Ghent University Academic Bibliography

Your filters: cql: author="Inglehearn, Chris F." or (type any "bookEditor issueEditor" and editor="Inglehearn, Chris...

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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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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).
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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.
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- Miscellaneous
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de Sompele (UGent) , Kent W. Small, Münevver Burcu Cicekdal (UGent) , Victor Lopez Soriano, Eva D'haene (UGent) , Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt (UGent) , Alfredo Dueñas Rey, Toon Rosseel (UGent) , et al.

(2022) bioRxiv.
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New variants and in silico analyses in GRK1 associated Oguchi disease

James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor, Kaoru Fujinami, Julie De Zaeytijd (UGent) , James Bellingham, Atta Ur Rehman, Takaaki Hayashi, Mineo Kondo, Abdur Rehman, et al.

(2021) HUMAN MUTATION. 42(2). p.164-176
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Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (vol 21, pg 1319, 2019)

Stijn Van de Sompele (UGent) , Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil (UGent) , Frank Peelman (UGent) , Timothy Cherry, Toon Rosseel (UGent) , Hannah Verdin (UGent) , Julien Derolez, et al.

(2019) GENETICS IN MEDICINE. 21(4).

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

Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies

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

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

New variants and in silico analyses in GRK1 associated Oguchi disease

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (vol 21, pg 1319, 2019)

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