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Tomi Pastinen, MD, 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 Pediatrics
    InstitutionUniversity of Missouri-Kansas City
    DepartmentPediatrics

    TitleResearch Professor of Cancer Biology
    InstitutionUniversity of Kansas Medical Center
    DepartmentCancer Biology


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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. Guitart X, Porubsky D, Yoo D, Dougherty ML, Dishuck PC, Munson KM, Lewis AP, Hoekzema K, Knuth J, Chang S, Pastinen T, Eichler EE. Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans. Genome Res. 2024 Nov 20; 34(11):1798-1810. PMID: 39107043.
      View in: PubMed
    2. Smail C, Ge B, Keever-Keigher MR, Schwendinger-Schreck C, Cheung WA, Johnston JJ, Barrett C, Feldman K, Cohen ASA, Farrow EG, Thiffault I, Grundberg E, Pastinen T. Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. Nat Commun. 2024 Sep 18; 15(1):8196. PMID: 39294130.
      View in: PubMed
    3. Schmitt AD, Sikkink K, Ahmed AA, Melnyk S, Reid D, Van Meter L, Guest EM, Lansdon LA, Pastinen T, Pushel I, Yoo B, Farooqi MS. Evaluation of Hi-C Sequencing for Detection of Gene Fusions in Hematologic and Solid Tumor Pediatric Cancer Samples. Cancers (Basel). 2024 Aug 23; 16(17). PMID: 39272793.
      View in: PubMed
    4. Park J, Cook DE, Chang PC, Kolesnikov A, Brambrink L, Mier JC, Gardner J, McNulty B, Sacco S, Keskus A, Bryant A, Ahmad T, Shetty J, Zhao Y, Tran B, Narzisi G, Helland A, Yoo B, Pushel I, Lansdon LA, Bi C, Walter A, Gibson M, Pastinen T, Farooqi MS, Robine N, Miga KH, Carroll A, Kolmogorov M, Paten B, Shafin K. DeepSomatic: Accurate somatic small variant discovery for multiple sequencing technologies. bioRxiv. 2024 Aug 19. PMID: 39229187.
      View in: PubMed
    5. Keever-Keigher MR, Harvey L, Williams V, Vyhlidal CA, Ahmed AA, Johnston JJ, Louiselle DA, Grundberg E, Pastinen T, Friesen CA, Chevalier R, Smail C, Shakhnovich V. Genomic insights into pediatric intestinal inflammatory and eosinophilic disorders using single-cell RNA-sequencing. Front Immunol. 2024; 15:1420208. PMID: 39192974.
      View in: PubMed
    6. Alstrup M, Cesca F, Krawczun-Rygmaczewska A, L?pez-Men?ndez C, Pose-Utrilla J, Castberg FC, Bjerager MO, Finnila C, Kruer MC, Bakhtiari S, Padilla-Lopez S, Manwaring L, Keren B, Afenjar A, Galatolo D, Scalise R, Santorelli FM, Shillington A, Vezain M, Martinovic J, Stevens C, Gowda VK, Srinivasan VM, Thiffault I, Pastinen T, Baranano K, Lee A, Granadillo J, Glassford MR, Keegan CE, Matthews N, Saugier-Veber P, Iglesias T, ?stergaard E. Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases. Genet Med. 2024 Nov; 26(11):101219. PMID: 39033379.
      View in: PubMed
    7. Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T, Brais B, Zuchner S, Danzi MC. A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nat Genet. 2024 Jul; 56(7):1366-1370. PMID: 38937606.
      View in: PubMed
    8. Zhao K, Oualkacha K, Zeng Y, Shen C, Klein K, Lakhal-Chaieb L, Labbe A, Pastinen T, Hudson M, Colmegna I, Bernatsky S, Greenwood CMT. Addressing dispersion in mis-measured multivariate binomial outcomes: A novel statistical approach for detecting differentially methylated regions in bisulfite sequencing data. Stat Med. 2024 Sep 10; 43(20):3899-3920. PMID: 38932470.
      View in: PubMed
    9. Liu MH, Costa BM, Bianchini EC, Choi U, Bandler RC, Lassen E, Gronska-Peski M, Schwing A, Murphy ZR, Rosenkj?r D, Picciotto S, Bianchi V, Stengs L, Edwards M, Nunes NM, Loh CA, Truong TK, Brand RE, Pastinen T, Wagner JR, Skytte AB, Tabori U, Shoag JE, Evrony GD. DNA mismatch and damage patterns revealed by single-molecule sequencing. Nature. 2024 Jun; 630(8017):752-761. PMID: 38867045.
      View in: PubMed
    10. Jeong H, Dishuck PC, Yoo D, Harvey WT, Munson KM, Lewis AP, Kordosky J, Garcia GH, Yilmaz F, Hallast P, Lee C, Pastinen T, Eichler EE. Structural polymorphism and diversity of human segmental duplications. bioRxiv. 2024 Jun 06. PMID: 38895457.
      View in: PubMed
    11. Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA, Liu B, Majer O, Barton GM. Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. J Exp Med. 2024 Aug 05; 221(8). PMID: 38780621.
      View in: PubMed
    12. LeMaster C, Schwendinger-Schreck C, Ge B, Cheung WA, McLennan R, Johnston JJ, Pastinen T, Smail C. Mapping structural variants to rare disease genes using long-read whole genome sequencing and trait-relevant polygenic scores. medRxiv. 2024 May 16. PMID: 38562793.
      View in: PubMed
    13. Schmitt AD, Sikkink K, Ahmed AA, Melnyk S, Reid D, Van Meter L, Guest EM, Lansdon LA, Pastinen T, Pushel I, Yoo B, Farooqi MS. Evaluation of Hi-C sequencing for the detection of gene fusions in hematologic and solid pediatric cancer samples. medRxiv. 2024 May 12. PMID: 38765974.
      View in: PubMed
    14. Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomm?-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Bacino CA, Lee BH, Chao ??? HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Jun 06; 111(6):1239. PMID: 38723631.
      View in: PubMed
    15. Cohen ASA, Berrios CD, Zion TN, Barrett CM, Moore R, Boillat E, Belden B, Farrow EG, Thiffault I, Zuccarelli BD, Pastinen T. Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations. Am J Hum Genet. 2024 05 02; 111(5):825-832. PMID: 38636509.
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    16. Keskus A, Bryant A, Ahmad T, Yoo B, Aganezov S, Goretsky A, Donmez A, Lansdon LA, Rodriguez I, Park J, Liu Y, Cui X, Gardner J, McNulty B, Sacco S, Shetty J, Zhao Y, Tran B, Narzisi G, Helland A, Cook DE, Chang PC, Kolesnikov A, Carroll A, Molloy EK, Pushel I, Guest E, Pastinen T, Shafin K, Miga KH, Malikic S, Day CP, Robine N, Sahinalp C, Dean M, Farooqi MS, Paten B, Kolmogorov M. Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads. medRxiv. 2024 Mar 26. PMID: 38585974.
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    17. Herbst C, Bothe V, Wegler M, Axer-Schaefer S, Audebert-Bellanger S, Gecz J, Cogne B, Feldman HB, Horn AHC, Hurst ACE, Kelly MA, Kruer MC, Kurolap A, Laquerriere A, Li M, Mark PR, Morawski M, Nizon M, Pastinen T, Polster T, Saugier-Veber P, SeSong J, Sticht H, Stieler JT, Thifffault I, van Eyk CL, Marcorelles P, Vezain-Mouchard M, Abou Jamra R, Oppermann H. Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly. Hum Genet. 2024 Mar; 143(3):455-469. PMID: 38526744.
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    18. Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomm?-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Apr 04; 111(4):805. PMID: 38508193.
      View in: PubMed
    19. Guitart X, Porubsky D, Yoo D, Dougherty ML, Dishuck PC, Munson KM, Lewis AP, Hoekzema K, Knuth J, Chang S, Pastinen T, Eichler EE. Independent expansion, selection and hypervariability of the TBC1D3 gene family in humans. bioRxiv. 2024 Mar 13. PMID: 38654825.
      View in: PubMed
    20. Lougheed DR, Liu H, Aracena KA, Gr?goire R, Pacis A, Pastinen T, Barreiro LB, Joly Y, Bujold D, Bourque G. EpiVar Browser: advanced exploration of epigenomics data under controlled access. Bioinformatics. 2024 03 04; 40(3). PMID: 38449289.
      View in: PubMed
    21. Aracena KA, Lin YL, Luo K, Pacis A, Gona S, Mu Z, Yotova V, Sindeaux R, Pramatarova A, Simon MM, Chen X, Groza C, Lougheed D, Gregoire R, Brownlee D, Boye C, Pique-Regi R, Li Y, He X, Bujold D, Pastinen T, Bourque G, Barreiro LB. Epigenetic variation impacts individual differences in the transcriptional response to influenza infection. Nat Genet. 2024 Mar; 56(3):408-419. PMID: 38424460.
      View in: PubMed
    22. Groza C, Schwendinger-Schreck C, Cheung WA, Farrow EG, Thiffault I, Lake J, Rizzo WB, Evrony G, Curran T, Bourque G, Pastinen T. Pangenome graphs improve the analysis of structural variants in rare genetic diseases. Nat Commun. 2024 Jan 22; 15(1):657. PMID: 38253606.
      View in: PubMed
    23. Smail C, Ge B, Keever-Keigher MR, Schwendinger-Schreck C, Cheung W, Johnston JJ, Barrett C, Feldman K, Cohen ASA, Farrow EG, Thiffault I, Grundberg E, Pastinen T. Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. medRxiv. 2024 Jan 11. PMID: 38260377.
      View in: PubMed
    24. Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomm?-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 01 04; 111(1):96-118. PMID: 38181735.
      View in: PubMed
    25. Dolzhenko E, English A, Dashnow H, De Sena Brandine G, Mokveld T, Rowell WJ, Karniski C, Kronenberg Z, Danzi MC, Cheung WA, Bi C, Farrow E, Wenger A, Chua KP, Mart?nez-Cerde?o V, Bartley TD, Jin P, Nelson DL, Zuchner S, Pastinen T, Quinlan AR, Sedlazeck FJ, Eberle MA. Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 Oct; 42(10):1606-1614. PMID: 38168995.
      View in: PubMed
    26. Macintosh J, Perrier S, Pinard M, Tran LT, Guerrero K, Prasad C, Prasad AN, Pastinen T, Thiffault I, Coulombe B, Bernard G. Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report. Front Neurol. 2023; 14:1254140. PMID: 37915380.
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    27. Farrow E, Jay A, Means J, Younger S, Biswell R, Koseva B, Thiffault I, Pastinen T, Pappas K, Toriello H. Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq. Am J Med Genet A. 2023 12; 191(12):2908-2912. PMID: 37548286.
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    28. Lougheed DR, Liu H, Aracena KA, Gr?goire R, Pacis A, Pastinen T, Barreiro LB, Joly Y, Bujold D, Bourque G. EpiVar Browser: advanced exploration of epigenomics data under controlled access. bioRxiv. 2023 Aug 05. PMID: 37577719.
      View in: PubMed
    29. Chapleau A, Boucher RM, Pastinen T, Thiffault I, Gould PV, Bernard G. Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report. Front Cell Neurosci. 2023; 17:1216487. PMID: 37601282.
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    30. Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, G?mez-Gonz?lez C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST. Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 08 01; 146(8):3162-3171. PMID: 37043503.
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    31. Berrios C, Neal S, Zion T, Pastinen T. Comparing Attitudes About Genomic Privacy and Data Sharing in Adolescents and Parents of Children Enrolled in a Genomic Research Repository. AJOB Empir Bioeth. 2024; 15(1):33-40. PMID: 37487180.
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    32. Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, ?stergaard E, Nazaryan-Petersen L, Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabe de Angelis M, H?lter SM, Cheung HH, Gu S, Lupski JR. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 08 03; 110(8):1394-1413. PMID: 37467750.
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    33. Potic A, Perrier S, Radovic T, Gavrilovic S, Ostojic J, Tran LT, Thiffault I, Pastinen T, Schiffmann R, Bernard G. Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature. Orphanet J Rare Dis. 2023 Jul 13; 18(1):187. PMID: 37443037.
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    34. Pellerin D, Gobbo GD, Couse M, Dolzhenko E, Dicaire MJ, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Lamont PJ, Laing NG, Renaud M, Ravenscroft G, Houlden H, Synofzik M, Eberle MA, Boycott KM, Pastinen T, Brais B, Zuchner S, Danzi MC. A common flanking variant is associated with enhanced meiotic stability of the FGF14 -SCA27B locus. bioRxiv. 2023 Jun 30. PMID: 37425777.
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    35. Tucker MH, Yu W, Menden H, Xia S, Schreck CF, Gibson M, Louiselle D, Pastinen T, Raje N, Sampath V. IRF7 and UNC93B1 variants in an infant with recurrent herpes simplex virus infection. J Clin Invest. 2023 06 01; 133(11). PMID: 37097753.
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    36. Macintosh J, Thiffault I, Pastinen T, Sztriha L, Bernard G. A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy. Child Neurol Open. 2023 Jan-Dec; 10:2329048X231176673. PMID: 37284702.
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    37. Cheung WA, Johnson AF, Rowell WJ, Farrow E, Hall R, Cohen ASA, Means JC, Zion TN, Portik DM, Saunders CT, Koseva B, Bi C, Truong TK, Schwendinger-Schreck C, Yoo B, Johnston JJ, Gibson M, Evrony G, Rizzo WB, Thiffault I, Younger ST, Curran T, Wenger AM, Grundberg E, Pastinen T. Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort. Nat Commun. 2023 05 29; 14(1):3090. PMID: 37248219.
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    38. LeMaster C, Pierce SH, Geanes ES, Khanal S, Elliott SS, Scott AB, Louiselle DA, McLennan R, Maulik D, Lewis T, Pastinen T, Bradley T. The cellular and immunological dynamics of early and transitional human milk. Commun Biol. 2023 05 18; 6(1):539. PMID: 37202439.
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    39. Kane NJ, Cohen ASA, Berrios C, Jones B, Pastinen T, Hoffman MA. Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment. Genet Med. 2023 09; 25(9):100895. PMID: 37194653.
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    40. Fu Q, Cheung WA, Majnik AV, Ke X, Pastinen T, Lane RH. Adverse Maternal Environments Perturb Hepatic DNA Methylome and Transcriptome Prior to the Adult-Onset Non-Alcoholic Fatty Liver Disease in Mouse Offspring. Nutrients. 2023 Apr 30; 15(9). PMID: 37432267.
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    41. Groza C, Chen X, Pacis A, Simon MM, Pramatarova A, Aracena KA, Pastinen T, Barreiro LB, Bourque G. Genome graphs detect human polymorphisms in active epigenomic state during influenza infection. Cell Genom. 2023 May 10; 3(5):100294. PMID: 37228750.
      View in: PubMed
    42. Chen X, Pacis A, Aracena KA, Gona S, Kwan T, Groza C, Lin YL, Sindeaux R, Yotova V, Pramatarova A, Simon MM, Pastinen T, Barreiro LB, Bourque G. Transposable elements are associated with the variable response to influenza infection. Cell Genom. 2023 May 10; 3(5):100292. PMID: 37228757.
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    43. Perrier S, Guerrero K, Tran LT, Michell-Robinson MA, Legault G, Brais B, Sylvain M, Dorman J, Demos M, K?hler W, Pastinen T, Thiffault I, Bernard G. Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing. Front Neurol. 2023; 14:1148377. PMID: 37077564.
      View in: PubMed
    44. Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Pichon JL, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Pichon AD, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Network UD, Bacino CA, Lee BH, Chao HT. Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy. medRxiv. 2023 Mar 29. PMID: 37034625.
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    45. Liu MH, Costa B, Choi U, Bandler RC, Lassen E, Gronska-Peski M, Schwing A, Murphy ZR, Rosenkj?r D, Picciotto S, Bianchi V, Stengs L, Edwards M, Loh CA, Truong TK, Brand RE, Pastinen T, Wagner JR, Skytte AB, Tabori U, Shoag JE, Evrony GD. Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing. bioRxiv. 2023 Feb 19. PMID: 36824744.
      View in: PubMed
    46. Zion TN, Berrios CD, Cohen ASA, Bartik L, Cross LA, Engleman KL, Fleming EA, Gadea RN, Hughes SS, Jenkins JL, Kussmann J, Lawson C, Schwager C, Strenk ME, Welsh H, Rush ET, Amudhavalli SM, Sullivan BR, Zhou D, Gannon JL, Heese BA, Moore R, Boillat E, Biswell RL, Louiselle DA, Puckett LMB, Beyer S, Neal SH, Sierant V, McBeth M, Belden B, Walter AM, Gibson M, Cheung WA, Johnston JJ, Thiffault I, Farrow EG, Grundberg E, Pastinen T. Insurance denials and diagnostic rates in a pediatric genomic research cohort. Genet Med. 2023 05; 25(5):100020. PMID: 36718845.
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    47. Chen X, Harting J, Farrow E, Thiffault I, Kasperaviciute D, Hoischen A, Gilissen C, Pastinen T, Eberle MA. Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing. Am J Hum Genet. 2023 02 02; 110(2):240-250. PMID: 36669496.
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    48. Kolvenbach CM, Felger T, Schierbaum L, Thiffault I, Pastinen T, Szczepanska M, Zaniew M, Adamczyk P, Bayat A, Yilmaz ?, Lindenberg TT, Thiele H, Hildebrandt F, Hinderhofer K, Moog U, Hilger AC, Sullivan B, Bartik L, Gnys P, Grote P, Odermatt B, Reutter HM, Dworschak GC. X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems. J Med Genet. 2023 06; 60(6):587-596. PMID: 36379543.
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    49. Ningappa M, Shao X, Ashokkumar C, Xu Q, Zeevi A, Grundberg E, Pastinen T, Sindhi R. The Role of Dynamic DNA Methylation in Liver Transplant Rejection in Children. Transplant Direct. 2022 Nov; 8(11):e1394. PMID: 36259078.
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    50. Fraley ER, Khanal S, Pierce SH, LeMaster CA, McLennan R, Pastinen T, Bradley T. Effects of Prior Infection with SARS-CoV-2 on B Cell Receptor Repertoire Response during Vaccination. Vaccines (Basel). 2022 Sep 06; 10(9). PMID: 36146555.
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    51. Fraley E, LeMaster C, Khanal S, Banerjee D, Pastinen T, Grundberg E, Selvarangan R, Bradley T. The Impact of Prior Infection and Age on Antibody Persistence After Severe Acute Respiratory Syndrome Coronavirus 2 Messenger RNA Vaccine. Clin Infect Dis. 2022 08 24; 75(1):e902-e904. PMID: 34551091.
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    52. Bonkowsky JL, Pastinen T, White P. The post-diagnostics world: charting a path for pediatric genomic medicine in the twenty-first century. Pediatr Res. 2023 02; 93(3):457-459. PMID: 35690684.
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    53. Shao X, Le Stunff C, Cheung W, Kwan T, Lathrop M, Pastinen T, Bougn?res P. Differentially methylated CpGs in response to growth hormone administration in children with idiopathic short stature. Clin Epigenetics. 2022 05 18; 14(1):65. PMID: 35585611.
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    54. McQuerry JA, Mclaird M, Hartin SN, Means JC, Johnston J, Pastinen T, Younger ST. Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients. Sci Rep. 2022 05 09; 12(1):7576. PMID: 35534523.
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    85. 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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    98. Larjo A, Eveleigh R, Kilpel?inen 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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    99. Li N, Johnson DC, Weinhold N, Kimber S, Dobbins SE, Mitchell JS, Kinnersley B, Sud A, Law PJ, Orlando G, Scales M, Wardell CP, F?rsti 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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    100. 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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    101. 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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    102. 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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    178. Richards JB, Waterworth D, O'Rahilly S, Hivert MF, Loos RJ, Perry JR, Tanaka T, Timpson NJ, Semple RK, Soranzo N, Song K, Rocha N, Grundberg E, Dupuis J, Florez JC, Langenberg C, Prokopenko I, Saxena R, Sladek R, Aulchenko Y, Evans D, Waeber G, Erdmann J, Burnett MS, Sattar N, Devaney J, Willenborg C, Hingorani A, Witteman JC, Vollenweider P, Glaser B, Hengstenberg C, Ferrucci L, Melzer D, Stark K, Deanfield J, Winogradow J, Grassl M, Hall AS, Egan JM, Thompson JR, Ricketts SL, K?nig IR, Reinhard W, Grundy S, Wichmann HE, Barter P, Mahley R, Kesaniemi YA, Rader DJ, Reilly MP, Epstein SE, Stewart AF, Van Duijn CM, Schunkert H, Burling K, Deloukas P, Pastinen T, Samani NJ, McPherson R, Davey Smith G, Frayling TM, Wareham NJ, Meigs JB, Mooser V, Spector TD. A genome-wide association study reveals variants in ARL15 that influence adiponectin levels. PLoS Genet. 2009 Dec; 5(12):e1000768. PMID: 20011104.
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    179. Wilson SG, Jones MR, Mullin BH, Dick IM, Richards JB, Pastinen TM, Grundberg E, Ljunggren O, Surdulescu GL, Dudbridge F, Elliott KS, Cervino AC, Spector TD, Prince RL. Common sequence variation in FLNB regulates bone structure in women in the general population and FLNB mRNA expression in osteoblasts in vitro. J Bone Miner Res. 2009 Dec; 24(12):1989-97. PMID: 19453265.
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    180. Ge B, Pokholok DK, Kwan T, Grundberg E, Morcos L, Verlaan DJ, Le J, Koka V, Lam KC, Gagn? V, Dias J, Hoberman R, Montpetit A, Joly MM, Harvey EJ, Sinnett D, Beaulieu P, Hamon R, Graziani A, Dewar K, Harmsen E, Majewski J, G?ring HH, Naumova AK, Blanchette M, Gunderson KL, Pastinen T. Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nat Genet. 2009 Nov; 41(11):1216-22. PMID: 19838192.
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    181. Rivadeneira F, Styrk?rsdottir U, Estrada K, Halld?rsson BV, Hsu YH, Richards JB, Zillikens MC, Kavvoura FK, Amin N, Aulchenko YS, Cupples LA, Deloukas P, Demissie S, Grundberg E, Hofman A, Kong A, Karasik D, van Meurs JB, Oostra B, Pastinen T, Pols HA, Sigurdsson G, Soranzo N, Thorleifsson G, Thorsteinsdottir U, Williams FM, Wilson SG, Zhou Y, Ralston SH, van Duijn CM, Spector T, Kiel DP, Stefansson K, Ioannidis JP, Uitterlinden AG. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet. 2009 Nov; 41(11):1199-206. PMID: 19801982.
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    182. Qu HQ, Verlaan DJ, Ge B, Lu Y, Lam KC, Grabs R, Harmsen E, Hudson TJ, Hakonarson H, Pastinen T, Polychronakos C. A cis-acting regulatory variant in the IL2RA locus. J Immunol. 2009 Oct 15; 183(8):5158-62. PMID: 19794070.
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    183. Verlaan DJ, Berlivet S, Hunninghake GM, Madore AM, Larivi?re M, Moussette S, Grundberg E, Kwan T, Ouimet M, Ge B, Hoberman R, Swiatek M, Dias J, Lam KC, Koka V, Harmsen E, Soto-Quiros M, Avila L, Celed?n JC, Weiss ST, Dewar K, Sinnett D, Laprise C, Raby BA, Pastinen T, Naumova AK. Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. Am J Hum Genet. 2009 Sep; 85(3):377-93. PMID: 19732864.
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    184. Kwan T, Grundberg E, Koka V, Ge B, Lam KC, Dias C, Kindmark A, Mallmin H, Ljunggren O, Rivadeneira F, Estrada K, van Meurs JB, Uitterlinden A, Karlsson M, Ohlsson C, Mellstr?m D, Nilsson O, Pastinen T, Majewski J. Tissue effect on genetic control of transcript isoform variation. PLoS Genet. 2009 Aug; 5(8):e1000608. PMID: 19680542.
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    185. Grundberg E, Kwan T, Ge B, Lam KC, Koka V, Kindmark A, Mallmin H, Dias J, Verlaan DJ, Ouimet M, Sinnett D, Rivadeneira F, Estrada K, Hofman A, van Meurs JM, Uitterlinden A, Beaulieu P, Graziani A, Harmsen E, Ljunggren O, Ohlsson C, Mellstr?m D, Karlsson MK, Nilsson O, Pastinen T. Population genomics in a disease targeted primary cell model. Genome Res. 2009 Nov; 19(11):1942-52. PMID: 19654370.
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    186. Hoberman R, Dias J, Ge B, Harmsen E, Mayhew M, Verlaan DJ, Kwan T, Dewar K, Blanchette M, Pastinen T. A probabilistic approach for SNP discovery in high-throughput human resequencing data. Genome Res. 2009 Sep; 19(9):1542-52. PMID: 19605794.
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    187. Falchi M, Bataille V, Hayward NK, Duffy DL, Bishop JA, Pastinen T, Cervino A, Zhao ZZ, Deloukas P, Soranzo N, Elder DE, Barrett JH, Martin NG, Bishop DT, Montgomery GW, Spector TD. Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. Nat Genet. 2009 Aug; 41(8):915-9. PMID: 19578365.
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    188. Lerner-Ellis JP, Anastasio N, Liu J, Coelho D, Suormala T, Stucki M, Loewy AD, Gurd S, Grundberg E, Morel CF, Watkins D, Baumgartner MR, Pastinen T, Rosenblatt DS, Fowler B. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Hum Mutat. 2009 Jul; 30(7):1072-81. PMID: 19370762.
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    189. Loewy AD, Niles KM, Anastasio N, Watkins D, Lavoie J, Lerner-Ellis JP, Pastinen T, Trasler JM, Rosenblatt DS. Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence. Mol Genet Metab. 2009 Apr; 96(4):261-7. PMID: 19200761.
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    190. Verlaan DJ, Ge B, Grundberg E, Hoberman R, Lam KC, Koka V, Dias J, Gurd S, Martin NW, Mallmin H, Nilsson O, Harmsen E, Dewar K, Kwan T, Pastinen T. Targeted screening of cis-regulatory variation in human haplotypes. Genome Res. 2009 Jan; 19(1):118-27. PMID: 18971308.
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    191. Sigurdsson S, Nordmark G, Garnier S, Grundberg E, Kwan T, Nilsson O, Eloranta ML, Gunnarsson I, Svenungsson E, Sturfelt G, Bengtsson AA, J?nsen A, Truedsson L, Rantap??-Dahlqvist S, Eriksson C, Alm G, G?ring HH, Pastinen T, Syv?nen AC, R?nnblom 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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    192. 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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    193. Grundberg E, Br?ndstr?m 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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    194. Grundberg E, Lau EM, Pastinen T, Kindmark A, Nilsson O, Ljunggren O, Mellstr?m D, Orwoll E, Redlund-Johnell I, Holmberg A, Gurd S, Leung PC, Kwok T, Ohlsson C, Mallmin H, Br?ndstr?m 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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    195. Labuda D, Labb? 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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    196. 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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    197. 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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    198. 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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    199. 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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    200. 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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    201. 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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    202. 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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    203. 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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    204. Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Br?ndstr?m 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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    205. 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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    206. Nejentsev S, Laaksonen M, Tienari PJ, Fernandez O, Cordell H, Ruutiainen J, Wikstr?m 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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    207. 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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    208. Reunanen K, Finnil? S, Laaksonen M, Sumelahti ML, Wikstr?m 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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    209. Laaksonen M, Pastinen T, Sj?roos M, Kuokkanen S, Ruutiainen J, Sumelahti ML, Reijonen H, Salonen R, Wikstr?m 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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    210. Pastinen T, Perola M, Ignatius J, Sabatti C, Tainola P, Levander M, Syv?nen 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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    211. Raitio M, Lindroos K, Laukkanen M, Pastinen T, Sistonen P, Sajantila A, Syv?nen 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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    212. Pastinen T, Raitio M, Lindroos K, Tainola P, Peltonen L, Syv?nen 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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    213. Pastinen T, Perola M, Niini P, Terwilliger J, Salomaa V, Vartiainen E, Peltonen L, Syv?nen 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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    214. Pastinen T, Liitsola K, Niini P, Salminen M, Syv?nen 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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    215. Tienari PJ, Kuokkanen S, Pastinen T, Wikstr?m 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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    216. Pastinen T, Perola M. [DNA chips--a new diagnostic revolution?]. Duodecim. 1998; 114(9):829, 831. PMID: 11524802.
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    217. Wansen K, Pastinen T, Kuokkanen S, Wikstr?m 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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    218. Pastinen T, Kurg A, Metspalu A, Peltonen L, Syv?nen 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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    219. Pastinen T, Partanen J, Syv?nen 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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