Jennifer Heeley

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phone: (314) 454-6093


  • BA, Summa Cum Laude, Washington University in St. Louis2003
  • MD, Washington University in St. Louis School of Medicine2009


  • Pediatrics Residency, Washington University in St. Louis School of Medicine2009 - 2012
  • Medical Genetics and Genomics Residency, Washington University in St. Louis School of Medicine2012 - 2015
  • Foundation in Teaching Skills Program, Washington University in St. Louis School of Medicine2021 - 2022
  • Educational Skills Program, Washington University in St. Louis School of Medicine2022 - 2022

Licensure and Board Certification

  • 2012 - PresMO, Medical license
  • 2012 - PresAmerican Board of Pediatrics
  • 2015 - PresAmerican Board of Medical Genetics and Genomics
  • 2016 - PresAR, Medical license
  • 2016 - PresOK, Medical license
  • 2021 - PresIL, Medical license

Recent Publications view all (12)

Publication Co-Authors

  1. De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy Am J Hum Genet. 2020;107(3):564-574. PMID:32822602 
  2. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 Genet Med. 2020;22(7):1215-1226. PMID:32376980 
  3. Mobile element insertion detection in 89,874 clinical exomes Genet Med. 2020;22(5):974-978. PMID:31965078 
  4. Clinical and genetic characterization of individuals with predicted deleterious PHIP variants Cold Spring Harb Mol Case Stud. 2019;5(4):a004200. PMID:31167805 
  5. Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience J Pediatr Urol. 2018;14(2):153.e1-153.e7. PMID:29157626 
  6. Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability J Med Genet. 2018;55(8):561-566. PMID:28866611 
  7. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome Am J Hum Genet. 2018;102(1):27-43. PMID:29276006 
  8. The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies Am J Med Genet A. 2017;173(11):3022-3028. PMID:28941052 
  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. PMID:28252636 
  10. Integrated small copy number variations and epigenome maps of disorders of sex development Hum Genome Var. 2016;3:16012. PMID:27340555 
  11. Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations Am J Med Genet A. 2015;167(4):816-820. PMID:25707956 
  12. TRAIL and KILLER are expressed and induce apoptosis in the murine preimplantation embryo. Biol Reprod. 2004;71(3):871-877. PMID:15128592 
Last updated: 09/30/2022
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