Ghent University Academic Bibliography

Show Sort by

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

Add to list
- Journal Article
- A1
- open access
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 (UGent) , Ine Strubbe (UGent) , Andrea Vergaro, et al.

(2023) AMERICAN JOURNAL OF OPHTHALMOLOGY. 246. p.1-9
Add to list
- Journal Article
- A1
- open access
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.
Add to list
- 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 (UGent) , Ine Strubbe (UGent) , Andrea Vergaro, et al.

(2022) ACTA OPHTHALMOLOGICA. In Acta Ophthalmologica 100(Supplement 268). p.21-21
Add to list
- Journal Article
- A2
- open access
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 (UGent) , et al.

(2022) OPHTHALMOLOGY RETINA. 6(8). p.711-722
Add to list
- Journal Article
- A1
- open access
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
Add to list
- Journal Article
- A1
- open access
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
Add to list
Where are the missing gene defects in inherited retinal disorders? : intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Christina Zeitz, Christelle Michiels, Marion Neuillé, Christoph Friedburg, Christel Condroyer, Fiona Boyard, Aline Antonio, Nassima Bouzidi, Diana Milicevic, Robin Veaux, et al.

(2019) HUMAN MUTATION. 40(6). p.765-787
Add to list
- Conference Paper
- C3
Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause 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.

(2018) American Society of Human Genetics, Annual meeting, Abstracts.
Add to list
Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene

Panagiotis I Sergouniotis, Martin McKibbin, Anthony G Robson, Hanno J Bolz, Elfride De Baere (UGent) , Philipp L Müller, Raoul Heller, Mohammed E El-Asrag, Kristof Van Schil (UGent) , Vincent Plagnol, et al.

(2015) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 56(13). p.8083-8090
Add to list
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement

Mohammed E El-Asrag, Panagiotis I Sergouniotis, Martin McKibbin, Vincent Plagnol, Eamonn Sheridan, Naushin Waseem, Zakia Abdelhamed, Declan McKeefry, Kristof Van Schil (UGent) , James A Poulter, et al.

(2015) AMERICAN JOURNAL OF HUMAN GENETICS. 96(6). p.948-954

Academic Bibliography

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

Where are the missing gene defects in inherited retinal disorders? : intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease

Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement

Contents

Support

Contact