Ghent University Academic Bibliography

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

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

(2026) NATURE GENETICS. 58(1). p.169-179
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Expansion of the ABCA4-associated retinopathy spectrum : severe variants can be associated with early-onset severe retinal dystrophy

Daan M. Panneman, Rebekkah J. Hitti-Malin, Martin McKibbin, Suzanne E. de Bruijn, Erica G. M. Boonen, Andrea L. Vincent, Glenda Vargas, Jordi Corominas, Galuh Astuti, Christian Gilissen, et al.

(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 66(6).
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Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

Tamar Hayman, Shai Ovadia, Jaya Krishnan, Manon Bouckaert (UGent) , Daan M. Panneman, Milton English, Johanna Valensi, Frans P.M. Cremers, Tamar Ben Yosef, L. Ingeborgh van den Born, et al.

(2025) GENETICS IN MEDICINE. 27(7).
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Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches

Merel Stemerdink, Tabea Riepe, Nick Zomer, Renee Salz, Michael Kwint, Jaap Oostrik, Raoul Timmermans, Barbara Ferrari, Stefano Ferrari, Alfredo Dueñas Rey, et al.

(2025) GENOME RESEARCH. 35(4). p.725-739
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A proteogenomic atlas of the human neural retina

Tabea V. Riepe, Merel Stemerdink, Renee Salz, Alfredo Dueñas Rey, 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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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere (UGent) , et al.

(2023) FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. 11.

Academic Bibliography

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

Expansion of the ABCA4-associated retinopathy spectrum : severe variants can be associated with early-onset severe retinal dystrophy

Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches

A proteogenomic atlas of the human neural retina

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

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