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2021 | 3 |
2022 | 2 |
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Page 1
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y.
Sci Rep. 2021.
PMID: 33452396
Free PMC 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 MA, Giménez Pardo A, Vélez-Monsalve C, Gallego Merlo J, García Vara I, Blanco-Kelly F, Tahsin Swafiri S, Lorda Sánchez I, Trujillo Tiebas MJ, Ayuso C.
Arteche-López A, et al. Among authors: garcia vara i.
Sci Rep. 2022 Nov 10;12(1):19209. doi: 10.1038/s41598-022-23786-6.
Sci Rep. 2022.
PMID: 36357507
Free PMC article.
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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. Among authors: garcia vara i.
Sci Rep. 2021 Mar 11;11(1):5697. doi: 10.1038/s41598-021-85182-w.
Sci Rep. 2021.
PMID: 33707547
Free PMC article.
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Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.
López-Rodríguez R, Del Pozo-Valero M, Corton M, Minguez P, Ruiz-Hornillos J, Pérez-Tomás ME, Barreda-Sánchez M, Mancebo E, Villaverde C, Núñez-Moreno G, Romero R; STOP_Coronavirus Study Group; Paz-Artal E, Guillén-Navarro E, Almoguera B, Ayuso C.
López-Rodríguez R, et al.
Sci Rep. 2022 Jun 20;12(1):10369. doi: 10.1038/s41598-022-14035-x.
Sci Rep. 2022.
PMID: 35725860
Free PMC article.
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C.
Perea-Romero I, et al.
Sci Rep. 2021 May 10;11(1):10340. doi: 10.1038/s41598-021-89275-4.
Sci Rep. 2021.
PMID: 33972629
Free PMC article.
No abstract available.
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