Catherine Gooch

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Assistant Professor of Pediatrics, Genetics and Genomic Medicine
Genetics and Genomic Medicine

phone: (314) 454-6093

Clinical Interests

Skeletal dysplasias, achondroplasia, connective tissue disease


  • BS, Magna Cum Laude Dominic Dean Award Honors Diploma, Christian Brothers University2012
  • MD, University of Tennessee Health Science Center2016


  • Resident, Chief Resident , University of Alabama at Birmingham2016 - 2020

Licensure and Board Certification

  • AL
  • MO, Medical License
  • IL, Medical License
  • 2020American Board of Pediatrics

Recent Publications view all (12)

  1. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. Hum Mutat. 2022;43(10):1377-1395. PMID:35730652 
  2. Near complete deletion of KMT2D in a college student American Journal of Medical Genetics Part A. 2022. PMID:35040536 
  3. Mid-Term Outcomes of Heart Transplantation in Children with Genetic Disorders. Ann Thorac Surg. 2022. PMID:35007503 
  4. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms Molecular Genetics and Genomic Medicine. 2021. PMID:34519438 
  5. Neonatal hydrocephalus: an atypical presentation of malignant infantile osteopetrosis Childs Nervous System. 2021. PMID:34519872 
  6. Genetic testing hearing loss: The challenge of non syndromic mimics. Int J Pediatr Otorhinolaryngol. 2021;150:110872. PMID:34433113 
  7. Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results. Clin Genet. 2021;99(5):638-649. PMID:33818754 
  8. Inherited cause of in utero digital malformations. BMJ Case Rep. 2020;13(3). PMID:32209574 
  9. Repeatedly in Rhabdomyolysis. Pediatr Emerg Care. 2020. PMID:32205805 
  10. Editorial: Neonatal management of achondroplasia: one hospital's geosocial approach to improve patient outcomes. Curr Opin Pediatr. 2019;31(6):691-693. PMID:31693574 
  11. The effects of repeated zolpidem treatment on tolerance, withdrawal-like symptoms, and GABAA receptor mRNAs profile expression in mice: comparison with diazepam. Psychopharmacology (Berl). 2014;231(15):2967-79. PMID:24531568 
  12. Near complete deletion of KMT2D in a college student American Journal of Medical Genetics Part A. PMID:35040536 
Last updated: 09/06/2022
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