Detalhe da pesquisa
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.
Artigo
Inglês
| MEDLINE | ID: mdl-35955564
2.
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.
Hum Genet
; 139(10): 1209-1231, 2020 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-32274568
3.
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Am J Ophthalmol
; 254: 87-103, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37327959
4.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-35087072
5.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-33623043
6.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Sci Rep
; 11(1): 1526, 2021 01 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33452396
7.
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.
Am J Ophthalmol
; 219: 195-204, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32619608
8.
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Sci Rep
; 11(1): 10340, 2021 May 10.
Artigo
Inglês
| MEDLINE | ID: mdl-33972629