Featured Publications
Alcántara-Ortigoza, M. A., Vela-Amieva, M., González-del Angel, A., Reyna-Fabián, M. E., Fernández-Hernández, L., Estandía-Ortega, B., Guillén-López, S., López-Mejía, L., Ibarra-González, I., & Ruiz-Reyes, M. de la L. (2025). Biparental and androgenetic somatic mosaicism with presentation of non-syndromic severe neonatal hyperinsulinemia. International Journal of Molecular Sciences, 26(16), 7985.
Fernández-Lainez, C., Vela-Amieva, M., Reyna-Fabián, M., Fernández-Hernández, L., Guillén-López, S., López-Mejía, L., Alcántara-Ortigoza, M. Á., González-del Angel, A., Carrillo-Nieto, R. I., & Ortega-Valdez, E. (2024). Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect. Molecular Genetics and Metabolism Reports, 41, 101155.
Vela-Amieva, M., Alcántara-Ortigoza, M. A., González-del Angel, A., Fernández-Hernández, L., Reyna-Fabián, M. E., Estandía-Ortega, B., Guillén-López, S., López-Mejía, L., Belmont-Martínez, L., & Carrillo-Nieto, R. I. (2024). Concordance between biochemical and molecular diagnosis obtained by WES in Mexican patients with inborn errors of intermediary metabolism: Utility for therapeutic management. International Journal of Molecular Sciences, 25(21), 11722.
Alcántara-Ortigoza, M. A., Rodríguez-Lozano, A. L., Estandía-Ortega, B., González-del Angel, A., Díaz-García, L., Rivas-Larrauri, F. E., & Nájera-Velázquez, R. G. (2024). Does the esv3587290 copy number variation in the VANGL1 gene differ as a genetic factor for developing nephritis in Mexican childhood-onset systemic lupus erythematosus patients? Children, 11(6), 712.
Vela-Amieva, M., Alcántara-Ortigoza, M. A., González-del Angel, A., Ibarra-González, I., Fernández-Hernández, L., Guillén-López, S., López-Mejía, L., & Fernández-Lainez, C. (2023). In silico structural protein evaluation of the phenylalanine hydroxylase p.(Tyr77His) variant associated with benign hyperphenylalaninemia as identified through Mexican newborn screening. Children, 10(12), 1865.
González-del Angel, A., Ruiz-Herrera, A., Hernández-Martínez, N. L., Todd-Quiñones, C. G., Durán-McKinster, C., Herrera-Mora, P., & Alcántara-Ortigoza, M. A. (2023). Uncommon large and bilateral fibrous cephalic plaques in a patient with TSC2-related tuberous sclerosis complex. Children, 10(10), 1614.
González-del Angel, A., Alcántara-Ortigoza, M. A., Ramos, S., Algara-Ramírez, C., Hernández-Hernández, M. A., & Saenger-Rivas, L. (2023). Unusual trisomy X phenotype associated with a concurrent heterozygous 16p11.2 deletion: Importance of an integral approach for proper diagnosis. International Journal of Molecular Sciences, 24(19), 14643.
Ashton, C. J., Perveen, R., Beaman, G., Crisponi, G., González-del Angel, A., Garza-Mayén, G., Alcántara-Ortigoza, M. A., O’Sullivan, J., & Clayton-Smith, J. (2022). 3MC syndrome: Molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum. Clinical Dysmorphology, 31(4), 157–165.