Jorge LuisGranadillo De LuqueMD

Medical Genetics

Pediatrics/Medical Genetics

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Office
1 Childrens Pl
# Div
Saint Louis, MO 63110
Phone+1 314-454-6093

Fax+1 844-965-9624

Washington University/B-JH/SLCH ConsortiumResidency, Pediatrics, 2015 - 2018
Washington University/B-JH/SLCH ConsortiumResidency, Pediatrics/Medical Genetics and Genomics, 2014 - 2018
Washington University/B-JH/SLCH ConsortiumResidency, Pediatrics, 2014 - 2016
Universidad Nacional de ColombiaM.Sc., Human Genetics, Meritorious Thesis, 2011 - 2015
Universidad Nacional de ColombiaM.Sc., Human Genetics, 2015
Industrial University of Santander Faculty of MedicineClass of 2007

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”. Universidad Nacional de Colombia, 2015
Outstanding Posgraduate Student scholarship Universidad Nacional de Colombia, 2011-2012
“Distinguished Student” Award Universidad Industrial de Santander, 2003, 2005-2007
“Andres Bello Distinction” in Biology Ministry of Education. Colombia., 2001
Meritorious Thesis Universidad Nacional de Colombia, 2015
Distinguished Student Award Recipient on 4 occasions Universidad Industrial de Santander, 2003
Andres Bello Distinction in Biology Ministry of Education, Colombia, 2001
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PubMed

93 citations
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Bekim Sadikovic, Michael A. Levy, Jennifer Kerkhof, Erfan Aref-Eshghi, Laila C. Schenkel
Genetics in Medicine. 2021-02-05
16 citations
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes inclu...
Jorge L. Granadillo, Alexander P.A. Stegmann, Hui Guo, Kun Xia, Brad Angle
Journal of Medical Genetics. 2020-10-01
7 citations
Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B
Edward Jin Lee, Raja Dandamudi, Jorge L. Granadillo, Dorothy K. Grange, Aadil Kakajiwala
CEN Case Reports. 2021-01-27

Journal Articles

Case Study of Two Families with MIDD and MELAS: Heteroplasmy Level of the m3243A>G Mutation and the First Report of the m3271T>C Mutation in Colombia
Granadillo JL, Luna M, Hernandez-Reina LF, Arteaga-Diaz CE, Arteaga-Diaz, JM, Revista Case Reports, 1/1/2016
Genetics of Frontotemporal Dementia (published in Spanish)
Granadillo JL, Zarante I, Rev Colomb Psiquiat, 1/1/2008

Abstracts/Posters

Case Report: A New Mutation in the CLN6 Gene in a Colombian Patient with Neuronal Ceroid Lipofuscinosis, Late Infantile Variant.
Granadillo J, Eighth Course of the Latin American School of Human and Medical Genetics (ELAG), Caxias do Sul, RS, Brazil, 1/6/2012

Other

Thesis: “Relationship between the m.3243A>G mutation heteroplasmy level in different tissues and the phenotype in families with maternally inherited diabetes mellit...
Granadillo J
Universidad Nacional de Colombia, Bogota D.C., Colombia - 1/1/2015