Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz

por Ortiz-Cabrera, N.V., Gallego-Merlo, J., Vélez-Monsalve, C., de Nicolas, R., Mas, S. Fontao, Ayuso, C., Trujillo-Tiebas, M.J.
Publicado 2016

Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease

por Riveiro-Alvarez, R., Valverde, D., Lorda-Sanchez, I., Trujillo-Tiebas, M. J., Cantalapiedra, D., Vallespin, E., Aguirre-Lamban, J., Ramos, C., Ayuso, C.
Publicado 2007

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants

por Aguirre-Lamban, J, Riveiro-Alvarez, R, Maia-Lopes, S, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ramos, C, Ayuso, C
Publicado 2009

Five years’ experience of the clinical exome sequencing in a Spanish single center

por Arteche-López, A., Ávila-Fernández, A., Riveiro Álvarez, R., Almoguera, B., Bustamante Aragonés, A., Martin-Merida, I., López Martínez, M. A., Giménez Pardo, A., Vélez-Monsalve, C., Gallego Merlo, J., García Vara, I., Blanco-Kelly, F., Tahsin Swafiri, S., Lorda Sánchez, I., Trujillo Tiebas, M. J., Ayuso, C.
Publicado 2022

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

por Arteche-López, A., Ávila-Fernández, A., Romero, R., Riveiro-Álvarez, R., López-Martínez, M. A., Giménez-Pardo, A., Vélez-Monsalve, C., Gallego-Merlo, J., García-Vara, I., Almoguera, Berta, Bustamante-Aragonés, A., Blanco-Kelly, F., Tahsin-Swafiri, S., Rodríguez-Pinilla, E., Minguez, P., Lorda, I., Trujillo-Tiebas, M. J., Ayuso, C.
Publicado 2021

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases

por Perea-Romero, I., Blanco-Kelly, F., Sanchez-Navarro, I., Lorda-Sanchez, I., Tahsin-Swafiri, S., Avila-Fernandez, A., Martin-Merida, I., Trujillo-Tiebas, M. J., Lopez-Rodriguez, R., Rodriguez de Alba, M., Iancu, I. F., Romero, R., Quinodoz, M., Hakonarson, H., Garcia-Sandova, Blanca, Minguez, P., Corton, M., Rivolta, C., Ayuso, C.
Publicado 2021