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

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

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

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Association of common genetic variants with risperidone adverse events in a Spanish schizophrenic population von Almoguera, B, Riveiro-Alvarez, R, Lopez-Castroman, J, Dorado, P, Vaquero-Lorenzo, C, Fernandez-Piqueras, J, Llerena, A, Abad-Santos, F, Baca-García, E, Dal-Ré, R, Ayuso, C

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Inherited Retinal Dystrophies in Spain: three decades of epidemiological, clinical, and genetic study von Perea-Romero, I., Fernández-Caballero, L., Iancu, I.F., Rodilla, C., Martín-Mérida, I., Ávila-Fernández, A., Almoguera, B., Riveiro-Álvarez, R., Trujillo-Tiebas, M.J., Lorda-Sánchez, I., Tahsin-Swafiri, S., López-Grondona, F., Sánchez, A.I., Blanco-Kelly, F., Pozo-Valero, M., Mínguez, P., Millán, J.M., Martín-Gutiérrez, P., Jiménez-Rolando, B., Carreño, E., García-Sandoval, B., Cortón, M., Ayuso, C.

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

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Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis von 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

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Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA) von 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

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Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease von Riveiro-Alvarez, R, Valverde, D, Lorda-Sanchez, I, Trujillo-Tiebas, M J, Cantalapiedra, D, Vallespin, E, Aguirre-Lamban, J, Ramos, C, Ayuso, C

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Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease von Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Garcia-Hoyos, M, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: ABCA4. Disease: Macular dystrophy von Maia-Lopes, Susana, Castelo-Branco, M, Silva, E, Aguirre, J, Riveiro-Alvarez, R, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: ABCA4. Disease: Macular dystrophy von Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: ABCA4. Disease: Macular dystrophy von Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: ABCA4. Disease: Macular dystrophy von Aguirre-Lambán, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C

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Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy von 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

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Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease von 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

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Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray von Ávila-Fernández, Almudena, Cantalapiedra, Diego, Aller, Elena, Vallespín, Elena, Aguirre-Lambán, Jana, Blanco-Kelly, Fiona, Corton, M, Riveiro-Álvarez, Rosa, Allikmets, Rando, Trujillo-Tiebas, María José, Millán, José M, Cremers, Frans P M, Ayuso, Carmen

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Gene symbol: ABCA4. Disease: Stargardt disease von Maia-Lopes, Susana, Castelo-Branco, M, Silva, E, Aguirre-Lamban, J, Riveiro-Alvarez, R, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: ABCA4. Disease: Macular dystrophy von Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Trujillo-Tiebas, M J, Villaverde-Montero, C, Ayuso, C

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Novel human pathological mutations. Gene symbol: RDS. Disease: macular dystrophy von Villaverde, Cristina, Trujillo-Tiebas, M J, Gallego-Merlo, J, Vallespin, E, Cantalapiedra, D, Riveiro-Alvarez, R, Carballo, M, Ayuso, C

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