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
- Lansdon, LA, Yoo, B, Keskus, A, Pushel, I, Bi, C, Ahmad, T et al.. Successful classification of clinical pediatric leukemia genetic subtypes via structural variant detection using HiFi long-read sequencing. medRxiv. 2024; :. doi: 10.1101/2024.11.05.24316078. PubMed PMID:39802758 PubMed Central PMC11722507.
- Jeong, H, Dishuck, PC, Yoo, D, Harvey, WT, Munson, KM, Lewis, AP et al.. Structural polymorphism and diversity of human segmental duplications. Nat Genet. 2025; :. doi: 10.1038/s41588-024-02051-8. PubMed PMID:39779957 .
- Holt, JM, Harting, J, Chen, X, Baker, D, Saunders, CT, Kronenberg, Z et al.. StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data. bioRxiv. 2024; :. doi: 10.1101/2024.12.10.627527. PubMed PMID:39713404 PubMed Central PMC11661245.
- Eurén, A, Lynch, K, Lindfors, K, Parikh, H, Koletzko, S, Liu, E et al.. Risk of celiac disease autoimmunity is modified by interactions between CD247 and environmental exposures. Sci Rep. 2024;14 (1):25463. doi: 10.1038/s41598-024-75496-w. PubMed PMID:39462122 PubMed Central PMC11567144.
- Smail, C, Ge, B, Keever-Keigher, MR, Schwendinger-Schreck, C, Cheung, WA, Johnston, JJ et al.. Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. Nat Commun. 2024;15 (1):8196. doi: 10.1038/s41467-024-52407-1. PubMed PMID:39294130 PubMed Central PMC11411080.
- Schmitt, AD, Sikkink, K, Ahmed, AA, Melnyk, S, Reid, D, Van Meter, L et al.. Evaluation of Hi-C Sequencing for Detection of Gene Fusions in Hematologic and Solid Tumor Pediatric Cancer Samples. Cancers (Basel). 2024;16 (17):. doi: 10.3390/cancers16172936. PubMed PMID:39272793 PubMed Central PMC11394547.
- Park, J, Cook, DE, Chang, PC, Kolesnikov, A, Brambrink, L, Mier, JC et al.. DeepSomatic: Accurate somatic small variant discovery for multiple sequencing technologies. bioRxiv. 2024; :. doi: 10.1101/2024.08.16.608331. PubMed PMID:39229187 PubMed Central PMC11370364.
- Keever-Keigher, MR, Harvey, L, Williams, V, Vyhlidal, CA, Ahmed, AA, Johnston, JJ et al.. Genomic insights into pediatric intestinal inflammatory and eosinophilic disorders using single-cell RNA-sequencing. Front Immunol. 2024;15 :1420208. doi: 10.3389/fimmu.2024.1420208. PubMed PMID:39192974 PubMed Central PMC11347318.
- 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. Genome Res. 2024;34 (11):1798-1810. doi: 10.1101/gr.279299.124. PubMed PMID:39107043 PubMed Central PMC11610581.
- Alstrup, M, Cesca, F, Krawczun-Rygmaczewska, A, López-Menéndez, C, Pose-Utrilla, J, Castberg, FC et al.. Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases. Genet Med. 2024;26 (11):101219. doi: 10.1016/j.gim.2024.101219. PubMed PMID:39033379 .