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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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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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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Association of common genetic variants with risperidone adverse events in a Spanish schizophrenic population
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
Published in The pharmacogenomics journal (01.04.2013)
Published in The pharmacogenomics journal (01.04.2013)
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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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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)
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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)
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Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
Riveiro-Alvarez, R, Valverde, D, Lorda-Sanchez, I, Trujillo-Tiebas, M J, Cantalapiedra, D, Vallespin, E, Aguirre-Lamban, J, Ramos, C, Ayuso, C
Published in Molecular vision (26.01.2007)
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Published in Molecular vision (26.01.2007)
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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)
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Gene symbol: ABCA4. Disease: Macular dystrophy
Maia-Lopes, Susana, Castelo-Branco, M, Silva, E, Aguirre, J, Riveiro-Alvarez, R, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.02.2008)
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Published in Human genetics (01.02.2008)
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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-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)
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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)
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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)
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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
Gene symbol: ABCA4. Disease: Stargardt disease
Maia-Lopes, Susana, Castelo-Branco, M, Silva, E, Aguirre-Lamban, J, Riveiro-Alvarez, R, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.06.2008)
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Published in Human genetics (01.06.2008)
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)
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Novel human pathological mutations. Gene symbol: RDS. Disease: macular dystrophy
Villaverde, Cristina, Trujillo-Tiebas, M J, Gallego-Merlo, J, Vallespin, E, Cantalapiedra, D, Riveiro-Alvarez, R, Carballo, M, Ayuso, C
Published in Human genetics (01.12.2007)
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Published in Human genetics (01.12.2007)
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Gene symbol: ABCA4. Disease: Macular dystrophy
Aguirre, 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)
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