Alfredo Duenas Rey
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Explore the profile of Alfredo Duenas Rey including associated specialties, affiliations and a list of published articles.
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12
Citations
41
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Recent Articles
1.
Stemerdink M, Riepe T, Zomer N, Salz R, Kwint M, Oostrik J, et al.
Genome Res
. 2025 Mar;
PMID: 40037841
Sequencing technologies have long limited the comprehensive investigation of large transcripts associated with inherited retinal diseases (IRDs) like Usher syndrome, which involves 11 associated genes with transcripts up to 19.6...
2.
Riepe T, Stemerdink M, Salz R, Duenas Rey A, de Bruijn S, Boonen E, et al.
Front Genet
. 2024 Oct;
15:1451024.
PMID: 39371417
The human neural retina is a complex tissue with abundant alternative splicing and more than 10% of genetic variants linked to inherited retinal diseases (IRDs) alter splicing. Traditional short-read RNA-sequencing...
3.
Dhaene E, Lopez-Soriano V, Martinez-Garcia P, Kalayanamontri S, Duenas Rey A, Sousa-Ortega A, et al.
Genome Biol
. 2024 May;
25(1):123.
PMID: 38760655
Background: Vision depends on the interplay between photoreceptor cells of the neural retina and the underlying retinal pigment epithelium (RPE). Most genes involved in inherited retinal diseases display specific spatiotemporal...
4.
Lopez Soriano V, Duenas Rey A, Mukherjee R, Coppieters F, Bauwens M, Willaert A, et al.
Nat Commun
. 2024 May;
15(1):3935.
PMID: 38729949
No abstract available.
5.
Del Pozo-Valero M, Almoallem B, Duenas Rey A, Mahieu Q, Van Heetvelde M, Jeddawi L, et al.
Clin Genet
. 2024 Mar;
106(2):127-139.
PMID: 38468396
Leber congenital amaurosis (LCA) and early-onset retinal degeneration (EORD) are inherited retinal diseases (IRD) characterized by early-onset vision impairment. Herein, we studied 15 Saudi families by whole exome sequencing (WES)...
6.
Lopez Soriano V, Duenas Rey A, Mukherjee R, Coppieters F, Bauwens M, Willaert A, et al.
Nat Commun
. 2024 Feb;
15(1):1600.
PMID: 38383453
Cross-species genome comparisons have revealed a substantial number of ultraconserved non-coding elements (UCNEs). Several of these elements have proved to be essential tissue- and cell type-specific cis-regulators of developmental gene...
7.
Belfiori L, Duenas Rey A, Ralbovszki D, Jimenez-Ferrer I, Fredlund F, Balikai S, et al.
Front Aging Neurosci
. 2024 Feb;
16:1337365.
PMID: 38374883
Introduction: Parkinson's disease (PD) is the second most common neurodegenerative disorder, increasing both in terms of prevalence and incidence. To date, only symptomatic treatment is available, highlighting the need to...
8.
Duenas Rey A, Del Pozo Valero M, Bouckaert M, Wood K, Van den Broeck F, Varela M, et al.
Genome Med
. 2024 Jan;
16(1):7.
PMID: 38184646
Background: 5' untranslated regions (5'UTRs) are essential modulators of protein translation. Predicting the impact of 5'UTR variants is challenging and rarely performed in routine diagnostics. Here, we present a combined...
9.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Duenas Rey A, Kaseberg S, et al.
J Clin Invest
. 2023 Mar;
133(8).
PMID: 36862503
Defects in primary or motile cilia result in a variety of human pathologies, and retinal degeneration is frequently associated with these so-called ciliopathies. We found that homozygosity for a truncating...
10.
Van de Sompele S, Small K, Cicekdal M, Lopez Soriano V, Dhaene E, Shaya F, et al.
Am J Hum Genet
. 2022 Oct;
109(11):2029-2048.
PMID: 36243009
North Carolina macular dystrophy (NCMD) is a rare autosomal-dominant disease affecting macular development. The disease is caused by non-coding single-nucleotide variants (SNVs) in two hotspot regions near PRDM13 and by...