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Measuring Rod-and Cone-Photoreceptor-Specific Vision in Inherited Retinal Diseases Using a Commercial Perimeter Wu, Vivian; Roman, Alejandro J.; Galsterer, Emma L.; Ansari, Georg; Erdinest, Inbar; Righetti, Giulia; Viarbitskaya, Iryna; Russell, Robert C.; Kim, Rebecca J.; Charlier, Jacques; Pfau, Kristina; Stingl, Krunoslav; Banin, Eyal; Pfau, Maximilian; Stingl, Katarina; Aleman, Tomas S.; Cideciyan, Artur, V Share Save
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Single-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 Share Save
The Impacts of Caregiving for Patients with X-Linked Retinitis Pigmentosa (XLRP): Findings from the EXPLORE XLRP-2 Study Weber, M; Parmeggiani, F; Bremond-Gignac, D; Daly, A; Lahaye, M; Lotery, A; Paudel, N; Ritter, M; de la Rúa, ER; Rotenstreich, Y; Sankila, EM; Stingl, K; Van Denderen, J; Denee, T; Pungor, K Share Save
Variants in CFAP410 cause a range of retinal and skeletal phenotypes Schmidt, Ryan E.; Pohodich, Amy E.; Birch, David; Jones, Kaylie; Lam, Byron L.; Jung, Emily H.; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A.; Webster, Andrew R.; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C.; Heon, Elise; Scholl, Hendrik P. N.; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I.; Zein, Wadih; Brooks, Brian P.; Cukras, Catherine; Hufnagel, Robert; Aleman, Tomas S.; Sylla, Mohamed M.; Tsang, Stephen H.; Alabek, Michelle; Sahel, Jose; Gorin, Michael B.; van Genderen, Maria M.; Stingl, Katarina; Reith, Milda; Kohl, Susanne; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz; Vincent, Andrea L.; Hull, Sarah; Duncan, Jacque L.; Hanson, James V. M.; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; Marra, Molly; Everett, Lesley A.; Yang, Paul; Pennesi, Mark E. Share Save
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Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study Birch, David G.; Cheng, Peiyao; Maguire, Maureen G.; Duncan, Jacque L.; Ayala, Allison R.; Cheetham, Janet K.; Doucet, Nicole R.; Durham, Todd A.; Fahim, Abigail T.; Ferris, Frederick L.; Huckfeldt, Rachel M.; Melia, Michele; Michaelides, Michel; Pennesi, Mark E.; Sahel, Jose-Alain; Stingl, Katarina; Vincent, Ajoy; Weng, Christina Y. Share Save
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 Share Save
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study Igelman, Austin D.; White, Elizabeth; Tayyib, Alaa; Everett, Lesley; Vincent, Ajoy; Heon, Elise; Zeitz, Christina; Michaelides, Michel; Mahroo, Omar A.; Katta, Mohamed; Webster, Andrew; Preising, Markus; Lorenz, Birgit; Khateb, Samer; Banin, Eyal; Sharon, Dror; Luski, Shahar; Van Den Broeck, Filip; Leroy, Bart Peter; De Baere, Elfride; Walraedt, Sophie; Stingl, Katarina; Kuehlewein, Laura; Kohl, Susanne; Reith, Milda; Fulton, Anne; Raghuram, Aparna; Meunier, Isabelle; Dollfus, Helene; Aleman, Tomas S.; Bedoukian, Emma C.; O'Neil, Erin C.; Krauss, Emily; Vincent, Andrea; Jordan, Charlotte; Iannaccone, Alessandro; Sen, Parveen; Sundaramurthy, Srilekha; Nagasamy, Soumittra; Balikova, Irina; Casteels, Ingele; Borooah, Shyamanga; Yassin, Shaden; Nagiel, Aaron; Schwartz, Hillary; Zanlonghi, Xavier; Gottlob, Irene; Mclean, Rebecca J.; Munier, Francis L.; Stephenson, Andrew; Sisk, Robert; Koenekoop, Robert; Wilson, Lorri B.; Fredrick, Douglas; Choi, Dongseok; Yang, Paul; Pennesi, Mark Edward Share Save
Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire Parekh, Bela; Duncan, Jacque L.; Samarakoon, Lassana; Melia, Michele; Abalem, Maria Fernanda; Andrews, Chris A.; Audo, Isabelle; Ayala, Allison R.; Bradley, Chris; Cheetham, Janet K.; Dagnelie, Gislin; Durham, Todd A.; Huckfeldt, Rachel M.; Lacy, Gabrielle D.; Malbin, Brett; Michaelides, Michel; Musch, David C.; Peck-Dimit, Nicholas; Stingl, Katarina; Weng, Christina Y.; Zmejkoski, Alex Z.; Jayasundera, K. Thiran Share Save
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes Bodenbender, 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
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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. Share Save
A morphometric analysis of the retinal arterioles with adaptive optics imaging in RPE65-associated retinal dystrophy after treatment with voretigene neparvovec Kortuem, Friederike C.; Kempf, Melanie; Merle, David A.; Kuehlewein, Laura; Pohl, Lisa; Reith, Milda; Jung, Ronja; Ott, Saskia; Stingl, Krunoslav; Stingl, Katarina Share Save
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa Kelbsch, Carina; Kempf, Melanie; Jung, Ronja; Kortuem, Friederike; Reith, Milda; Kuehlewein, Laura; Kohl, Susanne; Strasser, Torsten; Peters, Tobias; Wilhelm, Helmut; Wilhelm, Barbara; Stingl, Krunoslav; Stingl, Katarina Share Save
Full-field Scotopic Threshold Improvement after Voretigene Neparvovec-rzyl Treatment Correlates with Chorioretinal Atrophy Stingl, Katarina; Stingl, Krunoslav; Schwartz, Hillary; Reid, Mark W.; Kempf, Melanie; Dimopoulos, Spyridon; Kortuem, Friederike; Borchert, Mark S.; Lee, Thomas C.; Nagiel, Aaron Share Save
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