Ghent University Academic Bibliography

Journal Article
A1
open access

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.

Add to list

Journal Article
A1
open access

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

Add to list

Journal Article
A1
open access

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).

Add to list

Journal Article
A1
open access

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

Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R. Moye, Miriam Bauwens (UGent) , Siying Lin, Lucas Janeschitz-Kriegl, Tamar Hayman, Pilar Barberán-Martínez, Regina Schlaeger, et al.

(2025) AMERICAN JOURNAL OF HUMAN GENETICS. 112(4). p.808-828

Add to list

Journal Article
A1
open access

Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies

Lude Moekotte, Joke H. de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan-Thanh-An Nguyen, Carel B. Hoyng, Chris F. Inglehearn, Martin Mckibbin, Tina M. Lamey, Jennifer A. Thompson, et al.

(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 66(2).

Add to list

Journal Article
A1
open access

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

Lieselot Vincke (UGent) , Kristof Van Schil, Hamid Ahmadieh, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, et al.

(2025) NPJ GENOMIC MEDICINE. 10(1).

Add to list

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

Austin D. Igelman, Elizabeth White, Alaa Tayyib, Lesley Everett, Ajoy Vincent, Elise Heon, Christina Zeitz, Michel Michaelides, Omar A. Mahroo, Mohamed Katta, et al.

(2025) BRITISH JOURNAL OF OPHTHALMOLOGY. 109(2). p.286-292

Add to list

Miscellaneous
open access

omicsGMF : a multi-tool for dimensionality reduction, batch correction and imputation applied to bulk- and single cell proteomics data

Alexandre Segers (UGent) , Cristian Castiglione, Christophe Vanderaa (UGent) , Elfride De Baere (UGent) , Lennart Martens (UGent) , Davide Risso and Lieven Clement (UGent)

(2025) bioRxiv.

Add to list

Miscellaneous

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, Ana Belén Iglesias-Romero, Erica G M Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, et al.

(2025) medRxiv.

Add to list

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

Academic Bibliography

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

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

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

Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies

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

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

omicsGMF : a multi-tool for dimensionality reduction, batch correction and imputation applied to bulk- and single cell proteomics data

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

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

Contents

Support

Contact