, Appel B, Rosenblatt DS, Shaikh TH. Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. Hum Mol Genet. 2017 08 01; 26(15):2838-2849. PMID: 28449119.
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    26. Hudson M, Bernatsky S, Colmegna I, Lora M, Pastinen T, Klein Oros K, Greenwood CMT. Novel insights into systemic autoimmune rheumatic diseases using shared molecular signatures and an integrative analysis. Epigenetics. 2017 06 03; 12(6):433-440. PMID: 28387599.
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    27. Cheung WA, Shao X, Morin A, Siroux V, Kwan T, Ge B, Aïssi D, Chen L, Vasquez L, Allum F, Guénard F, Bouzigon E, Simon MM, Boulier E, Redensek A, Watt S, Datta A, Clarke L, Flicek P, Mead D, Paul DS, Beck S, Bourque G, Lathrop M, Tchernof A, Vohl MC, Demenais F, Pin I, Downes K, Stunnenberg HG, Soranzo N, Pastinen T, Grundberg E. Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome. Genome Biol. 2017 03 10; 18(1):50. PMID: 28283040.
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    28. Ramsay L, Marchetto MC, Caron M, Chen SH, Busche S, Kwan T, Pastinen T, Gage FH, Bourque G. Conserved expression of transposon-derived non-coding transcripts in primate stem cells. BMC Genomics. 2017 02 28; 18(1):214. PMID: 28245871.
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    29. Hocking TD, Goerner-Potvin P, Morin A, Shao X, Pastinen T, Bourque G. Optimizing ChIP-seq peak detectors using visual labels and supervised machine learning. Bioinformatics. 2017 02 15; 33(4):491-499. PMID: 27797775.
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    30. Ecker S, Chen L, Pancaldi V, Bagger FO, Fernández JM, Carrillo de Santa Pau E, Juan D, Mann AL, Watt S, Casale FP, Sidiropoulos N, Rapin N, Merkel A, Stunnenberg HG, Stegle O, Frontini M, Downes K, Pastinen T, Kuijpers TW, Rico D, Valencia A, Beck S, Soranzo N, Paul DS. Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types. Genome Biol. 2017 01 26; 18(1):18. PMID: 28126036.
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    31. Morin A, Laviolette M, Pastinen T, Boulet LP, Laprise C. Combining omics data to identify genes associated with allergic rhinitis. Clin Epigenetics. 2017; 9:3. PMID: 28149331.
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    32. Hamdi Y, Soucy P, Adoue V, Michailidou K, Canisius S, Lemaçon A, Droit A, Andrulis IL, Anton-Culver H, Arndt V, Baynes C, Blomqvist C, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borresen-Dale AL, Brand JS, Brauch H, Brenner H, Broeks A, Burwinkel B, Chang-Claude J, Couch FJ, Cox A, Cross SS, Czene K, Darabi H, Dennis J, Devilee P, Dörk T, Dos-Santos-Silva I, Eriksson M, Fasching PA, Figueroa J, Flyger H, García-Closas M, Giles GG, Goldberg MS, González-Neira A, Grenaker-Alnæs G, Guénel P, Haeberle L, Haiman CA, Hamann U, Hallberg E, Hooning MJ, Hopper JL, Jakubowska A, Jones M, Kabisch M, Kataja V, Lambrechts D, Le Marchand L, Lindblom A, Lubinski J, Mannermaa A, Maranian M, Margolin S, Marme F, Milne RL, Neuhausen SL, Nevanlinna H, Neven P, Olswold C, Peto J, Plaseska-Karanfilska D, Pylkäs K, Radice P, Rudolph A, Sawyer EJ, Schmidt MK, Shu XO, Southey MC, Swerdlow A, Tollenaar RA, Tomlinson I, Torres D, Truong T, Vachon C, Van Den Ouweland AM, Wang Q, Winqvist R, Zheng W, Benitez J, Chenevix-Trench G, Dunning AM, Pharoah PD, Kristensen V, Hall P, Easton DF, Pastinen T, Nord S, Simard J. Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. Oncotarget. 2016 Dec 06; 7(49):80140-80163. PMID: 27792995.
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    33. 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. Increased DNA methylation variability in type 1 diabetes across three immune effector cell types. Nat Commun. 2016 11 29; 7:13555. PMID: 27898055.
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    34. Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D, Mann AL, Mead D, Bouman H, Riveros-Mckay F, Kostadima MA, Lambourne JJ, Sivapalaratnam S, Downes K, Kundu K, Bomba L, Berentsen K, Bradley JR, Daugherty LC, Delaneau O, Freson K, Garner SF, Grassi L, Guerrero J, Haimel M, Janssen-Megens EM, Kaan A, Kamat M, Kim B, Mandoli A, Marchini J, Martens JHA, Meacham S, Megy K, O'Connell J, Petersen R, Sharifi N, Sheard SM, Staley JR, Tuna S, van der Ent M, Walter K, Wang SY, Wheeler E, Wilder SP, Iotchkova V, Moore C, Sambrook J, Stunnenberg HG, Di Angelantonio E, Kaptoge S, Kuijpers TW, Carrillo-de-Santa-Pau E, Juan D, Rico D, Valencia A, Chen L, Ge B, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yang Y, Guigo R, Beck S, Paul DS, Pastinen T, Bujold D, Bourque G, Frontini M, Danesh J, Roberts DJ, Ouwehand WH, Butterworth AS, Soranzo N. The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Cell. 2016 11 17; 167(5):1415-1429.e19. PMID: 27863252.
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    35. Joly Y, Dyke SOM, Knoppers BM, Pastinen T. Are Data Sharing and Privacy Protection Mutually Exclusive? Cell. 2016 11 17; 167(5):1150-1154. PMID: 27863233.
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    36. 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. Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells. Cell. 2016 11 17; 167(5):1398-1414.e24. PMID: 27863251.
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    37. Bujold D, Morais DAL, Gauthier C, Côté C, Caron M, Kwan T, Chen KC, Laperle J, Markovits AN, Pastinen T, Caron B, Veilleux A, Jacques PÉ, Bourque G. The International Human Epigenome Consortium Data Portal. Cell Syst. 2016 11 23; 3(5):496-499.e2. PMID: 27863956.
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    115. Sigurdsson S, Nordmark G, Garnier S, Grundberg E, Kwan T, Nilsson O, Eloranta ML, Gunnarsson I, Svenungsson E, Sturfelt G, Bengtsson AA, Jönsen A, Truedsson L, Rantapää-Dahlqvist S, Eriksson C, Alm G, Göring HH, Pastinen T, Syvänen AC, Rönnblom L. A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5. Hum Mol Genet. 2008 Sep 15; 17(18):2868-76. PMID: 18579578.
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    116. Richards JB, Rivadeneira F, Inouye M, Pastinen TM, Soranzo N, Wilson SG, Andrew T, Falchi M, Gwilliam R, Ahmadi KR, Valdes AM, Arp P, Whittaker P, Verlaan DJ, Jhamai M, Kumanduri V, Moorhouse M, van Meurs JB, Hofman A, Pols HA, Hart D, Zhai G, Kato BS, Mullin BH, Zhang F, Deloukas P, Uitterlinden AG, Spector TD. Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. Lancet. 2008 May 03; 371(9623):1505-12. PMID: 18455228.
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    117. Grundberg E, Brändström H, Lam KC, Gurd S, Ge B, Harmsen E, Kindmark A, Ljunggren O, Mallmin H, Nilsson O, Pastinen T. Systematic assessment of the human osteoblast transcriptome in resting and induced primary cells. Physiol Genomics. 2008 May 13; 33(3):301-11. PMID: 18334548.
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    118. Grundberg E, Lau EM, Pastinen T, Kindmark A, Nilsson O, Ljunggren O, Mellström D, Orwoll E, Redlund-Johnell I, Holmberg A, Gurd S, Leung PC, Kwok T, Ohlsson C, Mallmin H, Brändström H. Vitamin D receptor 3' haplotypes are unequally expressed in primary human bone cells and associated with increased fracture risk: the MrOS Study in Sweden and Hong Kong. J Bone Miner Res. 2007 Jun; 22(6):832-40. PMID: 17371163.
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    119. Labuda D, Labbé C, Langlois S, Lefebvre JF, Freytag V, Moreau C, Sawicki J, Beaulieu P, Pastinen T, Hudson TJ, Sinnett D. Patterns of variation in DNA segments upstream of transcription start sites. Hum Mutat. 2007 May; 28(5):441-50. PMID: 17274005.
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    120. Tremblay K, Lemire M, Provost V, Pastinen T, Renaud Y, Sandford AJ, Laviolette M, Hudson TJ, Laprise C. Association study between the CX3CR1 gene and asthma. Genes Immun. 2006 Dec; 7(8):632-9. PMID: 17082760.
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    121. Pastinen T, Ge B, Hudson TJ. Influence of human genome polymorphism on gene expression. Hum Mol Genet. 2006 Apr 15; 15 Spec No 1:R9-16. PMID: 16651375.
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    122. Lee PD, Ge B, Greenwood CM, Sinnett D, Fortin Y, Brunet S, Fortin A, Takane M, Skamene E, Pastinen T, Hallett M, Hudson TJ, Sladek R. Mapping cis-acting regulatory variation in recombinant congenic strains. Physiol Genomics. 2006 Apr 13; 25(2):294-302. PMID: 16449383.
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    123. Macdonald SJ, Pastinen T, Genissel A, Cornforth TW, Long AD. A low-cost open-source SNP genotyping platform for association mapping applications. Genome Biol. 2005; 6(12):R105. PMID: 16356268.
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    124. Pastinen T, Ge B, Gurd S, Gaudin T, Dore C, Lemire M, Lepage P, Harmsen E, Hudson TJ. Mapping common regulatory variants to human haplotypes. Hum Mol Genet. 2005 Dec 15; 14(24):3963-71. PMID: 16301213.
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    125. Ge B, Gurd S, Gaudin T, Dore C, Lepage P, Harmsen E, Hudson TJ, Pastinen T. Survey of allelic expression using EST mining. Genome Res. 2005 Nov; 15(11):1584-91. PMID: 16251468.
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    126. Macdonald SJ, Pastinen T, Long AD. The effect of polymorphisms in the enhancer of split gene complex on bristle number variation in a large wild-caught cohort of Drosophila melanogaster. Genetics. 2005 Dec; 171(4):1741-56. PMID: 16143618.
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    127. Pastinen T, Hudson TJ. Cis-acting regulatory variation in the human genome. Science. 2004 Oct 22; 306(5696):647-50. PMID: 15499010.
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    128. Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Brändström H, Beck A, Verner A, Kingsley J, Harmsen E, Labuda D, Morgan K, Vohl MC, Naumova AK, Sinnett D, Hudson TJ. A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics. 2004 Jan 15; 16(2):184-93. PMID: 14583597.
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    129. Genissel A, Pastinen T, Dowell A, Mackay TF, Long AD. No evidence for an association between common nonsynonymous polymorphisms in delta and bristle number variation in natural and laboratory populations of Drosophila melanogaster. Genetics. 2004 Jan; 166(1):291-306. PMID: 15020426.
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    130. Nejentsev S, Laaksonen M, Tienari PJ, Fernandez O, Cordell H, Ruutiainen J, Wikström J, Pastinen T, Kuokkanen S, Hillert J, Ilonen J. Intercellular adhesion molecule-1 K469E polymorphism: study of association with multiple sclerosis. Hum Immunol. 2003 Mar; 64(3):345-9. PMID: 12590979.
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    131. Alfthan G, Laurinen MS, Valsta LM, Pastinen T, Aro A. Folate intake, plasma folate and homocysteine status in a random Finnish population. Eur J Clin Nutr. 2003 Jan; 57(1):81-8. PMID: 12548301.
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    132. Reunanen K, Finnilä S, Laaksonen M, Sumelahti ML, Wikström J, Pastinen T, Kuokkanen S, Saarela J, Uimari P, Ruutiainen J, Ilonen J, Peltonen L, Tienari PJ. Chromosome 19q13 and multiple sclerosis susceptibility in Finland: a linkage and two-stage association study. J Neuroimmunol. 2002 May; 126(1-2):134-42. PMID: 12020965.
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    133. Laaksonen M, Pastinen T, Sjöroos M, Kuokkanen S, Ruutiainen J, Sumelahti ML, Reijonen H, Salonen R, Wikström J, Panelius M, Partanen J, Tienari PJ, Ilonen J. HLA class II associated risk and protection against multiple sclerosis-a Finnish family study. J Neuroimmunol. 2002 Jan; 122(1-2):140-5. PMID: 11777553.
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    134. Pastinen T, Perola M, Ignatius J, Sabatti C, Tainola P, Levander M, Syvänen AC, Peltonen L. Dissecting a population genome for targeted screening of disease mutations. Hum Mol Genet. 2001 Dec 15; 10(26):2961-72. PMID: 11751678.
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    135. Raitio M, Lindroos K, Laukkanen M, Pastinen T, Sistonen P, Sajantila A, Syvänen AC. Y-chromosomal SNPs in Finno-Ugric-speaking populations analyzed by minisequencing on microarrays. Genome Res. 2001 Mar; 11(3):471-82. PMID: 11230171.
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    136. Pastinen T, Raitio M, Lindroos K, Tainola P, Peltonen L, Syvänen AC. A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays. Genome Res. 2000 Jul; 10(7):1031-42. PMID: 10899152.
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    137. Pastinen T, Perola M, Niini P, Terwilliger J, Salomaa V, Vartiainen E, Peltonen L, Syvänen A. Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population. Hum Mol Genet. 1998 Sep; 7(9):1453-62. PMID: 9700201.
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    138. Pastinen T, Liitsola K, Niini P, Salminen M, Syvänen AC. Contribution of the CCR5 and MBL genes to susceptibility to HIV type 1 infection in the Finnish population. AIDS Res Hum Retroviruses. 1998 May 20; 14(8):695-8. PMID: 9618082.
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    139. Tienari PJ, Kuokkanen S, Pastinen T, Wikström J, Sajantila A, Sandberg-Wollheim M, Palo J, Peltonen L. Golli-MBP gene in multiple sclerosis susceptibility. J Neuroimmunol. 1998 Jan; 81(1-2):158-67. PMID: 9521617.
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    140. Pastinen T, Perola M. [DNA chips--a new diagnostic revolution?]. Duodecim. 1998; 114(9):829, 831. PMID: 11524802.
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    141. Wansen K, Pastinen T, Kuokkanen S, Wikström J, Palo J, Peltonen L, Tienari PJ. Immune system genes in multiple sclerosis: genetic association and linkage analyses on TCR beta, IGH, IFN-gamma and IL-1ra/IL-1 beta loci. J Neuroimmunol. 1997 Oct; 79(1):29-36. PMID: 9357444.
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    142. Pastinen T, Kurg A, Metspalu A, Peltonen L, Syvänen AC. Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res. 1997 Jun; 7(6):606-14. PMID: 9199933.
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    143. Pastinen T, Partanen J, Syvänen AC. Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation. Clin Chem. 1996 Sep; 42(9):1391-7. PMID: 8787694.
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