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PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Int J Mol Sci. 2024 Mar 2;25(5):2913. doi: 10.3390/ijms25052913.
Int J Mol Sci. 2024.
PMID: 38474159
Free PMC article.
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.
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.
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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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