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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: romero r. 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.
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: romero r. Sci Rep. 2021 Mar 11;11(1):5697. doi: 10.1038/s41598-021-85182-w. Sci Rep. 2021. PMID: 33707547 Free PMC article.
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Damián A, Ionescu RO, Rodríguez de Alba M, Tamayo A, Trujillo-Tiebas MJ, Cotarelo-Pérez MC, Pérez Rodríguez O, Villaverde C, de la Fuente L, Romero R, Núñez-Moreno G, Mínguez P, Ayuso C, Cortón M. Damián A, et al. Among authors: romero r. Int J Mol Sci. 2021 Nov 24;22(23):12713. doi: 10.3390/ijms222312713. Int J Mol Sci. 2021. PMID: 34884523 Free PMC article.
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
Romero R, de la Fuente L, Del Pozo-Valero M, Riveiro-Álvarez R, Trujillo-Tiebas MJ, Martín-Mérida I, Ávila-Fernández A, Iancu IF, Perea-Romero I, Núñez-Moreno G, Damián A, Rodilla C, Almoguera B, Cortón M, Ayuso C, Mínguez P. Romero R, et al. NPJ Genom Med. 2022 Jan 27;7(1):7. doi: 10.1038/s41525-021-00278-6. NPJ Genom Med. 2022. PMID: 35087072 Free PMC article.
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. Among authors: romero r. Sci Rep. 2022 Jun 20;12(1):10369. doi: 10.1038/s41598-022-14035-x. Sci Rep. 2022. PMID: 35725860 Free PMC article.
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Iancu IF, Perea-Romero I, Núñez-Moreno G, de la Fuente L, Romero R, Ávila-Fernandez A, Trujillo-Tiebas MJ, Riveiro-Álvarez R, Almoguera B, Martín-Mérida I, Del Pozo-Valero M, Damián-Verde A, Cortón M, Ayuso C, Minguez P. Iancu IF, et al. Among authors: romero r. Int J Mol Sci. 2022 Jul 29;23(15):8431. doi: 10.3390/ijms23158431. Int J Mol Sci. 2022. PMID: 35955564 Free PMC article.
Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years.
Del Pozo-Valero M, Corton M, López-Rodríguez R, Mahillo-Fernández I, Ruiz-Hornillos J, Minguez P, Villaverde C, Pérez-Tomás ME, Barreda-Sánchez M, Mancebo E; STOP_Coronavirus Study Group; Paz-Artal E, Guillén-Navarro E, Almoguera B, Ayuso C. Del Pozo-Valero M, et al. Geroscience. 2023 Feb;45(1):543-553. doi: 10.1007/s11357-022-00666-5. Epub 2022 Oct 3. Geroscience. 2023. PMID: 36184726 Free PMC article.
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.
Martínez-Granero F, Martínez-Cayuelas E, Rodilla C, Núñez-Moreno G, Rodríguez de Alba M, Blanco-Kelly F, Romero R, Minguez P, Ayuso C, Lorda-Sanchez I, Corton M, Almoguera B. Martínez-Granero F, et al. Among authors: romero r. Clin Genet. 2023 Apr;103(4):448-452. doi: 10.1111/cge.14306. Epub 2023 Feb 8. Clin Genet. 2023. PMID: 36719180
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Rodilla C, Martín-Merida I, Blanco-Kelly F, Trujillo-Tiebas MJ, Avila-Fernandez A, Riveiro-Alvarez R, Del Pozo-Valero M, Perea-Romero I, Swafiri ST, Zurita O, Villaverde C, López MÁ, Romero R, Iancu IF, Núñez-Moreno G, Jiménez-Rolando B, Martin-Gutierrez MP, Carreño E, Minguez P, García-Sandoval B, Ayuso C, Corton M. Rodilla C, et al. Among authors: romero r. Am J Ophthalmol. 2023 Oct;254:87-103. doi: 10.1016/j.ajo.2023.05.015. Epub 2023 Jun 15. Am J Ophthalmol. 2023. PMID: 37327959 Free article.
2,650 results