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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. 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
    2. 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
    3. 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 Jan 04; 111(1):96-118. PMID: 38181735.
      View in: PubMed
    4. 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 Jan 02. PMID: 38168995.
      View in: PubMed
    5. 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.
      View in: PubMed
    6. 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.
      View in: PubMed
    7. 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
    8. 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.
      View in: PubMed
    9. 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.
      View in: PubMed
    10. 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.
      View in: PubMed
    11. 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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    12. 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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    13. 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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    14. 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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    15. 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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    16. 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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    17. 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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    18. 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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    19. 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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    20. 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.
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    21. 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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    22. 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.
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    23. 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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    24. 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.
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    25. 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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    26. 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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    27. 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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    28. 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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    29. 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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    30. 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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    31. 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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    32. 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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    33. 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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    34. Oussalah A, Siblini Y, Hergalant S, Ch?ry C, Rouyer P, Cavicchi C, Guerrini R, Morange PE, Tr?gou?t D, Pupavac M, Watkins D, Pastinen T, Chung WK, Ficicioglu C, Feillet F, Froese DS, Baumgartner MR, Benoist JF, Majewski J, Morrone A, Rosenblatt DS, Gu?ant JL. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. Clin Epigenetics. 2022 04 19; 14(1):52. PMID: 35440018.
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    35. Cohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L, Baybayan P, Belden B, Berrios CD, Biswell RL, Buczkowicz P, Buske O, Chakraborty S, Cheung WA, Coffman KA, Cooper AM, Cross LA, Curran T, Dang TTT, Elfrink MM, Engleman KL, Fecske ED, Fieser C, Fitzgerald K, Fleming EA, Gadea RN, Gannon JL, Gelineau-Morel RN, Gibson M, Goldstein J, Grundberg E, Halpin K, Harvey BS, Heese BA, Hein W, Herd SM, Hughes SS, Ilyas M, Jacobson J, Jenkins JL, Jiang S, Johnston JJ, Keeler K, Korlach J, Kussmann J, Lambert C, Lawson C, Le Pichon JB, Leeder JS, Little VC, Louiselle DA, Lypka M, McDonald BD, Miller N, Modrcin A, Nair A, Neal SH, Oermann CM, Pacicca DM, Pawar K, Posey NL, Price N, Puckett LMB, Quezada JF, Raje N, Rowell WJ, Rush ET, Sampath V, Saunders CJ, Schwager C, Schwend RM, Shaffer E, Smail C, Soden S, Strenk ME, Sullivan BR, Sweeney BR, Tam-Williams JB, Walter AM, Welsh H, Wenger AM, Willig LK, Yan Y, Younger ST, Zhou D, Zion TN, Thiffault I, Pastinen T. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes. Genet Med. 2022 06; 24(6):1336-1348. PMID: 35305867.
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    36. Kundu K, Tardaguila M, Mann AL, Watt S, Ponstingl H, Vasquez L, Von Schiller D, Morrell NW, Stegle O, Pastinen T, Sawcer SJ, Anderson CA, Walter K, Soranzo N. Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases. Nat Genet. 2022 03; 54(3):251-262. PMID: 35288711.
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    37. Goldman JL, Miller JO, Miller N, Eveleigh R, Gibson A, Phillips EJ, Pastinen T. HLA-B*07:02 and HLA-C*07:02 are associated with trimethoprim-sulfamethoxazole respiratory failure. Pharmacogenomics J. 2022 03; 22(2):124-129. PMID: 35169303.
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    38. ?koric-Milosavljevic D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T, Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, Bezzina CR. Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. Genet Med. 2021 Oct; 23(10):2013. PMID: 34522030.
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    39. Zeng Y, Zhao K, Oros Klein K, Shao X, Fritzler MJ, Hudson M, Colmegna I, Pastinen T, Bernatsky S, Greenwood CMT. Thousands of CpGs Show DNA Methylation Differences in ACPA-Positive Individuals. Genes (Basel). 2021 08 29; 12(9). PMID: 34573331.
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    40. Winkley K, Banerjee D, Bradley T, Koseva B, Cheung WA, Selvarangan R, Pastinen T, Grundberg E. Immune cell residency in the nasal mucosa may partially explain respiratory disease severity across the age range. Sci Rep. 2021 08 05; 11(1):15927. PMID: 34354210.
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    41. Berrios C, Hurley EA, Willig L, Thiffault I, Saunders C, Pastinen T, Goggin K, Farrow E. Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care. Genet Med. 2021 12; 23(12):2289-2299. PMID: 34257423.
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    42. ?koric-Milosavljevic D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T, Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, Bezzina CR. Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. Genet Med. 2021 10; 23(10):1952-1960. PMID: 34113005.
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    43. Watt S, Vasquez L, Walter K, Mann AL, Kundu K, Chen L, Sims Y, Ecker S, Burden F, Farrow S, Farr B, Iotchkova V, Elding H, Mead D, Tardaguila M, Ponstingl H, Richardson D, Datta A, Flicek P, Clarke L, Downes K, Pastinen T, Fraser P, Frontini M, Javierre BM, Spivakov M, Soranzo N. Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease. Nat Commun. 2021 04 16; 12(1):2298. PMID: 33863903.
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    44. Bradley T, Grundberg E, Selvarangan R, LeMaster C, Fraley E, Banerjee D, Belden B, Louiselle D, Nolte N, Biswell R, Pastinen T, Myers A, Schuster J. Antibody Responses after a Single Dose of SARS-CoV-2 mRNA Vaccine. N Engl J Med. 2021 05 20; 384(20):1959-1961. PMID: 33755375.
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    45. Winkley K, Koseva B, Banerjee D, Cheung W, Selvarangan R, Pastinen T, Grundberg E. High-resolution epigenome analysis in nasal samples derived from children with respiratory viral infections reveals striking changes upon SARS-CoV-2 infection. medRxiv. 2021 Mar 11. PMID: 33758880.
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    46. Lutz PE, Chay MA, Pacis A, Chen GG, Aouabed Z, Maffioletti E, Th?roux JF, Grenier JC, Yang J, Aguirre M, Ernst C, Redensek A, van Kempen LC, Yalcin I, Kwan T, Mechawar N, Pastinen T, Turecki G. Non-CG methylation and multiple histone profiles associate child abuse with immune and small GTPase dysregulation. Nat Commun. 2021 02 18; 12(1):1132. PMID: 33602921.
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    47. Cummings L, Tucker M, Gibson M, Myers A, Pastinen T, Johnston J, Farrow E, Sampath V. Rare Genetic Variants in Immune Genes and Neonatal Herpes Simplex Viral Infections. Pediatrics. 2021 01; 147(1). PMID: 33386334.
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    48. Cao M, Shao X, Chan P, Cheung W, Kwan T, Pastinen T, Robaire B. High-resolution analyses of human sperm dynamic methylome reveal thousands of novel age-related epigenetic alterations. Clin Epigenetics. 2020 12 14; 12(1):192. PMID: 33317634.
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    49. B?langer ?, Madore AM, Boucher-Lafleur AM, Simon MM, Kwan T, Pastinen T, Laprise C. Eosinophil microRNAs Play a Regulatory Role in Allergic Diseases Included in the Atopic March. Int J Mol Sci. 2020 Nov 27; 21(23). PMID: 33260893.
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    50. Dyke SOM, Ennis CA, Joly Y, Walter J, Siebert R, Pastinen T. Communicating science: epigenetics in the spotlight. Environ Epigenet. 2020; 6(1):dvaa015. PMID: 33240528.
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    51. Chen L, Yang R, Kwan T, Tang C, Watt S, Zhang Y, Bourque G, Ge B, Downes K, Frontini M, Ouwehand WH, Lin JW, Soranzo N, Pastinen T, Chen L. Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells. Sci Data. 2020 11 09; 7(1):376. PMID: 33168820.
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    52. Zhao K, Oualkacha K, Lakhal-Chaieb L, Labbe A, Klein K, Ciampi A, Hudson M, Colmegna I, Pastinen T, Zhang T, Daley D, Greenwood CMT. A novel statistical method for modeling covariate effects in bisulfite sequencing derived measures of DNA methylation. Biometrics. 2021 06; 77(2):424-438. PMID: 32438470.
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    53. Groza C, Kwan T, Soranzo N, Pastinen T, Bourque G. Personalized and graph genomes reveal missing signal in epigenomic data. Genome Biol. 2020 05 25; 21(1):124. PMID: 32450900.
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    54. Madore AM, Pain L, Boucher-Lafleur AM, Morin A, Meloche J, Simon MM, Ge B, Kwan T, Cheung WA, Pastinen T, Laprise C. Asthma-associated polymorphisms in 17q12-21 locus modulate methylation and gene expression of GSDMA in na?ve CD4+ T cells. J Genet Genomics. 2020 03 20; 47(3):171-174. PMID: 32312674.
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    55. Vijay J, Gauthier MF, Biswell RL, Louiselle DA, Johnston JJ, Cheung WA, Belden B, Pramatarova A, Biertho L, Gibson M, Simon MM, Djambazian H, Staffa A, Bourque G, Laitinen A, Nystedt J, Vohl MC, Fraser JD, Pastinen T, Tchernof A, Grundberg E. Single-cell analysis of human adipose tissue identifies depot and disease specific cell types. Nat Metab. 2020 01; 2(1):97-109. PMID: 32066997.
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    56. 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 01; 43(1):5-12. PMID: 31753960.
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    57. 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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    58. 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 07 31; 11(1):110. PMID: 31366403.
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    158. 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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    181. 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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    184. 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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    185. 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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    186. 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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    187. 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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    188. 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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    189. 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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    190. 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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    191. 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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    192. 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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    193. 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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    194. 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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    195. 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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    196. 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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    197. 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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