Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

124 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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: minguez p. Sci Rep. 2021 Mar 11;11(1):5697. doi: 10.1038/s41598-021-85182-w. Sci Rep. 2021. PMID: 33707547 Free PMC article.
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
Sanchez-Navarro I, R J da Silva L, Blanco-Kelly F, Zurita O, Sanchez-Bolivar N, Villaverde C, Lopez-Molina MI, Garcia-Sandoval B, Tahsin-Swafiri S, Minguez P, Riveiro-Alvarez R, Lorda I, Sanchez-Alcudia R, Perez-Carro R, Valverde D, Liu Y, Tian L, Hakonarson H, Avila-Fernandez A, Corton M, Ayuso C. Sanchez-Navarro I, et al. Among authors: minguez p. Sci Rep. 2018 Mar 27;8(1):5285. doi: 10.1038/s41598-018-23520-1. Sci Rep. 2018. PMID: 29588463 Free PMC article.
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Martin-Merida I, Aguilera-Garcia D, Fernandez-San Jose P, Blanco-Kelly F, Zurita O, Almoguera B, Garcia-Sandoval B, Avila-Fernandez A, Arteche A, Minguez P, Carballo M, Corton M, Ayuso C. Martin-Merida I, et al. Among authors: minguez p. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2345-2354. doi: 10.1167/iovs.18-23854. Invest Ophthalmol Vis Sci. 2018. PMID: 29847639
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
Pérez-Carro R, Blanco-Kelly F, Galbis-Martínez L, García-García G, Aller E, García-Sandoval B, Mínguez P, Corton M, Mahíllo-Fernández I, Martín-Mérida I, Avila-Fernández A, Millán JM, Ayuso C. Pérez-Carro R, et al. Among authors: minguez p. PLoS One. 2018 Jun 18;13(6):e0199048. doi: 10.1371/journal.pone.0199048. eCollection 2018. PLoS One. 2018. PMID: 29912909 Free PMC article.
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. Among authors: minguez p. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Iancu IF, Avila-Fernandez A, Arteche A, Trujillo-Tiebas MJ, Riveiro-Alvarez R, Almoguera B, Martin-Merida I, Del Pozo-Valero M, Perea-Romero I, Corton M, Minguez P, Ayuso C. Iancu IF, et al. Among authors: minguez p. NPJ Genom Med. 2021 Feb 23;6(1):18. doi: 10.1038/s41525-021-00182-z. NPJ Genom Med. 2021. PMID: 33623043 Free PMC article.
IL-6-based mortality prediction model for COVID-19: Validation and update in multicenter and second wave cohorts.
Utrero-Rico A, Ruiz-Hornillos J, González-Cuadrado C, Rita CG, Almoguera B, Minguez P, Herrero-González A, Fernández-Ruiz M, Carretero O, Taracido-Fernández JC, López-Rodriguez R, Corton M, Aguado JM, Villar LM, Ayuso-García C, Paz-Artal E, Laguna-Goya R. Utrero-Rico A, et al. Among authors: minguez p. J Allergy Clin Immunol. 2021 May;147(5):1652-1661.e1. doi: 10.1016/j.jaci.2021.02.021. Epub 2021 Mar 1. J Allergy Clin Immunol. 2021. PMID: 33662370 Free PMC article. Clinical Trial.
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. Among authors: minguez p. 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.
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 MJ, Lopez-Rodriguez R, Rodriguez de Alba M, Iancu IF, Romero R, Quinodoz M, Hakonarson H, Garcia-Sandova B, Minguez P, Corton M, Rivolta C, Ayuso C. Perea-Romero I, et al. Among authors: minguez p. Hum Genet. 2021 Dec;140(12):1665-1678. doi: 10.1007/s00439-021-02343-7. Epub 2021 Aug 26. Hum Genet. 2021. PMID: 34448047 Free PMC article.
High SARS-CoV-2 viral load is associated with a worse clinical outcome of COVID-19 disease.
Soria ME, Cortón M, Martínez-González B, Lobo-Vega R, Vázquez-Sirvent L, López-Rodríguez R, Almoguera B, Mahillo I, Mínguez P, Herrero A, Taracido JC, Macías-Valcayo A, Esteban J, Fernandez-Roblas R, Gadea I, Ruíz-Hornillos J, Ayuso C, Perales C. Soria ME, et al. Among authors: minguez p. Access Microbiol. 2021 Sep 21;3(9):000259. doi: 10.1099/acmi.0.000259. eCollection 2021. Access Microbiol. 2021. PMID: 34712904 Free PMC article.
124 results