Tomi L. Toler, MS, CGC

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Instructor of Pediatrics
Associate Director, Program in Genetic Counseling
Clinical Genetic Counselor, Division of Genetics & Genomic Medicine
Genetics and Genomic Medicine

phone: (314) 454-6093


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

Licensure and Board Certification

  • 2010 - 2025American Board of Genetic Counseling

Honors and Awards

  • Phi Beta Kappa2007

Recent Publications view all (13)

Publication Co-Authors

  1. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. Am J Med Genet A. 2020. PMID:32083401 
  2. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med. 2020. PMID:31649276 
  3. Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet. 2019. PMID:30982611 
  4. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Hum Mutat. 2018. PMID:30157302 
  5. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med. 2017. PMID:28252636 
  6. Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. Am J Med Genet A. 2017. PMID:28332275 
  7. Detecting celiac disease in patients with Down syndrome. Am J Med Genet A. 2016. PMID:27605215 
  8. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. Am J Hum Genet. 2016. PMID:27545675 
  9. National down syndrome patient database: Insights from the development of a multi-center registry study. Am J Med Genet A. 2015. PMID:26249752 
  10. NIPT: current utilization and implications for the future of prenatal genetic counseling. Prenat Diagn. 2014. PMID:24711206 
  11. 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 
  12. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry. 2014. PMID:23587880 
  13. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A. 2013. PMID:23239472 
Last updated: 09/17/2020
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