Ghent University Academic Bibliography

Your filters: cql: author="Mckibbin, Martin" or (type any "bookEditor issueEditor" and editor="Mckibbin, Martin")

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- Journal Article
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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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- A1
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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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- 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.
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- Journal Article
- A1
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Outcome of cataract surgery in patients with retinitis pigmentosa

Xuan-Thanh-An Nguyen, Alberta A.H.J. Thiadens, Marta Fiocco, Weijen Tan, Martin McKibbin, Caroline C.W. Klaver, Magda A. Meester-Smoor, Caroline Van Cauwenbergh, Ine Strubbe, Andrea Vergaro, et al.

(2023) AMERICAN JOURNAL OF OPHTHALMOLOGY. 246. p.1-9
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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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- Conference Paper
- C3
- open access
Evaluation of visual outcome following cataract surgery in patients with retinitis pigmentosa

Xuan-Thanh-An Nguyen, Alberta A. H. J Thiadens, Marta Fiocco, Weijen Tan, Martin McKibbin, Caroline C. W Klaver, Magda A Meester-Smoor, Caroline Van Cauwenbergh, Ine Strubbe, Andrea Vergaro, et al.

(2022) ACTA OPHTHALMOLOGICA. In Acta Ophthalmologica 100(Supplement 268). p.21-21
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- Journal Article
- A2
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The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene

Leo C. Hahn, Michalis Georgiou, Hind Almushattat, Mary J. van Schooneveld, Emanuel R. de Carvalho, Nieneke L. Wesseling, Jacoline B. ten Brink, Ralph J. Florijn, Birgit I. Lissenberg-Witte, Ine Strubbe, et al.

(2022) OPHTHALMOLOGY RETINA. 6(8). p.711-722
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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

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(6). p.1319-1329

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

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

Outcome of cataract surgery in patients with retinitis pigmentosa

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

Evaluation of visual outcome following cataract surgery in patients with retinitis pigmentosa

The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene

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

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