Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease

por Riveiro-Alvarez, R, Aguirre-Lamban, J, Lopez-Martinez, M Angel, Trujillo-Tiebas, M Jose, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Ramos, C, Ayuso, C
Publicado 2009

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

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa

por Corton, M., Avila-Fernández, A., Campello, L., Sánchez, M., Benavides, B., López-Molina, M. I., Fernández-Sánchez, L., Sánchez-Alcudia, R., da Silva, L. R. J., Reyes, N., Martín-Garrido, E., Zurita, O., Fernández-San José, P., Pérez-Carro, R., García-García, F., Dopazo, J., García-Sandoval, B., Cuenca, N., Ayuso, C.
Publicado 2016