Stijn Van de Sompele

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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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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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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Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies

Stijn Van de Sompele (UGent) , Caroline Van Cauwenbergh (UGent) , Marjolein Carron (UGent) , Alfredo Dueñas Rey (UGent) , Frauke Coppieters (UGent) , Toon Rosseel (UGent) , Hong Tran, Robrecht Cannoodt (UGent) , Thalia Van Laethem (UGent) , Brecht Guillemyn (UGent) , et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.71-71

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Comparative 3D genome analysis between neural retina and RPE reveals diferential cis-regulatory interactions at retinal disease loci

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

(2023) ASHG 2023 Annual Meeting, Abstracts.

Academic Bibliography

Stijn Van de Sompele

Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice

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

Inherited retinal disease gene panel in posterior or panuveitis with dystrophic featurs

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

Diagnostic yield of an inherited retinal disease gene panel in retinopathy of unknown origin

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

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

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

Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies

Comparative 3D genome analysis between neural retina and RPE reveals diferential cis-regulatory interactions at retinal disease loci

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