Tomi L. Toler, MS, CGC

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Assistant Professor of Pediatrics, Genetics and Genomic Medicine
Associate Director, Program in Genetic Counseling
Genetics and Genomic Medicine

phone: (314) 454-6093

Clinical Interests

Genetic Counseling, Education, Public Health, Neurogenetics


  • BA, Magna Cum Laude, University of Missouri2007
  • MS, University of North Carolina at Greensboro2009

Licensure and Board Certification

  • 2009 - 2010MA, Provisional Genetic Counselor
  • 2010 - 2025American Board of Genetic Counseling
  • 2010 - 2017MA, Genetic Counselor
  • 2020 - 2025IL, Genetic Counselor

Honors and Awards

  • Phi Beta Kappa2007
  • Master Interprofessional Educator (Center for Interprofessional Practice and Education at Washington University Medical Campus)2022

Recent Publications view all (17)

Publication Co-Authors

  1. Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the National Society of Genetic Counselors (NSGC). J Genet Couns. 2022. 
  2. A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency. Eur J Hum Genet. 2021;29(11):1719-1724. PMCID:PMC8560863  PMID:34483339 
  3. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021;23(6):1028-1040. PMID:33658631 
  4. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021;23(4):653-660. PMID:33299146 
  5. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. Am J Med Genet A. 2020;182(5):1053-1065. PMCID:PMC7295006  PMID:32083401 
  6. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med. 2020;22(3):547-556. PMCID:PMC7056642  PMID:31649276 
  7. Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet. 2019;104(5):914-924. PMCID:PMC6507040  PMID:30982611 
  8. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Hum Mutat. 2018;39(12):1875-1884. PMID:30157302 
  9. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med. 2017;19(9):1040-1048. PMCID:PMC5581723  PMID:28252636 
  10. Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. Am J Med Genet A. 2017;173(6):1539-1545. PMID:28332275 
  11. Detecting celiac disease in patients with Down syndrome. Am J Med Genet A. 2016;170(12):3098-3105. PMID:27605215 
  12. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. Am J Hum Genet. 2016;99(3):728-734. PMCID:PMC5011042  PMID:27545675 
  13. National down syndrome patient database: Insights from the development of a multi-center registry study. Am J Med Genet A. 2015;167A(11):2520-6. PMID:26249752 
  14. NIPT: current utilization and implications for the future of prenatal genetic counseling. Prenat Diagn. 2014;34(9):850-7. PMID:24711206 
  15. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. Genet Med. 2014;16(6):448-59. PMID:24232412 
  16. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry. 2014;19(3):368-79. PMCID:PMC4756476  PMID:23587880 
  17. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A. 2013;161A(1):185-91. PMCID:PMC3535513  PMID:23239472 
Last updated: 11/08/2022
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