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Jorge L Granadillo, MD, MSc.
granad.j@wustl.edu
Assistant Professor, 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
,
2015
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 (18)
Publication Co-Authors
Dustin Baldridge
Kathleen Sisco
Marwan Shinawi, M.D.
Yang Cao
Jennifer A Wambach, M.D.
Rachel Slaugh, MS, CGC
Sakil S Kulkarni, MD
Kim H. H. Liss, M.D.
David B. Wilson, M.D., Ph.D.
Dorothy Katherine Grange, M.D.
Frederick S. Huang, M.D.
Patricia Dickson
Raja Dandamudi
Tomi L. Toler, MS, CGC
Francis Sessions Cole, III, M.D.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Undiagnosed Diseases Network., Rush E, Pitt GS, Au PYB, Shashi V.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
.
2021;23
(10):
1922-1932.
PMCID:
PMC8488020
PMID:
34163037
Starosta RT, Granadillo JL, Patel KR, Finegold MJ, Stoll J, Kulkarni S.
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
Chmielewska JJ, Burkardt D, Granadillo JL, Slaugh R, Morgan S, Rotenberg J, Keren B, Mignot C, Escobar L, Turnpenny P, Zuteck M, Seaver LH, Ploski R, Dziembowska M, Wynshaw-Boris A, Adegbola A.
PTPN4
germline variants result in aberrant neurodevelopment and growth.
HGG Adv
.
2021;2
(3).
PMCID:
PMC8439436
PMID:
34527963
Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Soares CA, Tkachenko N, M Amudhavalli S, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E, Cao Y.
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.
Clin Genet
.
2021.
PMID:
34164801
Sadikovic B, Levy MA, Kerkhof J, Aref-Eshghi E, Schenkel L, Stuart A, McConkey H, Henneman P, Venema A, Schwartz CE, Stevenson RE, Skinner SA, DuPont BR, Fletcher RS, Balci TB, Siu VM, Granadillo JL, Masters J, Kadour M, Friez MJ, van Haelst MM, Mannens MMAM, Louie RJ, Lee JA, Tedder ML, Alders M.
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
.
2021;23
(6):
1065-1074.
PMCID:
PMC8187150
PMID:
33547396
Wongkittichote P, Upchurch GM, Dehner LP, Wood T, Granadillo JL.
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
Zhou HF, Amarillo IE, Snyder S, Granadillo JL, O'Conor CJ, Dillon P, Wilson D, Huang FS, Dehner LP, He M.
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
Sadikovic B, Levy MA, Kerkhof J, Aref-Eshghi E, Schenkel L, Stuart A, McConkey H, Henneman P, Venema A, Schwartz CE, Stevenson RE, Skinner SA, DuPont BR, Fletcher RS, Balci TB, Siu VM, Granadillo JL, Masters J, Kadour M, Friez MJ, van Haelst MM, Mannens MMAM, Louie RJ, Lee JA, Tedder ML, Alders M.
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
.
2021.
PMID:
33637969
Faundes V, Jennings MD, Crilly S, Legraie S, Withers SE, Cuvertino S, Davies SJ, Douglas AGL, Fry AE, Harrison V, Amiel J, Lehalle D, Newman WG, Newkirk P, Ranells J, Splitt M, Cross LA, Saunders CJ, Sullivan BR, Granadillo JL, Gordon CT, Kasher PR, Pavitt GD, Banka S.
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
Granadillo JL, Wegner DJ, Paul AJ, Willing M, Sisco K, Tedder ML, Sadikovic B, Wambach JA, Baldridge D, Cole FS, Undiagnosed Diseases Network..
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
Am J Med Genet A
.
2021;185
(2):
544-548.
PMID:
33184947
Lee EJ, Dandamudi R, Granadillo JL, Grange DK, Kakajiwala A.
Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B.
CEN Case Rep
.
2021.
PMID:
33502714
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: 03/14/2022
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