Tomi L. Toler, MS, CGC

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

phone: (314) 454-6093

Clinical Interests

Genetic Counseling, Education, Public Health


  • 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 - 2023IL, 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 (16)

Publication Co-Authors

  1. A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency. Eur J Hum Genet. 2021. PMID:34483339 
  2. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021. PMID:33658631 
  3. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2020. PMID:33299146 
  4. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. Am J Med Genet A. 2020. PMID:32083401 
  5. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med. 2020. PMID:31649276 
  6. Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet. 2019. PMID:30982611 
  7. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Hum Mutat. 2018. PMID:30157302 
  8. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med. 2017. PMID:28252636 
  9. Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. Am J Med Genet A. 2017. PMID:28332275 
  10. Detecting celiac disease in patients with Down syndrome. Am J Med Genet A. 2016. PMID:27605215 
  11. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. Am J Hum Genet. 2016. PMID:27545675 
  12. National down syndrome patient database: Insights from the development of a multi-center registry study. Am J Med Genet A. 2015. PMID:26249752 
  13. NIPT: current utilization and implications for the future of prenatal genetic counseling. Prenat Diagn. 2014. PMID:24711206 
  14. 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. PMID:24232412 
  15. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry. 2014. PMID:23587880 
  16. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A. 2013. PMID:23239472 
Last updated: 06/17/2022
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