Jorge L Granadillo

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Instructor in Pediatrics, Genetics and Genomic Medicine
Genetics and Genomic Medicine

phone: (314) 454-6093


  • MD, Universidad Industrial de Santander, Bucaramanga, Colombia2007
  • MSc, Universidad Nacional de Colombia, Bogota, Colombia2014


  • Intern, St. Louis Children’s Hospital/Washington University in St. Louis2014 - 2015
  • Resident, St. Louis Children’s Hospital/Washington University in St. Louis2014 - 2018
  • Education Skills Program, Washington University School of Medicine2018 - 2019

Licensure and Board Certification

  • 2013Educational Commission for Foreign Medical Graduates (ECFMG)
  • 2017 - PresMO, Medical Physician & Surgeon
  • 2018 - PresPediatrics - American Board of Pediatrics
  • 2019 - PresClinical Genetics and Genomics - American Board of Medical Genetics and Genomics

Honors and Awards

  • “Andres Bello Distinction” in Biology. Ministry of Education. Colombia2001 - 2001
  • “Distinguished Student” award recipient on 4 occasions. Universidad Industrial de Santander, Bucaramanga, Colombia2003 - 2007
  • Outstanding Postgraduate Student scholarship. Universidad Nacional de Colombia, Bogota D.C., Colombia2011 - 2012
  • Meritorious Thesis: “Relationship between the m.3243A>G mutation heteroplasmy level in different tissues and the phenotype in families with maternally inherited diabetes mellitus and deafness (MIDD) and MELAS”2015 - 2015

Recent Publications view all (7)

Publication Co-Authors

  1. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy. Genet Med. 2020;22(8):1413-1417. PMCID:PMC7394879  PMID:32366965 
  2. MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease In A Child Who Previously Underwent Liver Transplantation For PFIC-like Cholestasis. J Pediatr Gastroenterol Nutr. 2020. PMID:32459745 
  3. Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD. J Med Genet. 2020. PMID:32152250 
  4. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Hum Mutat. 2018. PMID:30157302 
  5. Case Study of Two Families with MIDD and MELAS: Heteroplasmy Level of the m.3243A>G Mutation and the First Report of the m.3271T>C Mutation in Colombia Revista Case Reports. 2016;(2):27-36. 
  6. Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW. Mol Genet Metab Rep. 2014;1:61-65. PMCID:PMC4185924  PMID:25302159 
  7. Genetics of Frontotemporal Dementia Rev Colomb Psiquiat . 2008;(37):95-113 (published in Spanish). 
Last updated: 08/24/2020
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