Jorge LuisGranadillo De LuqueMD

PubMed

• 1 citations
  MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease in a Child Who Previously Underwent Liver Transplantation for PFIC-l...
  Chaowapong Jarasvaraparn, Mai He, Jorge L. Granadillo, Sakil Kulkarni, Janis Stoll, Kim H.H. Liss> ;Journal of Pediatric Gastroenterology and Nutrition. 2021 Jan 1
• 2 citations
  Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW.
  Jorge L. Granadillo, Timothy J. Moss, Richard A. Lewis, Elise G. Austin, Howard Kelfer, Jing Wang, Lee-Jun C. Wong, Fernando Scaglia> ;Molecular Genetics and Metabolism Reports. 2014 Jan 1
• 73 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, Alan Stuart, Haley McConkey, Peter Henneman, Andrea Venema, Charles E. Schwar...> ;Genetics in Medicine. 2021 Feb 5
• 29 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, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Har...> ;Nature Communications. 2021 Feb 5
• 6 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 Jan 27
• 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, Matthew L. Tedder, Bekim Sadikovic, Jennifer A. Wambach, Dustin Baldridge,...> ;American Journal of Medical Genetics. Part A. 2021 Feb 1
• 14 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, Kelly Bontempo, Judith D. Ranells, Patricia Newkirk, Carrie Costin, Joleen Viront, C. T. R....> ;Journal of Medical Genetics. 2020 Oct 1
• 20 citations
  Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
  Jorge L. Granadillo, Wendy K. Chung, Leah Hecht, Nicole Corsten-Janssen, Daniel J. Wegner, Sebastiaan W.A. Nij Bijvank, Tomi L. Toler, Daniel E. Pineda-Alvarez, Ganka ...> ;Human Mutation. 2018 Dec 1
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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