Rod and Cone Function in Patients with KCNV2 Retinopathy

by Zobor, Ditta, Kohl, Susanne, Wissinger, Bernd, Zrenner, Eberhart, Jägle, Herbert
Published 2012

Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family

by Pach, Johanna, Kohl, Susanne, Gekeler, Florian, Zobor, Ditta
Published 2013

Five novel CNGB3 gene mutations in Polish patients with achromatopsia

by Wawrocka, Anna, Kohl, Susanne, Baumann, Britta, Walczak-Sztulpa, Joanna, Wicher, Katarzyna, Skorczyk-Werner, Anna, Krawczynski, Maciej R.
Published 2014

Retinal Development in Infants and Young Children with Achromatopsia

by Lee, Helena, Purohit, Ravi, Sheth, Viral, McLean, Rebecca J., Kohl, Susanne, Leroy, Bart P., Sundaram, Venki, Michaelides, Michel, Proudlock, Frank A., Gottlob, Irene
Published 2015

Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials

by Luo, Xunda, Cideciyan, Artur V., Iannaccone, Alessandro, Roman, Alejandro J., Ditta, Lauren C., Jennings, Barbara J., Yatsenko, Svetlana A., Sheplock, Rebecca, Sumaroka, Alexander, Swider, Malgorzata, Schwartz, Sharon B., Wissinger, Bernd, Kohl, Susanne, Jacobson, Samuel G.
Published 2015

In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors

by Becirovic, Elvir, Böhm, Sybille, Nguyen, Ong Nam Phuong, Riedmayr, Lisa Maria, Koch, Mirja Annika, Schulze, Elisabeth, Kohl, Susanne, Borsch, Oliver, Santos-Ferreira, Tiago, Ader, Marius, Michalakis, Stylianos, Biel, Martin
Published 2016

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

by Siemiatkowska, Anna M., van den Born, L. Ingeborgh, van Genderen, Maria M., Bertelsen, Mette, Zobor, Ditta, Rohrschneider, Klaus, van Huet, Ramon A.C., Nurohmah, Siska, Klevering, B. Jeroen, Kohl, Susanne, Faradz, Sultana M.H., Rosenberg, Thomas, den Hollander, Anneke I., Collin, Rob W.J., Cremers, Frans P.M.
Published 2014

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

by Weisschuh, Nicole, Mayer, Anja K., Strom, Tim M., Kohl, Susanne, Glöckle, Nicola, Schubach, Max, Andreasson, Sten, Bernd, Antje, Birch, David G., Hamel, Christian P., Heckenlively, John R., Jacobson, Samuel G., Kamme, Christina, Kellner, Ulrich, Kunstmann, Erdmute, Maffei, Pietro, Reiff, Charlotte M., Rohrschneider, Klaus, Rosenberg, Thomas, Rudolph, Günther, Vámos, Rita, Varsányi, Balázs, Weleber, Richard G., Wissinger, Bernd
Published 2016

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

by Astuti, Galuh D N, Sun, Vincent, Bauwens, Miriam, Zobor, Ditta, Leroy, Bart P, Omar, Amer, Jurklies, Bernhard, Lopez, Irma, Ren, Huanan, Yazar, Volkan, Hamel, Christian, Kellner, Ulrich, Wissinger, Bernd, Kohl, Susanne, De Baere, Elfride, Collin, Rob W J, Koenekoop, Robert K
Published 2015

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

by Buena-Atienza, Elena, Rüther, Klaus, Baumann, Britta, Bergholz, Richard, Birch, David, De Baere, Elfride, Dollfus, Helene, Greally, Marie T., Gustavsson, Peter, Hamel, Christian P., Heckenlively, John R., Leroy, Bart P., Plomp, Astrid S., Pott, Jan Willem R., Rose, Katherine, Rosenberg, Thomas, Stark, Zornitza, Verheij, Joke B. G. M., Weleber, Richard, Zobor, Ditta, Weisschuh, Nicole, Kohl, Susanne, Wissinger, Bernd
Published 2016

Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

by Perrault, Isabelle, Estrada-Cuzcano, Alejandro, Lopez, Irma, Kohl, Susanne, Li, Shiqiang, Testa, Francesco, Zekveld-Vroon, Renate, Wang, Xia, Pomares, Esther, Andorf, Jean, Aboussair, Nisrine, Banfi, Sandro, Delphin, Nathalie, den Hollander, Anneke I., Edelson, Catherine, Florijn, Ralph, Jean-Pierre, Marc, Leowski, Corinne, Megarbane, Andre, Villanueva, Cristina, Flores, Blanca, Munnich, Arnold, Ren, Huanan, Zobor, Ditta, Bergen, Arthur, Chen, Rui, Cremers, Frans P. M., Gonzalez-Duarte, Roser, Koenekoop, Robert K., Simonelli, Francesca, Stone, Edwin, Wissinger, Bernd, Zhang, Qingjiong, Kaplan, Josseline, Rozet, Jean-Michel
Published 2013

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

by Bonnet, Crystel, Riahi, Zied, Chantot-Bastaraud, Sandra, Smagghe, Luce, Letexier, Mélanie, Marcaillou, Charles, Lefèvre, Gaëlle M, Hardelin, Jean-Pierre, El-Amraoui, Aziz, Singh-Estivalet, Amrit, Mohand-Saïd, Saddek, Kohl, Susanne, Kurtenbach, Anne, Sliesoraityte, Ieva, Zobor, Ditta, Gherbi, Souad, Testa, Francesco, Simonelli, Francesca, Banfi, Sandro, Fakin, Ana, Glavač, Damjan, Jarc-Vidmar, Martina, Zupan, Andrej, Battelino, Saba, Martorell Sampol, Loreto, Claveria, Maria Antonia, Catala Mora, Jaume, Dad, Shzeena, Møller, Lisbeth B, Rodriguez Jorge, Jesus, Hawlina, Marko, Auricchio, Alberto, Sahel, José-Alain, Marlin, Sandrine, Zrenner, Eberhart, Audo, Isabelle, Petit, Christine
Published 2016