Department of Pediatrics

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

• 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. 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.

Washington University has a long tradition of collaboration amongst colleagues.The faculty above have co-authored publications with Jorge L Granadillo, MD, MSc.

1. 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 
2. 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 
3. 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 
4. 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 
5. 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 
6. 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 
7. 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 
8. 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 
9. 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 
10. 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 
11. 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 
12. 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 
13. 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 
14. 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 
15. 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 
16. 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. 
17. 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 
18. Granadillo JL, Zarante I. Genetics of Frontotemporal Dementia Rev Colomb Psiquiat . 2008;(37):95-113 (published in Spanish).