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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

  • Chen, X, Harting, J, Farrow, E, Thiffault, I, Kasperaviciute, D, Genomics England Research Consortium et al.. Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing. Am J Hum Genet. 2023; :. doi: 10.1016/j.ajhg.2023.01.001. PubMed PMID:36669496 .
  • Kolvenbach, CM, Felger, T, Schierbaum, L, Thiffault, I, Pastinen, T, Szczepańska, M et al.. X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems. J Med Genet. 2022; :. doi: 10.1136/jmg-2022-108738. PubMed PMID:36379543 .
  • Ningappa, M, Shao, X, Ashokkumar, C, Xu, Q, Zeevi, A, Grundberg, E et al.. The Role of Dynamic DNA Methylation in Liver Transplant Rejection in Children. Transplant Direct. 2022;8 (11):e1394. doi: 10.1097/TXD.0000000000001394. PubMed PMID:36259078 PubMed Central PMC9575761.
  • Vehik, K, Boulware, D, Killian, M, Rewers, M, McIndoe, R, Toppari, J et al.. Rising Hemoglobin A1c in the Nondiabetic Range Predicts Progression of Type 1 Diabetes As Well As Oral Glucose Tolerance Tests. Diabetes Care. 2022;45 (10):2342-2349. doi: 10.2337/dc22-0828. PubMed PMID:36150054 PubMed Central PMC9587339.
  • Krischer, JP, Liu, X, Lernmark, Å, Hagopian, WA, Rewers, MJ, She, JX et al.. Predictors of the Initiation of Islet Autoimmunity and Progression to Multiple Autoantibodies and Clinical Diabetes: The TEDDY Study. Diabetes Care. 2022;45 (10):2271-2281. doi: 10.2337/dc21-2612. PubMed PMID:36150053 PubMed Central PMC9643148.
  • Fraley, ER, Khanal, S, Pierce, SH, LeMaster, CA, McLennan, R, Pastinen, T et al.. Effects of Prior Infection with SARS-CoV-2 on B Cell Receptor Repertoire Response during Vaccination. Vaccines (Basel). 2022;10 (9):. doi: 10.3390/vaccines10091477. PubMed PMID:36146555 PubMed Central PMC9506540.
  • Bonkowsky, JL, Pastinen, T, White, P. The post-diagnostics world: charting a path for pediatric genomic medicine in the twenty-first century. Pediatr Res. 2022; :1-3. doi: 10.1038/s41390-022-02144-2. PubMed PMID:35690684 PubMed Central PMC9187847.
  • 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 PubMed Central PMC9118695.
  • 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.
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