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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 MA, Giménez-Pardo A, Vélez-Monsalve C, Gallego-Merlo J, García-Vara I, Almoguera B, Bustamante-Aragonés A, Blanco-Kelly F, Tahsin-Swafiri S, Rodríguez-Pinilla E, Minguez P, Lorda I, Trujillo-Tiebas MJ, Ayuso C. Arteche-López A, et al. Sci Rep. 2021 Mar 11;11(1):5697. doi: 10.1038/s41598-021-85182-w. Sci Rep. 2021. PMID: 33707547 Free PMC article.
[Spinocerebellar ataxia type 8: the case of a Spanish family].
Mayo-Cabrero D, Sánchez-Migallón M, Cantarero S, García-Ruiz Espiga PJ, Giménez-Pardo A, Trujillo-Tiebas M, Ayuso-García C. Mayo-Cabrero D, et al. Rev Neurol. 2002 Sep 1-15;35(5):442-5. Rev Neurol. 2002. PMID: 12373678 Free article. Spanish.
Gene symbol: CFTR. Disease: Cystic fibrosis.
Trujillo-Tiebas MJ, Gallego J, García M, Lorda-Sanchez I, Ramos C, Ayuso C. Trujillo-Tiebas MJ, et al. Hum Genet. 2004 Mar;114(4):403. Hum Genet. 2004. PMID: 15046061 No abstract available.
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyas M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C. Riveiro-Alvarez R, et al. Hum Genet. 2005 Dec;118(3-4):534. Hum Genet. 2005. PMID: 16521240 No abstract available.
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C. Riveiro R, et al. Hum Genet. 2005 Dec;118(3-4):535. Hum Genet. 2005. PMID: 16521243 No abstract available.
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C. Riveiro R, et al. Hum Genet. 2005 Dec;118(3-4):535. Hum Genet. 2005. PMID: 16521244 No abstract available.
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C. Riveiro R, et al. Hum Genet. 2005 Dec;118(3-4):536. Hum Genet. 2005. PMID: 16521245 No abstract available.
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C. Riveiro R, et al. Hum Genet. 2005 Dec;118(3-4):536. Hum Genet. 2005. PMID: 16521246 No abstract available.
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