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Page 1
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
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.
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. Among authors: iancu if.
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.
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Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.
Del Pozo-Valero M, Riveiro-Alvarez R, Blanco-Kelly F, Aguirre-Lamban J, Martin-Merida I, Iancu IF, Swafiri S, Lorda-Sanchez I, Rodriguez-Pinilla E, Trujillo-Tiebas MJ, Jimenez-Rolando B, Carreño E, Mahillo-Fernandez I, Rivolta C, Corton M, Avila-Fernandez A, Garcia-Sandoval B, Ayuso C.
Del Pozo-Valero M, et al. Among authors: iancu if.
Am J Ophthalmol. 2020 Nov;219:195-204. doi: 10.1016/j.ajo.2020.06.027. Epub 2020 Jun 30.
Am J Ophthalmol. 2020.
PMID: 32619608
Free article.
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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.
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.
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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.
Int J Mol Sci. 2022 Jul 29;23(15):8431. doi: 10.3390/ijms23158431.
Int J Mol Sci. 2022.
PMID: 35955564
Free PMC article.
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