• 7 Citations

Research output per year

If you made any changes in Pure these will be visible here soon.

Personal profile

Research interests

I am a medical genetics. My clinical and research interests are the following: - Congenital malformation syndromes - Neurodevelopmental and neurodegenerative disorders - Whole Exome Sequencing and Whole Genome Sequencing

Fingerprint Dive into the research topics where Jorge Luis Granadillo De Luque is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 9 Similar Profiles

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output

  • 7 Citations
  • 4 Article

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Singh, S., Gupta, A., Zech, M., Sigafoos, A. N., Clark, K. J., Dincer, Y., Wagner, M., Humberson, J. B., Green, S., van Gassen, K., Brandt, T., Schnur, R. E., Millan, F., Si, Y., Mall, V., Winkelmann, J., Gavrilova, R. H., Klee, E. W., Engleman, K., Safina, N. P. & 9 others, Slaugh, R., Bryant, E. M., Tan, W. H., Granadillo, J., Misra, S. N., Schaefer, G. B., Towner, S., Brilstra, E. H. & Koeleman, B. P. C., Aug 1 2020, In : Genetics in Medicine. 22, 8, p. 1413-1417 5 p.

Research output: Contribution to journalArticle

Open Access
  • Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

    Granadillo, J. L., Stegmann, A. P. A., Guo, H., Xia, K., Angle, B., Bontempo, K., Ranells, J. D., Newkirk, P., Costin, C., Viront, J., Stumpel, C. T., Sinnema, M., Panis, B., Pfundt, R., Krapels, I. P. C., Klaassens, M., Nicolai, J., Li, J., Jiang, Y., Marco, E. & 15 others, Canton, A., Latronico, A. C., Montenegro, L., Leheup, B., Bonnet, C., Amudhavalli, S. M., Lawson, C. E., McWalter, K., Telegrafi, A., Pearson, R., Kvarnung, M., Wang, X., Bi, W., Rosenfeld, J. A. & Shinawi, M., Oct 1 2020, In : Journal of Medical Genetics. 57, 10, p. 717-724 8 p.

    Research output: Contribution to journalArticle

  • Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

    Granadillo, J. L., Chung, W. K., Hecht, L., Corsten-Janssen, N., Wegner, D., Nij Bijvank, S. W. A., Toler, T. L., Pineda-Alvarez, D. E., Douglas, G., Murphy, J. J., Shimony, J. & Shinawi, M., Dec 2018, In : Human mutation. 39, 12, p. 1875-1884 10 p.

    Research output: Contribution to journalArticle

  • 5 Scopus citations

    Early onset and severe clinical course associated with the m.5540G>A mutation in MT-TW

    Granadillo, J. L., Moss, T., Lewis, R. A., Austin, E. G., Kelfer, H., Wang, J., Wong, L. J. C. & Scaglia, F., 2014, In : Molecular Genetics and Metabolism Reports. 1, 1, p. 61-65 5 p.

    Research output: Contribution to journalArticle

    Open Access
  • 2 Scopus citations