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Tomi Pastinen

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Tomi Pastinen

Director, Center for Pediatric Genomic Medicine, Children’s Mercy Kansas City
Adjunct Professor, Department of Human Genetics

Email: tpastinen@cmh.edu

Children’s Mercy Hospital
2401 Gillham Rd
Kansas City MO 64108

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.

Recent Publications

  • Shao, X, Le Stunff, C, Cheung, W, Kwan, T, Lathrop, M, Pastinen, T et al.. Differentially methylated CpGs in response to growth hormone administration in children with idiopathic short stature. Clin Epigenetics. 2022;14 (1):65. doi: 10.1186/s13148-022-01281-z. PubMed PMID:35585611 .
  • McQuerry, JA, Mclaird, M, Hartin, SN, Means, JC, Johnston, J, Pastinen, T et al.. Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients. Sci Rep. 2022;12 (1):7576. doi: 10.1038/s41598-022-11589-8. PubMed PMID:35534523 PubMed Central PMC9085742.
  • Oussalah, A, Siblini, Y, Hergalant, S, Chéry, C, Rouyer, P, Cavicchi, C et al.. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. Clin Epigenetics. 2022;14 (1):52. doi: 10.1186/s13148-022-01271-1. PubMed PMID:35440018 PubMed Central PMC9020039.
  • Segerstad, EMHA, Liu, X, Uusitalo, U, Agardh, D, Aronsson, CA, TEDDY study group et al.. Sources of dietary gluten in the first two years of life and associations with celiac disease autoimmunity and celiac disease in Swedish genetically predisposed children: TEDDY study. Am J Clin Nutr. 2022; :. doi: 10.1093/ajcn/nqac086. PubMed PMID:35394004 .
  • Cohen, ASA, Farrow, EG, Abdelmoity, AT, Alaimo, JT, Amudhavalli, SM, Anderson, JT et al.. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes. Genet Med. 2022; :. doi: 10.1016/j.gim.2022.02.007. PubMed PMID:35305867 .
  • Törn, C, Liu, X, Onengut-Gumuscu, S, Counts, KM, Moreno, JL, Remedios, CL et al.. Telomere length is not a main factor for the development of islet autoimmunity and type 1 diabetes in the TEDDY study. Sci Rep. 2022;12 (1):4516. doi: 10.1038/s41598-022-08058-7. PubMed PMID:35296692 PubMed Central PMC8927592.
  • Kundu, K, Tardaguila, M, Mann, AL, Watt, S, Ponstingl, H, Vasquez, L et al.. Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases. Nat Genet. 2022;54 (3):251-262. doi: 10.1038/s41588-022-01025-y. PubMed PMID:35288711 .
  • Goldman, JL, Miller, JO, Miller, N, Eveleigh, R, Gibson, A, Phillips, EJ et al.. HLA-B*07:02 and HLA-C*07:02 are associated with trimethoprim-sulfamethoxazole respiratory failure. Pharmacogenomics J. 2022;22 (2):124-129. doi: 10.1038/s41397-022-00266-8. PubMed PMID:35169303 .
  • Jacobsen, LM, Vehik, K, Veijola, R, Warncke, K, Toppari, J, Steck, AK et al.. Heterogeneity of DKA Incidence and Age-Specific Clinical Characteristics in Children Diagnosed With Type 1 Diabetes in the TEDDY Study. Diabetes Care. 2022;45 (3):624-633. doi: 10.2337/dc21-0422. PubMed PMID:35043162 PubMed Central PMC8918232.
  • Melin, J, Lynch, KF, Lundgren, M, Aronsson, CA, Larsson, HE, Johnson, SB et al.. Is staff consistency important to parents' satisfaction in a longitudinal study of children at risk for type 1 diabetes: the TEDDY study. BMC Endocr Disord. 2022;22 (1):19. doi: 10.1186/s12902-021-00929-w. PubMed PMID:35012530 PubMed Central PMC8744326.
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