Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa
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.
Published in Scientific reports (13.10.2016)
Published in Scientific reports (13.10.2016)
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Journal Article
Functional characterization of a novel β‐fructofuranosidase from Bifidobacterium longum subsp. infantis ATCC 15697 on structurally diverse fructans
Ávila‐Fernández, Á., Cuevas‐Juárez, E., Rodríguez‐Alegría, M.E., Olvera, C., López‐Munguía, A.
Published in Journal of applied microbiology (01.07.2016)
Published in Journal of applied microbiology (01.07.2016)
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Journal Article
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes
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.
Published in Scientific reports (11.03.2021)
Published in Scientific reports (11.03.2021)
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Journal Article
Five years’ experience of the clinical exome sequencing in a Spanish single center
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.
Published in Scientific reports (10.11.2022)
Published in Scientific reports (10.11.2022)
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Journal Article
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases
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.
Published in Human genetics (01.12.2021)
Published in Human genetics (01.12.2021)
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Journal Article
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
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
Published in British journal of ophthalmology (01.10.2009)
Published in British journal of ophthalmology (01.10.2009)
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Journal Article
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants
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
Published in British journal of ophthalmology (01.05.2009)
Published in British journal of ophthalmology (01.05.2009)
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Journal Article
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis
Vallespin, E, Avila-Fernandez, A, Almoguera, B, Velez-Monsalve, C, Cantalapiedra, D, Garcia-Hoyos, M, Riveiro-Alvarez, R, Aguirre-Lamban, J, Bustamante-Aragones, A, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.04.2010)
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Published in Human genetics (01.04.2010)
Journal Article
Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis
Vallespin, Elena, Avila-Fernandez, A, Velez-Monsalve, C, Almoguera, B, Martinez-Garcia, M, Gomez-Dominguez, B, Gonzalez-Roubaud, C, Cantalapiedra, D, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.01.2010)
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Published in Human genetics (01.01.2010)
Journal Article
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA)
Vallespin, Elena, Avila-Fernandez, A, Almoguera, B, Cantalapiedra, D, Garcia-Hoyos, M, Riveiro-Alvarez, R, Aguirre-Lamban, J, Bustamante-Aragones, A, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.01.2010)
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Published in Human genetics (01.01.2010)
Journal Article
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Garcia-Hoyos, M, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.01.2010)
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Published in Human genetics (01.01.2010)
Journal Article
Gene symbol: NDP. Disease: Norrie disease
Riveiro-Alvarez, Rosa, Cantalapiedra, D, Vallespin, E, Aguirre-Lamban, J, Avila-Fernandez, A, Gimenez, A, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.10.2008)
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Published in Human genetics (01.10.2008)
Journal Article
Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis
Auz-Alexandre, Carmen-Laura, Vallespin, E, Aguirre-Lamban, J, Cantalapiedra, D, Avila-Fernandez, A, Villaverde-Montero, C, Ainse, E, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.04.2009)
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Published in Human genetics (01.04.2009)
Journal Article
Gene symbol: ABCA4. Disease: Macular dystrophy
Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.10.2008)
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Published in Human genetics (01.10.2008)
Journal Article
Gene symbol: ABCA4. Disease: Macular dystrophy
Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.10.2008)
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Published in Human genetics (01.10.2008)
Journal Article
Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile
Riveiro-Alvarez, Rosa, Gimenez, A, Trujillo-Tiebas, M J, Cantalapiedra, D, Vallespin, E, Aguirre-Lamban, J, Avila-Fernandez, A, Ayuso, C
Published in Human genetics (01.10.2008)
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Published in Human genetics (01.10.2008)
Journal Article
Gene symbol: ABCA4. Disease: Macular dystrophy
Aguirre-Lambán, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.10.2008)
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Published in Human genetics (01.10.2008)
Journal Article
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Garcia-Hoyos, M, Cantalapiedra, D, Martinez-Garcia, M, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.08.2009)
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Published in Human genetics (01.08.2009)
Journal Article
Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy
Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Avila-Fernandez, A, Vallespin, E, Villaverde-Montero, C, Gomez-Dominguez, B, Auz-Alexandre, C L, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.08.2009)
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Published in Human genetics (01.08.2009)
Journal Article
Gene symbol: ABCA4. Disease: Macular dystrophy
Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Trujillo-Tiebas, M J, Villaverde-Montero, C, Ayuso, C
Published in Human genetics (01.06.2008)
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Published in Human genetics (01.06.2008)
Journal Article