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

Licensure and Board Certification

  • 2017 - PresMO, Medical Physician & Surgeon
  • 2018 - PresPediatrics
  • 2019 - PresClinical 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 (6)

Publication Co-Authors

  1. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Hum Mutat. 2018. PMID:30157302 
  2. 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. 
  3. 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 
  4. Meckel-Gruber Syndrome in a Female Patient without Encephalocele: 12th Colombian Congress and 6th International Congress of Human Genetics. Santa Marta, Colombia (poster presentation) 2012. 
  5. A New Mutation in the CLN6 Gene in a Colombian Patient with Neuronal Ceroid Lipofuscinosis, Late Infantile Variant. Eighth Course of the Latin American School of Human and Medical Genetics (ELAG). Caxias do Sul, RS, Brazil (poster presentation). 2012. 
  6. Genetics of Frontotemporal Dementia Rev Colomb Psiquiat . 2008;(37):95-113 (published in Spanish). 
Last updated: 02/29/2020
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