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1.
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Int J Mol Sci
; 23(15)2022 Jul 29.
Article
in English
| MEDLINE | ID: mdl-35955564
2.
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Am J Ophthalmol
; 254: 87-103, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37327959
3.
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
NPJ Genom Med
; 7(1): 7, 2022 Jan 27.
Article
in English
| MEDLINE | ID: mdl-35087072
4.
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
NPJ Genom Med
; 6(1): 18, 2021 Feb 23.
Article
in English
| MEDLINE | ID: mdl-33623043
5.
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.
Am J Ophthalmol
; 219: 195-204, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32619608
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