Alfredo Dueñas Rey

Journal Article
A1
open access

A proteogenomic atlas of the human neural retina

Tabea V. Riepe, Merel Stemerdink, Renee Salz, Alfredo Dueñas Rey (UGent) , Suzanne E. de Bruijn, Erica Boonen, Tomasz Z. Tomkiewicz, Michael Kwint, Jolein Gloerich, Hans J. C. T. Wessels, et al.

(2024) FRONTIERS IN GENETICS. 15.

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PhD Thesis

Uncovering the role of non-coding regulatory variation in inherited retinal disease

Alfredo Dueñas Rey (UGent)

(2024)

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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

Eva D'haene (UGent) , Victor Lopez Soriano (UGent) , Pedro Manuel Martínez-García, Soraya Kalayanamontri, Alfredo Dueñas Rey (UGent) , Ana Sousa-Ortega, Silvia Naranjo, Stijn Van de Sompele (UGent) , Lies Vantomme (UGent) , Quinten Mahieu (UGent) , et al.

(2024) GENOME BIOLOGY. 25(1).

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Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

Victor Lopez Soriano (UGent) , Alfredo Dueñas Rey (UGent) , Rajarshi Mukherjee, Frauke Coppieters (UGent) , Miriam Bauwens (UGent) , Andy Willaert (UGent) and Elfride De Baere (UGent)

(2024) NATURE COMMUNICATIONS. 15(1).

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Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform

Marta del Pozo Valero (UGent) , Basamat Almoallem Mohammed, Alfredo Dueñas Rey (UGent) , Quinten Mahieu (UGent) , Mattias Van Heetvelde (UGent) , Laila Jeddawi, Miriam Bauwens (UGent) and Elfride De Baere (UGent)

(2024) CLINICAL GENETICS. p.1-13

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Regulation of non-canonical expression of ABCA4 by an RPE-specific enhancer with implications in ABCA4-associated disease

Victor Lopez Soriano (UGent) , Alfredo Dueñas Rey (UGent) , Giulia Ascari (UGent) , Münevver Burcu Cicekdal (UGent) , Eva D'haene (UGent) , Quinten Mahieu (UGent) , Hanna De Saffel (UGent) , Andy Willaert (UGent) , Kris Vleminckx (UGent) , Juan Jesus Tena-Aguilar, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.39-40

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Journal Article
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open access

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

Alfredo Dueñas Rey (UGent) , Marta del Pozo Valero (UGent) , Manon Bouckaert (UGent) , Katherine A. Wood, Filip Van Den Broeck (UGent) , Malena Daich Varela, Huw B. Thomas, Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , et al.

(2024) GENOME MEDICINE. 16(1).

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A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease

Alfredo Dueñas Rey (UGent) , Manon Bouckaert (UGent) , Marta del Pozo Valero (UGent) , Marieke De Bruyne (UGent) , Mattias Van Heetvelde (UGent) , Jamie Ellingford, Gavin Arno, Andrew Webster, Carmen Ayuso, Carlo Rivolta, et al.

(2023) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. In Investigative Ophthalmology & Visual Science 64(8).

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An integrated approach using multi-omics data to dissect cis-regulatory role of ultraconserved non-coding elements (UCNEs) in human retina

Victor Lopez Soriano (UGent) , Alfredo Dueñas Rey (UGent) , Stijn Van de Sompele (UGent) , Frauke Coppieters (UGent) , Andrew Webster, Miriam Bauwens (UGent) and Elfride De Baere (UGent)

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.5-5

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Identification and characterization of a novel retinaspecific lncRNA upstream ABCA4 with a potential role in ABCA4-associated inherited retinal disease

Alfredo Dueñas Rey (UGent) , Victor Lopez Soriano (UGent) , Zelia Corradi, Claire-Marie Dhaenens, Manon Bouckaert (UGent) , Jasper Verwilt (UGent) , Avril Watson, Majlinda Lako, Eva D'haene (UGent) , Karla Alejandra Ruiz Ceja, et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.78-79

Academic Bibliography

Alfredo Dueñas Rey

A proteogenomic atlas of the human neural retina

Uncovering the role of non-coding regulatory variation in inherited retinal disease

Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform

Regulation of non-canonical expression of ABCA4 by an RPE-specific enhancer with implications in ABCA4-associated disease

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease

An integrated approach using multi-omics data to dissect cis-regulatory role of ultraconserved non-coding elements (UCNEs) in human retina

Identification and characterization of a novel retinaspecific lncRNA upstream ABCA4 with a potential role in ABCA4-associated inherited retinal disease

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