Ghent University Academic Bibliography

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Mapping the 3D genome of the human retina and its role in retinal disease

Eva D'haene (UGent) , Victor Lopez Soriano (UGent) , Lies Vantomme (UGent) , Bernd Wissinger, Susanne Kohl, Sarah Vergult (UGent) and Elfride De Baere (UGent)

(2022) European Society for Human Genetics (ESHG) Conference 2022, Abstracts.
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- Conference Paper
- C3
- open access
Mapping the 3D genome of the human retina and its role in retinal disease

Eva D'haene (UGent) , Victor Lopez Soriano (UGent) , Lies Vantomme (UGent) , Bernd Wissinger, Susanne Kohl, Sarah Vergult (UGent) and Elfride De Baere (UGent)

(2022) Joint BeSHG / NVHG meeting 2022, Abstracts.
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- Journal Article
- A1
- open access
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, et al.

(2022) HUMAN MUTATION. 43(7). p.832-858
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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

Anja K. Mayer, Muhammad Mahajnah, Mervyn G. Thomas, Yuval Cohen, Adib Habib, Martin Schulze, Gail D. E. Maconachie, Basamat Almoallem Mohammed (UGent) , Elfride De Baere (UGent) , Birgit Lorenz, et al.

(2019) BRAIN. 142(6). p.1528-1534
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- Journal Article
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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens (UGent) , Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd (UGent) , Mubeen Khan, Françoise Sadler, Irina Balikova (UGent) , Caroline Van Cauwenbergh (UGent) , et al.

(2019) GENETICS IN MEDICINE. 21(8). p.1761-1771
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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
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CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

Anja K Mayer, Caroline Van Cauwenbergh (UGent) , Christine Rother, Britta Baumann, Peggy Reuter, Elfride De Baere (UGent) , Bernd Wissinger and Susanne Kohl

(2017) HUMAN MUTATION. 38(11). p.1579-1591
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- Journal Article
- A1
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De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Elena Buena-Atienza, Klaus Rüther, Britta Baumann, Richard Bergholz, David Birch, Elfride De Baere (UGent) , Helene Dollfus, Marie T Greally, Peter Gustavsson, Christian P Hamel, et al.

(2016) SCIENTIFIC REPORTS. 6.
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Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

Galuh DN Astuti, Vincent Sun, Miriam Bauwens (UGent) , Ditta Zobor, Bart Leroy (UGent) , Amer Omar, Bernhard Jurklies, Irma Lopez, Huanan Ren, Volkan Yazar, et al.

(2015) MOLECULAR GENETICS & GENOMIC MEDICINE. 3(1). p.14-29
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Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

Donna S Mackay, Arundhati Dev Borman, Ruifang Sui, L Indeborgh van den Born, Eliot L Berson, Louise A Ocaka, Alice E Davidson, John R Heckenlively, Kari Branham, Huanan Ren, et al.

(2013) HUMAN MUTATION. 34(11). p.1537-1546

Academic Bibliography

Mapping the 3D genome of the human retina and its role in retinal disease

Mapping the 3D genome of the human retina and its role in retinal disease

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

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

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

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