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Jorge L Granadillo
granad.j@wustl.edu
Instructor in Pediatrics, Genetics and Genomic Medicine
Genetics and Genomic Medicine
phone: (314) 454-6093
Education
MD,
Universidad Industrial de Santander, Bucaramanga, Colombia
,
2007
MSc,
Universidad Nacional de Colombia, Bogota, Colombia
,
2014
Training
Intern, St. Louis Children’s Hospital/Washington University in St. Louis
,
2014
-
2015
Resident, St. Louis Children’s Hospital/Washington University in St. Louis
,
2014
-
2018
Education Skills Program, Washington University School of Medicine
,
2018
-
2019
Licensure and Board Certification
2013
Educational Commission for Foreign Medical Graduates (ECFMG)
2017
-
Pres
MO, Medical Physician & Surgeon
2018
-
Pres
Pediatrics - American Board of Pediatrics
2019
-
Pres
Clinical Genetics and Genomics - American Board of Medical Genetics and Genomics
Honors and Awards
“Andres Bello Distinction” in Biology. Ministry of Education. Colombia
,
2001
- 2001
“Distinguished Student” award recipient on 4 occasions. Universidad Industrial de Santander, Bucaramanga, Colombia
,
2003
- 2007
Outstanding Postgraduate Student scholarship. Universidad Nacional de Colombia, Bogota D.C., Colombia
,
2011
- 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
Marwan Shinawi, M.D.
Rachel Slaugh, MS, CGC
Sakil S Kulkarni, MD
Kim H. H. Liss, M.D.
Tomi L. Toler, MS, CGC
Singh S, Gupta A, Zech M, Sigafoos AN, Clark KJ, Dincer Y, Wagner M, Humberson JB, Green S, van Gassen K, Brandt T, Schnur RE, Millan F, Si Y, Mall V, Winkelmann J, Gavrilova RH, Klee EW, Engleman K, Safina NP, Slaugh R, Bryant EM, Tan WH, Granadillo J, Misra SN, Schaefer GB, Towner S, Brilstra EH, Koeleman BPC.
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Genet Med
.
2020;22
(8):
1413-1417.
PMCID:
PMC7394879
PMID:
32366965
Jarasvaraparn C, He M, Granadillo JL, Kulkarni S, Stoll J, Liss K.
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
Granadillo JL, Stegmann AP, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M.
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
Granadillo JL, Chung WK, Hecht L, Corsten-Janssen N, Wegner D, Nij Bijvank SWA, Toler TL, Pineda-Alvarez DE, Douglas G, Murphy JJ, Shimony J, Shinawi M.
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
Hum Mutat
.
2018.
PMID:
30157302
Granadillo JL, Luna M, Hernandez-Reina LF, Arteaga-Diaz CE, Arteaga-Diaz, JM.
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.
Granadillo JL, Moss T, Lewis RA, Austin EG, Kelfer H, Wang J, Wong LJ, Scaglia F.
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
Granadillo JL, Zarante I.
Genetics of Frontotemporal Dementia
Rev Colomb Psiquiat
.
2008;(37):95-113 (published in Spanish).
Last updated: 08/24/2020
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