prof. dr. Bart Leroy

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

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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

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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.

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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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Genetic testing of patients with inherited retinal diseases in the European countries : an international survey by the European Vision Institute

Giacomo Calzetti, Kerstin Schwarzwalder, Giorgia Ottonelli, Karolina Kaminska, Rupert Wolfgang Strauss, Elfride De Baere (UGent) , Bart Leroy (UGent) , Isabelle Audo, Christina Zeitz, Claus Cursiefen, et al.

(2024) OPHTHALMIC RESEARCH. 67(1). p.448-457

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Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, et al.

(2024) SCIENTIFIC REPORTS. 14(1).

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Gonadal mosaicism as a rare inheritance pattern in recessive genodermatoses : report of two cases with pseudoxanthoma elasticum and literature review

Lisa Dangreau (UGent) , Mohammad Jakir Hosen (UGent) , Julie De Zaeytijd (UGent) , Bart Leroy (UGent) , Paul Coucke (UGent) and Olivier Vanakker (UGent)

(2024) CURRENT ISSUES IN MOLECULAR BIOLOGY. 46(9). p.9998-10007

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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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Anterior scleral thickness in Marfan syndrome : a quantitative analysis

Lien Alluyn, Laure Dequeker, Siska Dhaese, Alejandra Consejo, Julie De Zaeytijd (UGent) , Bart Leroy (UGent) , Julie De Backer (UGent) and Elke O. Kreps (UGent)

(2024) ACTA OPHTHALMOLOGICA. 102(7). p.e1050-e1056

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ERN-EYE virtual clinic for rare eye diseases as a successful effort towards solving complex and rare ophthalmic conditions in Europe

Monika Grudzinska Pechhacker, Francesco Rotolo, Dorothee Leroux, Amelie Gavard, Caroline Wernert-Iberg, Maximin Begin, Bernard Coupez, Petra Liskova, Daniel Boehringer, Frank G. Holz, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.379-380

Academic Bibliography

prof. dr. Bart Leroy

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

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

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

Genetic testing of patients with inherited retinal diseases in the European countries : an international survey by the European Vision Institute

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

Gonadal mosaicism as a rare inheritance pattern in recessive genodermatoses : report of two cases with pseudoxanthoma elasticum and literature review

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

Anterior scleral thickness in Marfan syndrome : a quantitative analysis

ERN-EYE virtual clinic for rare eye diseases as a successful effort towards solving complex and rare ophthalmic conditions in Europe

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