Not logged inSingle-guide RNA Cas9 and enhanced-deletion Cas9 rescue a recurrent USH2A-related splicing defect
De Angeli, Pietro; Spaag, Salome; Shliaga, Stefanida; Flores-Tufino, Arturo; Ritter, Malte; Nasri, Masoud; Stingl, Katarina; Kuehlewein, Laura; Wissinger, Bernd; Kohl, Susanne .png)
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SaveClinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal DystrophyBodenbender, Jan-Philipp; Bethge, Leon; Stingl, Katarina; Mazzola, Pascale; Haack, Tobias; Biskup, Saskia; Wissinger, Bernd; Weisschuh, Nicole; Kohl, Susanne; Kuehlewein, Laura Share Save Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypesBodenbender, Jan-Philipp; Marino, Valerio; Philipp, Julia; Tropitzsch, Anke; Kernstock, Christoph; Stingl, Katarina; Kempf, Melanie; Haack, Tobias B.; Zuleger, Theresia; Mazzola, Pascale; Kohl, Susanne; Weisschuh, Nicole; Dell'Orco, Daniele; Kuehlewein, Laura Share Save Share Save Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseasesWeisschuh, Nicole; Mazzola, Pascale; Zuleger, Theresia; Schaeferhoff, Karin; Kuehlewein, Laura; Kortuem, Friederike; Witt, Dennis; Liebmann, Alexandra; Falb, Ruth; Pohl, Lisa; Reith, Milda; Stuehn, Lara G.; Bertrand, Miriam; Mueller, Amelie; Casadei, Nicolas; Kelemen, Olga; Kelbsch, Carina; Kernstock, Christoph; Richter, Paul; Sadler, Francoise; Demidov, German; Schuetz, Leon; Admard, Jakob; Sturm, Marc; Grasshoff, Ute; Tonagel, Felix; Heinrich, Tilman; Nasser, Fadi; Wissinger, Bernd; Ossowski, Stephan; Kohl, Susanne; Riess, Olaf; Stingl, Katarina; Haack, Tobias B. Share Save Share Save Share Save CNGB1-related rod-cone dystrophy: A mutation review and updateNassisi, Marco; Smirnov, Vasily M.; Solis Hernandez, Cyntia; Mohand-Said, Saddek; Condroyer, Christel; Antonio, Aline; Kuehlewein, Laura; Kempf, Melanie; Kohl, Susanne; Wissinger, Bernd; Nasser, Fadi; Ragi, Sara D.; Wang, Nan-Kai; Sparrow, Janet R.; Greenstein, Vivienne C.; Michalakis, Stylianos; Mahroo, Omar A.; Ba-Abbad, Rola; Michaelides, Michel; Webster, Andrew R.; Degli Esposti, Simona; Saffren, Brooke; Capasso, Jenina; Levin, Alex; Hauswirth, William W.; Dhaenens, Claire-Marie; Defoort-Dhellemmes, Sabine; Tsang, Stephen H.; Zrenner, Eberhart; Sahel, Jose-Alain; Petersen-Jones, Simon M.; Zeitz, Christina; Audo, Isabelle Share Save A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defectKohl, Susanne; Llavona, Pablo; Sauer, Alexandra; Reuter, Peggy; Weisschuh, Nicole; Kempf, Melanie; Dehmelt, Florian Alexander; Arrenberg, Aristides B.; Sliesoraityte, Ieva; Zrenner, Eberhart; van Schooneveld, Mary J.; Rudolph, Gunther; Kuhlewein, Laura; Wissinger, Bernd Share Save Share Save Share Save Interim Results of a Multicenter Trial with the New Electronic Subretinal Implant Alpha AMS in 15 Patients Blind from Inherited Retinal DegenerationsStingl, Katarina; Schippert, Ruth; Bartz-Schmidt, Karl U.; Besch, Dorothea; Cottriall, Charles L.; Edwards, Thomas L.; Gekeler, Florian; Greppmaier, Udo; Kiel, Katja; Koitschev, Assen; Kuehlewein, Laura; MacLaren, Robert E.; Ramsden, James D.; Roider, Johann; Rothermel, Albrecht; Sachs, Helmut; Schroeder, Greta S.; Tode, Jan; Troelenberg, Nicole; Zrenner, Eberhart Share Save 
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