Luis A Umana Franco

  • 49 Citations
  • 4 h-Index
20112020

Research output per year

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

Fingerprint Dive into the research topics where Luis A Umana Franco is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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

Research Output

  • 49 Citations
  • 4 h-Index
  • 7 Article
  • 1 Review article

Clinical exome studies have inconsistent coverage

Gotway, G., Crossley, E., Kozlitina, J., Xing, C., Fan, J., Hornbuckle, C., Thies, J., Michel, D., Quinn, C., Scheuerle, A. E., Umana, L. A., Uhles, C. L. & Park, J. Y., Jan 1 2020, In : Clinical chemistry. 66, 1, p. 199-206 8 p.

Research output: Contribution to journalArticle

  • 1 Scopus citations

    Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events

    Hanchard, N. A., Umana, L. A., D'Alessandro, L., Azamian, M., Poopola, M., Morris, S. A., Fernbach, S., Lalani, S. R., Towbin, J. A., Zender, G. A., Fitzgerald-Butt, S., Garg, V., Bowman, J., Zapata, G., Hernandez, P., Arrington, C. B., Furthner, D., Prakash, S. K., Bowles, N. E., McBride, K. L. & 1 others, Belmont, J. W., Aug 1 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2176-2188 13 p.

    Research output: Contribution to journalArticle

  • 7 Scopus citations

    Genética clínica comunitaria: Exploración de patología genética en Boyacá, Colombia

    Translated title of the contribution: Clinical community genetics: Exploring genetic disorders in Boyacá, ColombiaVelasco, H. M., Martin, Á. M., Galvis, J., Buelvas, L., Sánchez, Y., Umaña, L. A. & Acosta, J., Jan 1 2017, In : Revista de Salud Publica. 19, 1, p. 61-70 10 p.

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia: A Neurogenetic Description

    Velasco, H. M., Sanchez, Y., Martin, A. M. & Umaña, L. A., 2017, In : Journal of Child Neurology. 32, 2, p. 177-183 7 p.

    Research output: Contribution to journalReview article

  • 6 Scopus citations