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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.
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: rodilla c.
Clin Genet. 2023 Apr;103(4):448-452. doi: 10.1111/cge.14306. Epub 2023 Feb 8.
Clin Genet. 2023.
PMID: 36719180
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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: rodilla c.
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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PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Fernández-Caballero L, Martín-Merida I, Blanco-Kelly F, Avila-Fernandez A, Carreño E, Fernandez-San Jose P, Irigoyen C, Jimenez-Rolando B, Lopez-Grondona F, Mahillo I, Martin-Gutierrez MP, Minguez P, Perea-Romero I, Del Pozo-Valero M, Riveiro-Alvarez R, Rodilla C, Rodriguez-Peña L, Sánchez-Barbero AI, Swafiri ST, Trujillo-Tiebas MJ, Zurita O, García-Sandoval B, Corton M, Ayuso C.
Fernández-Caballero L, et al. Among authors: rodilla c.
Int J Mol Sci. 2024 Mar 2;25(5):2913. doi: 10.3390/ijms25052913.
Int J Mol Sci. 2024.
PMID: 38474159
Free PMC article.
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Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
Martinez-Granero F, Blanco-Kelly F, Sanchez-Jimeno C, Avila-Fernandez A, Arteche A, Bustamante-Aragones A, Rodilla C, Rodríguez-Pinilla E, Riveiro-Alvarez R, Tahsin-Swafiri S, Trujillo-Tiebas MJ, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B.
Martinez-Granero F, et al. Among authors: rodilla c.
NPJ Genom Med. 2021 Mar 25;6(1):25. doi: 10.1038/s41525-021-00188-7.
NPJ Genom Med. 2021.
PMID: 33767182
Free PMC article.
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