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) at Children’s Mercy Hospital, Kansas City, MO 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

  • Cheung, WA, Johnson, AF, Rowell, WJ, Farrow, E, Hall, R, Cohen, ASA et al.. Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort. Nat Commun. 2023;14 (1):3090. doi: 10.1038/s41467-023-38782-1. PubMed PMID:37248219 PubMed Central PMC10226990.
  • Chen, X, Pacis, A, Aracena, KA, Gona, S, Kwan, T, Groza, C et al.. Transposable elements are associated with the variable response to influenza infection. Cell Genom. 2023;3 (5):100292. doi: 10.1016/j.xgen.2023.100292. PubMed PMID:37228757 PubMed Central PMC10203045.
  • Groza, C, Chen, X, Pacis, A, Simon, MM, Pramatarova, A, Aracena, KA et al.. Genome graphs detect human polymorphisms in active epigenomic state during influenza infection. Cell Genom. 2023;3 (5):100294. doi: 10.1016/j.xgen.2023.100294. PubMed PMID:37228750 PubMed Central PMC10203048.
  • LeMaster, C, Pierce, SH, Geanes, ES, Khanal, S, Elliott, SS, Scott, AB et al.. The cellular and immunological dynamics of early and transitional human milk. Commun Biol. 2023;6 (1):539. doi: 10.1038/s42003-023-04910-2. PubMed PMID:37202439 PubMed Central PMC10195133.
  • Tucker, MH, Yu, W, Menden, H, Xia, S, Schreck, CF, Gibson, M et al.. IRF7 and UNC93B1 variants in an infant with recurrent herpes simplex virus infection. J Clin Invest. 2023;133 (11):. doi: 10.1172/JCI154016. PubMed PMID:37097753 PubMed Central PMC10231989.
  • Perrier, S, Guerrero, K, Tran, LT, Michell-Robinson, MA, Legault, G, Brais, B et al.. Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing. Front Neurol. 2023;14 :1148377. doi: 10.3389/fneur.2023.1148377. PubMed PMID:37077564 PubMed Central PMC10108901.
  • Calame, DG, Moreno Vadillo, C, Berger, S, Lotze, T, Shinawi, M, Poupak, J et al.. Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023; :. doi: 10.1093/brain/awad124. PubMed PMID:37043503 .
  • Paul, MS, Michener, SL, Pan, H, Pfliger, JM, Rosenfeld, JA, Lerma, VC et al.. Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy. medRxiv. 2023; :. doi: 10.1101/2023.03.27.23287689. PubMed PMID:37034625 PubMed Central PMC10081396.
  • Thorsen, SU, Liu, X, Kataria, Y, Mandrup-Poulsen, T, Kaur, S, Uusitalo, U et al.. Interaction Between Dietary Iron Intake and Genetically Determined Iron Overload: Risk of Islet Autoimmunity and Progression to Type 1 Diabetes in the TEDDY Study. Diabetes Care. 2023;46 (5):1014-1018. doi: 10.2337/dc22-1359. PubMed PMID:36867433 PubMed Central PMC10154662.
  • Liu, MH, Costa, B, Choi, U, Bandler, RC, Lassen, E, Grońska-Pęski, M et al.. Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing. bioRxiv. 2023; :. doi: 10.1101/2023.02.19.526140. PubMed PMID:36824744 PubMed Central PMC9949150.
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