Stijn Van de Sompele

Miscellaneous

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) Research Square.

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RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 66(12).

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

Andreea D. Pantiru, Stijn Van de Sompele (UGent) , Clemence Ligneul, Camille Chatelain, Christophe Barrea, Jason P. Lerch, Beatrice M. Filippi, Serpil Alkan, Elfride De Baere (UGent) , Jamie Johnston, et al.

(2025) MOLECULAR AUTISM. 16(1).

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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

Julio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele (UGent) , Karolina Kaminska, Katarina Jovanovic, Pascal Escher, Filip Van Den Broeck (UGent) , Francesca Cancellieri, Vasileios Toulis, Bart Leroy (UGent) , et al.

(2025) HUMAN MOLECULAR GENETICS. 34(9). p.821-834

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

Stéphane Abramowicz (UGent) , Audrey Meunier, Dafina Draganova, Laure Caspers, Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Elfride De Baere (UGent) , Bart Leroy (UGent) , Laurence Postelmans and François Willermain

(2025) RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 45(3). p.509-521

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

Miriam Bauwens (UGent) , Vincent De Man, Isabelle Audo, Irina Balikova, Wadih M. Zein, Vasily Smirnov, Sebastian Held, Sascha Vermeer, Elke Loos, Julie Jacob, et al.

(2025) CLINICAL GENETICS. 107(1). p.44-55

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Immunogenomics solves missing heritability and ends the diagnostic odyssey in RAG1-SCID

Marieke De Bruyne (UGent) , Lore Pottie (UGent) , Stijn Van de Sompele (UGent) , Nancy De Cabooter (UGent) , Delfien Bogaert (UGent) , Levi Hoste (UGent) , Toon Rosseel (UGent) , Kim De Leeneer (UGent) , Victoria Bordon, Jana Neirinck (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32(Supplement 2). p.1039-1039

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

Stéphane Abramowicz (UGent) , Audrey Meunier, Laurence Postelmans, Laure Caspers, Francis Corazza, Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Elfride De Baere (UGent) , Bart Leroy (UGent) , François Willermain, et al.

(2024) RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 44(9). p.1597-1607

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

Alfredo Dueñas Rey, 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).

Academic Bibliography

Stijn Van de Sompele

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

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 features

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

Immunogenomics solves missing heritability and ends the diagnostic odyssey in RAG1-SCID

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

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