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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) 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

  • Herbst, C, Bothe, V, Wegler, M, Axer-Schaefer, S, Audebert-Bellanger, S, Gecz, J et al.. Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly. Hum Genet. 2024; :. doi: 10.1007/s00439-024-02655-4. PubMed PMID:38526744 .
  • Paul, MS, Michener, SL, Pan, H, Chan, H, Pfliger, JM, Rosenfeld, JA et al.. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024; :. doi: 10.1016/j.ajhg.2024.03.009. PubMed PMID:38508193 .
  • Lougheed, DR, Liu, H, Aracena, KA, Grégoire, R, Pacis, A, Pastinen, T et al.. EpiVar Browser: advanced exploration of epigenomics data under controlled access. Bioinformatics. 2024;40 (3):. doi: 10.1093/bioinformatics/btae136. PubMed PMID:38449289 PubMed Central PMC10963074.
  • Aracena, KA, Lin, YL, Luo, K, Pacis, A, Gona, S, Mu, Z et al.. Epigenetic variation impacts individual differences in the transcriptional response to influenza infection. Nat Genet. 2024;56 (3):408-419. doi: 10.1038/s41588-024-01668-z. PubMed PMID:38424460 .
  • Hakola, L, Mramba, LK, Uusitalo, U, Andrén Aronsson, C, Hummel, S, Niinistö, S et al.. Intake of B vitamins and the risk of developing islet autoimmunity and type 1 diabetes in the TEDDY study. Eur J Nutr. 2024; :. doi: 10.1007/s00394-024-03346-6. PubMed PMID:38413484 .
  • Smail, C, Ge, B, Keever-Keigher, MR, Schwendinger-Schreck, C, Cheung, W, Johnston, JJ et al.. Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. medRxiv. 2024; :. doi: 10.1101/2024.01.10.24301111. PubMed PMID:38260377 PubMed Central PMC10802745.
  • Groza, C, Schwendinger-Schreck, C, Cheung, WA, Farrow, EG, Thiffault, I, Lake, J et al.. Pangenome graphs improve the analysis of structural variants in rare genetic diseases. Nat Commun. 2024;15 (1):657. doi: 10.1038/s41467-024-44980-2. PubMed PMID:38253606 PubMed Central PMC10803329.
  • Paul, MS, Michener, SL, Pan, H, Chan, H, Pfliger, JM, Rosenfeld, JA et al.. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024;111 (1):96-118. doi: 10.1016/j.ajhg.2023.12.004. PubMed PMID:38181735 PubMed Central PMC10806447.
  • Dolzhenko, E, English, A, Dashnow, H, De Sena Brandine, G, Mokveld, T, Rowell, WJ et al.. Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024; :. doi: 10.1038/s41587-023-02057-3. PubMed PMID:38168995 .
  • Macintosh, J, Perrier, S, Pinard, M, Tran, LT, Guerrero, K, Prasad, C et al.. Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report. Front Neurol. 2023;14 :1254140. doi: 10.3389/fneur.2023.1254140. PubMed PMID:37915380 PubMed Central PMC10616956.
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