Ghent University Academic Bibliography

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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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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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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
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A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

Susanne Kohl, Frauke Coppieters (UGent) , Françoise Meire, Simone Schaich, Susanne Roosing, Christina Brennenstuhl, Sylvia Bolz, Maria M van Genderen, Frans CC Riemslag, the European Retinal Disease Consortium, et al.

(2012) AMERICAN JOURNAL OF HUMAN GENETICS. 91(3). p.527-532
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Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

Alejandro Estrada-Cuzcano, Kornelis Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C Falik-Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, et al.

(2012) AMERICAN JOURNAL OF HUMAN GENETICS. 90(1). p.102-109
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BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome

Alejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, Elfride De Baere (UGent) , Thomy de Ravel, Sandro Banfi, Ssusanne Kohl, Carmen Ayuso, Dror Sharon, Carel B Hoyng, et al.

(2012) ARCHIVES OF OPHTHALMOLOGY. 130(11). p.1425-1432

Academic Bibliography

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

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome

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