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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Towards uncovering the role of incomplete penetrance in maculopathies through sequencing of 105 disease-associated genes

Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stoehr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, et al.

(2024) BIOMOLECULES. 14(3).
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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

Towards uncovering the role of incomplete penetrance in maculopathies through sequencing of 105 disease-associated genes

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

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