Alfredo Dueñas Rey
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Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR variant in the RDH12 gene
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- Journal Article
- A1
- open access
Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A]; [806_810del] variants in the RDH12 gene
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Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene
-
Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene
-
Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene
-
- Journal Article
- A1
- open access
A proteogenomic atlas of the human neural retina
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Uncovering the role of non-coding regulatory variation in inherited retinal disease
(2024) -
- Journal Article
- A1
- open access
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci
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- Journal Article
- A1
- open access
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci
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Regulation of non-canonical expression of ABCA4 by an RPE-specific enhancer with implications in ABCA4-associated disease
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.39-40