Project:

Hannes Syryn (UGent) , Julie Van De Velde (UGent) , Griet De Clercq (UGent) , Hannah Verdin (UGent) , Annelies Dheedene (UGent) , Frank Peelman (UGent) , Andrew Sinclair, Katie L Ayers, Ross A D Bathgate, Martine Cools (UGent) , et al.

(2024) HUMAN REPRODUCTION. 39(10). p.2353-2363

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Journal Article
A1
open access

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

Fabiola Ceroni, Münevver Burcu Cicekdal (UGent) , Richard Holt, Elena Sorokina, Nicolas Chassaing, Samuel Clokie, Thomas Naert (UGent) , Lidiya V. Talbot, Sanaa Muheisen, Dorine A. Bax, et al.

(2024) NATURE COMMUNICATIONS. 15(1).

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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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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).

Academic Bibliography

Project:

Characterising the refractive error in paediatric patients with congenital stationary night blindness : a multicentre study

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

A proteogenomic atlas of the human neural retina

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

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