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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

  • Rael, VE, Yano, JA, Huizar, JP, Slayden, LC, Weiss, MA, Turcotte, EA et al.. Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. J Exp Med. 2024;221 (8):. doi: 10.1084/jem.20232005. PubMed PMID:38780621 PubMed Central PMC11116816.
  • Schmitt, AD, Sikkink, K, Ahmed, AA, Melnyk, S, Reid, D, Van Meter, L et al.. Evaluation of Hi-C sequencing for the detection of gene fusions in hematologic and solid pediatric cancer samples. medRxiv. 2024; :. doi: 10.1101/2024.05.10.24306838. PubMed PMID:38765974 PubMed Central PMC11100933.
  • 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.2024.04.022. PubMed PMID:38723631 .
  • Guitart, X, Porubsky, D, Yoo, D, Dougherty, ML, Dishuck, PC, Munson, KM et al.. Independent expansion, selection and hypervariability of the TBC1D3 gene family in humans. bioRxiv. 2024; :. doi: 10.1101/2024.03.12.584650. PubMed PMID:38654825 PubMed Central PMC11037872.
  • Cohen, ASA, Berrios, CD, Zion, TN, Barrett, CM, Moore, R, Boillat, E et al.. Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations. Am J Hum Genet. 2024;111 (5):825-832. doi: 10.1016/j.ajhg.2024.03.016. PubMed PMID:38636509 PubMed Central PMC11080604.
  • Keskus, A, Bryant, A, Ahmad, T, Yoo, B, Aganezov, S, Goretsky, A et al.. Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads. medRxiv. 2024; :. doi: 10.1101/2024.03.22.24304756. PubMed PMID:38585974 PubMed Central PMC10996739.
  • LeMaster, C, Schwendinger-Schreck, C, Ge, B, Cheung, W, McLennan, R, Johnston, J et al.. Mapping structural variants to rare disease genes using long-read whole genome sequencing and trait-relevant polygenic scores. medRxiv. 2024; :. doi: 10.1101/2024.03.15.24304216. PubMed PMID:38562793 PubMed Central PMC10984062.
  • 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;143 (3):455-469. doi: 10.1007/s00439-024-02655-4. PubMed PMID:38526744 PubMed Central PMC11043173.
  • 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 (4):805. doi: 10.1016/j.ajhg.2024.03.009. PubMed PMID:38508193 PubMed Central PMC11023915.
  • 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.
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