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

94 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
36 citations
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
Víctor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers
Nature Communications. 2021-02-05
9 citations
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
Jorge L. Granadillo, Daniel J. Wegner, Alexander J. Paul, Marcia C. Willing, Kathleen Sisco
American Journal of Medical Genetics. Part A. 2021-02-01

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