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Anzahl der Publikationen: 6
Zeitschriftenartikel
Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Catala-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jaegle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, Andre; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Guenther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias I.; Tsang, Stephen H.; Varsanyi, Balazs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd und Kohl, Susanne
(2022):
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
In: Human Mutation, Bd. 43, Nr. 7: S. 832-858
Priglinger, Claudia S.; Rudolph, Günter; Schmid, Irene; Mazzola, Pascale; Haack, Tobias B.; Reith, Milda; Stingl, Katarina und Weisschuh, Nicole
(2022):
Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype.
In: Molecular Genetics & Genomic Medicine, Bd. 11, Nr. 3, e2120
Nagel-Wolfrum, Kerstin; Fadl, Benjamin R.; Becker, Mirjana M.; Wunderlich, Kirsten A.; Schäfer, Jessica; Sturm, Daniel; Fritze, Jacques; Gür, Burcu; Kaplan, Lew; Andreani, Tommaso; Goldmann, Tobias; Brooks, Matthew; Starostik, Margaret R.; Lokhande, Anagha; Apel, Melissa; Fath, Karl R.; Stingl, Katarina; Kohl, Susanne; DeAngelis, Margaret M.; Schlötzer-Schrehardt, Ursula; Kim, Ivana K.; Owen, Leah A.; Vetter, Jan M.; Pfeiffer, Norbert; Andrade-Navarro, Miguel A.; Grosche, Antje; Swaroop, Anand und Wolfrum, Uwe
(2022):
Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.
In: Human Molecular Genetics, Bd. 32, Nr. 3: S. 431-449
Kuehlewein, Laura; Zobor, Ditta; Andreasson, Sten Olof; Ayuso, Carmen; Banfi, Sandro; Bocquet, Beatrice; Bernd, Antje S.; Biskup, Saskia; Boon, Camiel J. F.; Downes, Susan M.; Fischer, M. Dominik; Holz, Frank G.; Kellner, Ulrich; Leroy, Bart P.; Meunier, Isabelle; Nasser, Fadi; Rosenberg, Thomas; Rudolph, Gunther; Stingl, Katarina; Thiadens, Alberta A. H. J.; Wilhelm, Barbara; Wissinger, Bernd; Zrenner, Eberhart; Kohl, Susanne und Weisschuh, Nicole
(2020):
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
In: Jama Ophthalmology, Bd. 138, Nr. 12: S. 1241-1250
Weisschuh, Nicole; Sturm, Marc; Baumann, Britta; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Branham, Kari; Brooks, Brian P.; Catala-Mora, Jaume; Giorda, Roberto; Heckenlively, John R.; Hufnagel, Robert B.; Jacobson, Samuel G.; Kellner, Ulrich; Kitsiou-Tzeli, Sofia; Matet, Alexandre; Sampol, Loreto Martorell; Meunier, Isabelle; Rudolph, Gunther; Sharon, Dror; Stingl, Katarina; Streubel, Berthold; Varsanyi, Balazs; Wissinger, Bernd und Kohl, Susanne
(2019):
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
In: Human Mutation, Bd. 41, Nr. 1: S. 255-264
Stingl, Katarina; Mayer, Anja K.; Llavona, Pablo; Mulahasanovic, Lejla; Rudolph, Günther; Jacobson, Samuel G.; Zrenner, Eberhart; Kohl, Susanne; Wissinger, Bernd und Weisschuh, Nicole
(2017):
CDHR1 mutations in retinal dystrophies.
In: Scientific Reports, Bd. 7, 6992
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