Luis A Umana Franco

  • 49 Citations
  • 4 h-Index

Research output per year

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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