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Luis A Umana Franco

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20112024

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  • Inherited disorders associated to biotin and its metabolism

    Umaña, L. A., Jan 1 2024, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition: Volume 2. Elsevier, Vol. 2. p. 849-858 10 p.

    Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

    Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., Abidi, F. E., Anderson, A., Ansar, M., Antonarakis, S. E., Azadi, A., Bachmann-Gagescu, R., Bartuli, A., Benech, C., Berkowitz, J. L., Betti, M. J., Brusco, A., Cannon, A., Caron, G., Chen, Y., Cochran, M. E. & Coleman, T. F. & 64 others, Crenshaw, M. M., Cuisset, L., Curry, C. J., Darvish, H., Demirdas, S., Descartes, M., Douglas, J., Dyment, D. A., Elloumi, H. Z., Ermondi, G., Faoucher, M., Farrow, E. G., Felker, S. A., Fisher, H., Hurst, A. C. E., Joset, P., Kelly, M. A., Kmoch, S., Leadem, B. R., Lyons, M. J., Macchiaiolo, M., Magner, M., Mandrile, G., Mattioli, F., McEown, M., Meadows, S. K., Medne, L., Meeks, N. J. L., Montgomery, S., Napier, M. P., Natowicz, M., Newberry, K. M., Niceta, M., Noskova, L., Nowak, C. B., Noyes, A. G., Osmond, M., Prijoles, E. J., Pugh, J., Pullano, V., Quélin, C., Rahimi-Aliabadi, S., Rauch, A., Redon, S., Reymond, A., Schwager, C. R., Sellars, E. A., Scheuerle, A. E., Shukarova-Angelovska, E., Skraban, C., Stolerman, E., Sullivan, B. R., Tartaglia, M., Thiffault, I., Uguen, K., Umaña, L. A., van Bever, Y., van der Crabben, S. N., van Slegtenhorst, M. A., Waisfisz, Q., Washington, C., Rodan, L. H., Myers, R. M. & Cooper, G. M., Feb 2 2023, In: American Journal of Human Genetics. 110, 2, p. 215-227 13 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    8 Scopus citations

  • Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

    Shimada, S., Ng, B. G., White, A. L., Nickander, K. K., Turgeon, C., Liedtke, K. L., Lam, C. T., Font-Montgomery, E., Lourenco, C. M., He, M., Peck, D. S., Umana, L. A., Uhles, C. L., Haynes, D., Wheeler, P. G., Bamshad, M. J., Nickerson, D. A., Cushing, T., Gates, R. & Gomez-Ospina, N. & 16 others, Byers, H. M., Scalco, F. B., Martinez, N. N., Sachdev, R., Smith, L., Poduri, A., Malone, S., Harris, R. V., Scheffer, I. E., Rosenzweig, S. D., Adams, D. R., Gahl, W. A., Malicdan, M. C. V., Raymond, K. M., Freeze, H. H. & Wolfe, L. A., Jul 5 2022, In: Journal of medical genetics. 59, 11, p. 1104-1115 12 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    11 Scopus citations

  • Update on glycogen storage disease: primary hepatic involvement

    Wright, T. L. F., Umaña, L. A. & Ramirez, C. M., Oct 1 2022, In: Current opinion in pediatrics. 34, 5, p. 496-502 7 p.

    Research output: Contribution to journal › Review article › peer-review

    13 Scopus citations

  • Second instance of co-occurring 22q11.2 deletion syndrome and Williams syndrome

    Uhles, C. L., Barnes, S., Uddin, N. & Umaña, L. A., Dec 2021, In: American Journal of Medical Genetics, Part A. 185, 12, p. 3821-3824 4 p.

    Research output: Contribution to journal › Article › peer-review

View all 15 Research outputs