未登录 Single-guide RNA Cas9 and enhanced-deletion Cas9 rescue a recurrent USH2A-related splicing defect 单-guide RNA Cas9和增强型删除Cas9修复了一种复发性USH2A相关剪接缺陷 De Angeli, Pietro; Spaag, Salome; Shliaga, Stefanida; Flores-Tufino, Arturo; Ritter, Malte; Nasri, Masoud; Stingl, Katarina; Kuehlewein, Laura; Wissinger, Bernd; Kohl, Susanne 分享 收藏
Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy Bodenbender, Jan-Philipp; Bethge, Leon; Stingl, Katarina; Mazzola, Pascale; Haack, Tobias; Biskup, Saskia; Wissinger, Bernd; Weisschuh, Nicole; Kohl, Susanne; Kuehlewein, Laura 分享 收藏
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KCNV2-associated retinopathy: genotype-phenotype correlations-KCNV2 study group report 3 KCNV2-associated视网膜病变: 基因型-表型correlations-KCNV2研究组报告3 de Guimaraes, Thales A. C.; Georgiou, Michalis; Robson, Anthony G.; Fujinami, Kaoru; Vincent, Ajoy; Nasser, Fadi; Khateb, Samer; Mahroo, Omar A.; Pontikos, Nikolas; Vargas, Mauricio E.; Thiadens, Alberta A. H. J.; de Carvalho, Emanuel R.; Nguyen, Xuan-Than-An; Arno, Gavin; Fujinami-Yokokawa, Yu; Liu, Xiao; Tsunoda, Kazushige; Hayashi, Takaaki; Jimenez-Rolando, Belen; Martin-Merida, Maria Inmaculada; Avila-Fernandez, Almudena; Salas, Ester Carreno; Garcia-Sandoval, Blanca; Ayuso, Carmen; Sharon, Dror; Kohl, Susanne; Huckfeldt, Rachel M.; Banin, Eyal; Pennesi, Mark E.; Khan, Arif O.; Wissinger, Bernd; Webster, Andrew R.; Heon, Elise; Boon, Camiel J. F.; Zrenner, Eberhard; Michaelides, Michel 分享 收藏
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases Weisschuh, 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. 分享 收藏
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction Reurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L. Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G. Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E.; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A.; ten Brink, Jacoline B.; Klaver, Caroline C. W.; Tranebjaerg, Lisbeth; Rendtorff, Nanna D.; Vermeer, Sascha; Smits, Jeroen J.; Pennings, Ronald J. E.; Aben, Marco; Oostrik, Jaap; Astuti, Galuh D. N.; Galbany, Jordi Corominas; Kroes, Hester Y.; Phan, Milan; Zelst-Stams, Wendy A. G. van; Thiadens, Alberta A. H. J.; Verheij, Joke B. G. M.; Schooneveld, Mary J. van; Bruijn, Suzanne E. de; Li, Catherina H. Z.; Hoyng, Carel B.; Gilissen, Christian; Vissers, Lisenka E. L. M.; Cremers, Frans P. M.; Kremer, Hannie; van Wijk, Erwin; Roosing, Susanne 分享 收藏
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The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy Xq28蓝色锥单色下的OPN1LW/OPN1MW基因簇的亚显微结构变异景观 Wissinger, Bernd; Baumann, Britta; Buena-Atienza, Elena; Ravesh, Zeinab; Cideciyan, Artur, V; Stingl, Katarina; Audo, Isabelle; Meunier, Isabelle; Bocquet, Beatrice; Traboulsi, Elias, I; Hardcastle, Alison J.; Gardner, Jessica C.; Michaelides, Michel; Branham, Kari E.; Rosenberg, Thomas; Andreasson, Sten; Dollfus, Helene; Birch, David; Vincent, Andrea L.; Martorell, Loreto; Mora, Jaume Catala; Kellner, Ulrich; Ruther, Klaus; Lorenz, Birgit; Preising, Markus N.; Manfredini, Emanuela; Zarate, Yuri A.; Vijzelaar, Raymon; Zrenner, Eberhart; Jacobson, Samuel G.; Kohl, Susanne 分享 收藏
Genome-Wide Association Study Identifies Two Common Loci Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Implicates Myopia in its Development Simcoe, Mark J.; Shah, Ameet; Fan, Baojian; Choquet, Helene; Weisschuh, Nicole; Waseem, Naushin H.; Jiang, Chen; Melles, Ronald B.; Ritch, Robert; Mahroo, Omar A.; Wissinger, Bernd; Jorgenson, Eric; Wiggs, Janey L.; Garway-Heath, David F.; Hysi, Pirro G.; Hammond, Christopher J. 分享 收藏
Adaptive optics ophthalmoscopy in retinitis pigmentosa (RP): Typical patterns Kortuem, Friederike C.; Kempf, Melanie; Kuehlewein, Laura; Nasser, Fadi; Kortuem, Constanze; Paques, Michel; Kohl, Susanne; Ueffing, Marius; Wissinger, Bernd; Zrenner, Eberhart; Stingl, Katarina 分享 收藏
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia 受全光影响的患者中CNGA3基因的综合变异谱 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; Kohl, Susanne 分享 收藏
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy Kieninger, Sinja; Xiao, Ting; Weisschuh, Nicole; Kohl, Susanne; Ruether, Klaus; Kroisel, Peter Michael; Brockmann, Tobias; Knappe, Steffi; Kellner, Ulrich; Lagreze, Wolf; Mazzola, Pascale; Haack, Tobias B.; Wissinger, Bernd; Tonagel, Felix 分享 收藏
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KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2 Georgiou, Michalis; Fujinami, Kaoru; Vincent, Ajoy; Nasser, Fadi; Khateb, Samer; Vargas, Mauricio E.; Thiadens, Alberta A. H. J.; de Carvalho, Emanuel R.; Xuan-Thanh-An Nguyen; De Guimaraes, Thales Antonio Cabral; Robson, Anthony G.; Mahroo, Omar A.; Pontikos, Nikolas; Arno, Gavin; Fujinami-Yokokawa, Yu; Leo, Shaun Michael; Liu, Xiao; Tsunoda, Kazushige; Hayashi, Takaaki; Jimenez-Rolando, Belen; Inmaculada Martin-Merida, Maria; Avila-Fernandez, Almudena; Carreno, Ester; Garcia-Sandoval, Blanca; Ayuso, Carmen; Sharon, Dror; Kohl, Susanne; Huckfeldt, Rachel M.; Boon, Camiel J. F.; Banin, Eyal; Pennesi, Mark E.; Wissinger, Bernd; Webster, Andrew R.; Heon, Elise; Khan, Arif O.; Zrenner, Eberhart; Michaelides, Michel 分享 收藏
Dominant optic atrophy: Culprit mitochondria in the optic nerve Lenaers, Guy; Neutzner, Albert; Le Dantec, Yannick; Juschke, Christoph; Xiao, Ting; Decembrini, Sarah; Swirski, Sebastian; Kieninger, Sinja; Agca, Cavit; Kim, Ungsoo S.; Reynier, Pascal; Yu-Wai-Man, Patrick; Neidhardt, John; Wissinger, Bernd 分享 收藏
Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trial Reichel, Felix Friedrich; Michalakis, Stylianos; Wilhelm, Barbara; Zobor, Ditta; Muehlfriedel, Regine; Kohl, Susanne; Weisschuh, Nicole; Sothilingam, Vithiyanjali; Kuehlewein, Laura; Kahle, Nadine; Seitz, Immanuel; Paquet-Durand, Francois; Tsang, Stephen H.; Martus, Peter; Peters, Tobias; Seeliger, Mathias; Bartz-Schmidt, Karl Ulrich; Ueffing, Marius; Zrenner, Eberhard; Biel, Martin; Wissinger, Bernd; Fischer, Dominik 分享 收藏
CNGB1-related rod-cone dystrophy: A mutation review and update CNGB1-related视锥细胞营养不良: 突变回顾与更新 Nassisi, 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 分享 收藏
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1 KCNV2-Associated视网膜病变: 遗传学、电生理学和临床Course-KCNV2研究组报告1 Georgiou, Michalis; Robson, Anthony G.; Fujinami, Kaoru; Leo, Shaun M.; Vincent, Ajoy; Nasser, Fadi; De Guimaraes, Thales Antonio Cabral; Khateb, Samer; Pontikos, Nikolas; Fujinami-Yokokawa, Yu; Liu, Xiao; Tsunoda, Kazushige; Hayashi, Takaaki; Vargas, Mauricio E.; Thiadens, Alberta A. H. J.; De Carvalho, Emanuel R.; Nguyen, Xuan-Thanh-An; Arno, Gavin; Mahroo, Omar A.; Inmaculada Martin-Merida, Maria; Jimenez-Rolando, Belen; Gordo, Gema; Carreno, Ester; Carmen, Ayuso; Sharon, Dror; Kohl, Susanne; Huckfeldt, Rachel M.; Wissinger, Bernd; Boon, Camiel J. F.; Banin, Eyal; Pennesi, Mark E.; Khan, Arif O.; Webster, Andrew R.; Zrenner, Eberhart; Heon, Elise; Michaelides, Michel 分享 收藏
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