Jorge L Granadillo, MD, MSc.

Profile picture
Assistant Professor, 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, Colombia2015


  • 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 (18)

  1. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021;23(10):1922-1932. PMCID:PMC8488020  PMID:34163037 
  2. Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11. Pediatr Dev Pathol. 2021;10935266211036084. PMID:34428094 
  3. PTPN4 germline variants result in aberrant neurodevelopment and growth. HGG Adv. 2021;2(3). PMCID:PMC8439436  PMID:34527963 
  4. Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly. Clin Genet. 2021. PMID:34164801 
  5. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders. Genet Med. 2021;23(6):1065-1074. PMCID:PMC8187150  PMID:33547396 
  6. Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant. Mol Genet Metab Rep. 2021;27:100747. PMCID:PMC8025142  PMID:33854947 
  7. Confirmation of Xp22.11 Duplication as a Germline Susceptibility Alteration in a Wilms Tumor Arising in Horseshoe Kidney. Fetal Pediatr Pathol. 2021;1-6. PMID:33960268 
  8. Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders. Genet Med. 2021. PMID:33637969 
  9. Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine. Nat Commun. 2021;12(1):833. PMCID:PMC7864902  PMID:33547280 
  10. Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses. Am J Med Genet A. 2021;185(2):544-548. PMID:33184947 
  11. Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B. CEN Case Rep. 2021. PMID:33502714 
  12. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy. Genet Med. 2020;22(8):1413-1417. PMCID:PMC7394879  PMID:32366965 
  13. 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 
  14. 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 
  15. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Hum Mutat. 2018. PMID:30157302 
  16. 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. 
  17. 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 
  18. Genetics of Frontotemporal Dementia Rev Colomb Psiquiat . 2008;(37):95-113 (published in Spanish). 
Last updated: 10/13/2022
© 2022 by Washington University in St. Louis
One Brookings Drive, St. Louis, MO 63130