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2022
Mark The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Wissinger, Bernd ; Baumann, Britta ; Buena-Atienza, Elena ; Ravesh, Zeinab ; Cideciyan, Artur V. ; Stingl, Katarina ; Audo, Isabelle ; Meunier, Isabelle ; Bocquet, Beatrice and Traboulsi, Elias I. , et al. (2022) In Proceedings of the National Academy of Sciences of the United States of America 119(27).
- Contribution to journal › Article
2020
Mark Clinical phenotype and course of PDE6A-associated retinitis pigmentosa disease, characterized in preparation for a gene supplementation trial
Kuehlewein, Laura ; Zobor, Ditta ; Andreasson, Sten Olof ^LU ; Ayuso, Carmen ; Banfi, Sandro ; Bocquet, Beatrice ; Bernd, Antje S. ; Biskup, Saskia ; Boon, Camiel J.F. and Downes, Susan M. , et al. (2020) In JAMA Ophthalmology 138(12). p.1241-1250
- Contribution to journal › Article
2017
Mark The clinical phenotype of CNGA3-related achromatopsia : Pretreatment characterization in preparation of a gene replacement therapy trial
Zobor, Ditta ; Werner, Annette ; Stanzial, Franco ; Benedicenti, Francesco ; Rudolph, Günther ; Kellner, Ulrich ; Hamel, Christian P ; Andréasson, Sten ^LU ; Zobor, Gergely and Strasser, Torsten , et al. (2017) In Investigative Ophthalmology and Visual Science 58(2). p.821-832
- Contribution to journal › Article
2016
Mark Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh, Nicole ; Mayer, Anja K ; Strom, Tim M ; Kohl, Susanne ; Glöckle, Nicola ; Schubach, Max ; Andréasson, Sten ^LU ; Bernd, Antje ; Birch, David G and Hamel, Christian P , et al. (2016) In PLoS ONE 11(1).
- Contribution to journal › Article
2011
Mark Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia
Grau, Tanja ; Artemyev, Nikolai O. ; Rosenberg, Thomas ; Dollfus, Helene ; Haugen, Olav H. ; Sener, E. Cumhur ; Jurklies, Bernhard ; Andréasson, Sten ^LU ; Kernstock, Christoph and Larsen, Michael , et al. (2011) In Human Molecular Genetics 20(4). p.719-730
- Contribution to journal › Article
2009
Mark A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene
Chang, Bo ; Grau, Tanja ; Dangel, Susann ; Hurd, Ron ; Jurklies, Bernhard ; Sener, E. Cumhur ; Andréasson, Sten ^LU ; Dollfus, Helene ; Baumann, Britta and Bolz, Sylvia , et al. (2009) In Proceedings of the National Academy of Sciences 106(46). p.19581-19586
- Contribution to journal › Article
2002
Mark Clinical features of achromatopsia in Swedish patients with defined genotypes.
Eksandh, Louise ^LU ; Kohl, Susanne and Wissinger, Bernd (2002) In Ophthalmic Genetics 23(2). p.20-109
- Contribution to journal › Article