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Anzahl der Publikationen: 12
Zeitschriftenartikel
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
Kohl, Susanne; Llavona, Pablo; Sauer, Alexandra; Reuter, Peggy; Weisschuh, Nicole; Kempf, Melanie; Dehmelt, Florian Alexander; Arrenberg, Aristides B.; Sliesoraityte, Ieva; Zrenner, Eberhart; Schooneveld, Mary J. van; Rudolph, Gunther; Kuhlewein, Laura und Wissinger, Bernd
(2021):
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
In: Human Molecular Genetics, Bd. 30, Nr. 13: S. 1218-1229
Reichel, Felix Friedrich 
ORCID: https://orcid.org/0000-0001-9325-5616; Michalakis, Stylianos ORCID: https://orcid.org/0000-0001-5092-9238; Wilhelm, Barbara; Zobor, Ditta; Muehlfriedel, Regine; Kohl, Susanne; Weisschuh, Nicole; Sothilingam, Vithiyanjali; Kuehlewein, Laura ORCID: https://orcid.org/0000-0003-1906-8681; Kahle, Nadine; Seitz, Immanuel ORCID: https://orcid.org/0000-0002-3086-6425; Paquet-Durand, Francois ORCID: https://orcid.org/0000-0001-7355-5742; Tsang, Stephen H.; Martus, Peter; Peters, Tobias; Seeliger, Mathias; Bartz-Schmidt, Karl Ulrich; Ueffing, Marius; Zrenner, Eberhard; Biel, Martin; Wissinger, Bernd und Fischer, Dominik
(2021):
Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trial.
In: British Journal of Ophthalmology, Bd. 106, Nr. 11: S. 1567-1572
ORCID: https://orcid.org/0000-0001-9325-5616; Michalakis, Stylianos ORCID: https://orcid.org/0000-0001-5092-9238; Wilhelm, Barbara; Zobor, Ditta; Muehlfriedel, Regine; Kohl, Susanne; Weisschuh, Nicole; Sothilingam, Vithiyanjali; Kuehlewein, Laura ORCID: https://orcid.org/0000-0003-1906-8681; Kahle, Nadine; Seitz, Immanuel ORCID: https://orcid.org/0000-0002-3086-6425; Paquet-Durand, Francois ORCID: https://orcid.org/0000-0001-7355-5742; Tsang, Stephen H.; Martus, Peter; Peters, Tobias; Seeliger, Mathias; Bartz-Schmidt, Karl Ulrich; Ueffing, Marius; Zrenner, Eberhard; Biel, Martin; Wissinger, Bernd und Fischer, Dominik
(2021):
Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trial.
In: British Journal of Ophthalmology, Bd. 106, Nr. 11: S. 1567-1572
Fischer, M. Dominik; Michalakis, Stylianos; Wilhelm, Barbara; Zobor, Ditta; Muehlfriedel, Regine; Kohl, Susanne; Weisschuh, Nicole; Ochakovski, G. Alex; Klein, Reinhild; Schoen, Christian; Sothilingam, Vithiyanjali; Garcia-Garrido, Marina; Kuehlewein, Laura; Kahle, Nadine; Werner, Annette; Dauletbekov, Daniyar; Paquet-Durand, Francois; Tsang, Stephen; Martus, Peter; Peters, Tobias; Seeliger, Mathias; Bartz-Schmidt, Karl Ulrich; Ueffing, Marius; Zrenner, Eberhart; Biel, Martin und Wissinger, Bernd
(2020):
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia A Nonrandomized Controlled Trial.
In: Jama Ophthalmology, Bd. 138, Nr. 6: S. 643-651
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
Boussaad, Ibrahim ORCID: https://orcid.org/0000-0002-3512-3364; Obermaier, Carolin D. ORCID: https://orcid.org/0000-0001-6653-8215; Hanss, Zoé ORCID: https://orcid.org/0000-0002-3659-3624; Bobbili, Dheeraj R.; Bolognin, Silvia ORCID: https://orcid.org/0000-0002-1399-2999; Glaab, Enrico ORCID: https://orcid.org/0000-0003-3977-7469; Wołyńska, Katarzyna ORCID: https://orcid.org/0000-0002-8377-8496; Weisschuh, Nicole; De Conti, Laura ORCID: https://orcid.org/0000-0003-4391-3638; May, Caroline ORCID: https://orcid.org/0000-0002-6532-5979; Giesert, Florian ORCID: https://orcid.org/0000-0001-6825-8858; Grossmann, Dajana; Lambert, Annika ORCID: https://orcid.org/0000-0003-4503-4266; Kirchen, Susanne ORCID: https://orcid.org/0000-0003-0211-1815; Biryukov, Maria; Burbulla, Lena F. ORCID: https://orcid.org/0000-0002-6548-905X; Massart, Francois ORCID: https://orcid.org/0000-0001-5590-3344; Bohler, Jill; Cruciani, Gérald; Schmid, Benjamin ORCID: https://orcid.org/0000-0002-0028-888X; Kurz-Drexler, Annerose ORCID: https://orcid.org/0000-0001-9108-6994; May, Patrick ORCID: https://orcid.org/0000-0001-8698-3770; Duga, Stefano ORCID: https://orcid.org/0000-0003-3457-1410; Klein, Christine; Schwamborn, Jens C. ORCID: https://orcid.org/0000-0003-4496-0559; Marcus, Katrin ORCID: https://orcid.org/0000-0002-3313-8845; Woitalla, Dirk; Vogt Weisenhorn, Daniela M. ORCID: https://orcid.org/0000-0002-4566-6506; Wurst, Wolfgang ORCID: https://orcid.org/0000-0003-4422-7410; Baralle, Marco ORCID: https://orcid.org/0000-0002-0417-1013; Krainc, Dimitri ORCID: https://orcid.org/0000-0002-4716-1886; Gasser, Thomas ORCID: https://orcid.org/0000-0002-1069-1146; Wissinger, Bernd ORCID: https://orcid.org/0000-0001-8964-5953 und Krüger, Rejko ORCID: https://orcid.org/0000-0003-4258-6241
(2020):
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson’s disease.
In: Science Translational Medicine, Bd. 12, Nr. 560
ORCID: https://orcid.org/0000-0002-3512-3364; Obermaier, Carolin D. ORCID: https://orcid.org/0000-0001-6653-8215; Hanss, Zoé ORCID: https://orcid.org/0000-0002-3659-3624; Bobbili, Dheeraj R.; Bolognin, Silvia ORCID: https://orcid.org/0000-0002-1399-2999; Glaab, Enrico ORCID: https://orcid.org/0000-0003-3977-7469; Wołyńska, Katarzyna ORCID: https://orcid.org/0000-0002-8377-8496; Weisschuh, Nicole; De Conti, Laura ORCID: https://orcid.org/0000-0003-4391-3638; May, Caroline ORCID: https://orcid.org/0000-0002-6532-5979; Giesert, Florian ORCID: https://orcid.org/0000-0001-6825-8858; Grossmann, Dajana; Lambert, Annika ORCID: https://orcid.org/0000-0003-4503-4266; Kirchen, Susanne ORCID: https://orcid.org/0000-0003-0211-1815; Biryukov, Maria; Burbulla, Lena F. ORCID: https://orcid.org/0000-0002-6548-905X; Massart, Francois ORCID: https://orcid.org/0000-0001-5590-3344; Bohler, Jill; Cruciani, Gérald; Schmid, Benjamin ORCID: https://orcid.org/0000-0002-0028-888X; Kurz-Drexler, Annerose ORCID: https://orcid.org/0000-0001-9108-6994; May, Patrick ORCID: https://orcid.org/0000-0001-8698-3770; Duga, Stefano ORCID: https://orcid.org/0000-0003-3457-1410; Klein, Christine; Schwamborn, Jens C. ORCID: https://orcid.org/0000-0003-4496-0559; Marcus, Katrin ORCID: https://orcid.org/0000-0002-3313-8845; Woitalla, Dirk; Vogt Weisenhorn, Daniela M. ORCID: https://orcid.org/0000-0002-4566-6506; Wurst, Wolfgang ORCID: https://orcid.org/0000-0003-4422-7410; Baralle, Marco ORCID: https://orcid.org/0000-0002-0417-1013; Krainc, Dimitri ORCID: https://orcid.org/0000-0002-4716-1886; Gasser, Thomas ORCID: https://orcid.org/0000-0002-1069-1146; Wissinger, Bernd ORCID: https://orcid.org/0000-0001-8964-5953 und Krüger, Rejko ORCID: https://orcid.org/0000-0003-4258-6241
(2020):
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson’s disease.
In: Science Translational Medicine, Bd. 12, Nr. 560
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
Tobias, Peters; Philipp, Seitz Immanuel; Stylianos, Michalakis; Martin, Biel; Barbara, Wilhelm; Felix, Reichel; Alexander, Ochakovski Guy; Eberhart, Zrenner; Marius, Ueffing; Birgit, Korbmacher; Sven, Korte; Ulrich, Bartz-Schmidt Karl; Dominik, Fischer Manuel; Bartz-Schmidt, Karl Ulrich; Bolz, Sylvia; Fischer, Dominik; Kohl, Susanne; Kuehlewein, Laura; Muehlfriedel, Regine; Neubauer, Jonas; Ochakovski, Alex; Paquet-Durand, Francois; Seeliger, Mathias; Sothilingam, Vithiyanjali; Ueffing, Marius; Weisschuh, Nicole; Wissinger, Bernd; Zhour, Ahmad; Zobor, Ditta; Zrenner, Eberhart; Biel, Martin; Michalakis, Stylianos; Schön, Christian; Kahle, Nadine; Peters, Tobias; Wilhelm, Barbara; Tsang, Steven und Gloeckner, Christian Johannes
(2019):
Safety and Toxicology of Ocular Gene Therapy with Recombinant AAV Vector rAAV.hCNGA3 in Nonhuman Primates.
In: Human Gene Therapy Clinical Development, Bd. 30, Nr. 2: S. 50-56
Burkard, Markus; Kohl, Susanne; Kratzig, Timm; Tanimoto, Naoyuki; Brennenstuhl, Christina; Bausch, Anne E.; Junger, Katrin; Reuter, Peggy; Sothilingam, Vithiyanjali; Beck, Susanne C.; Huber, Gesine; Ding, Xi-Qin; Mayer, Anja K.; Baumann, Britta; Weisschuh, Nicole; Zobor, Ditta; Hahn, Gesa-Astrid; Kellner, Ulrich; Venturelli, Sascha; Becirovic, Elvir; Charbel Issa, Peter; Koenekoop, Robert K.; Rudolph, Gunther; Heckenlively, John; Sieving, Paul; Weleber, Richard G.; Hamel, Christian; Zong, Xiangang; Biel, Martin; Lukowski, Robert; Seeliger, Matthias W.; Michalakis, Stylianos; Wissinger, Bernd und Ruth, Peter
(2018):
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
In: The Journal of Clinical Investigation, Bd. 128, Nr. 12: S. 5663-5675
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
[PDF, 4MB]
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. und Wissinger, Bernd
(2016):
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
In: PLOS ONE 11(1), e0145951 [PDF, 378kB]
In: PLOS ONE 11(1), e0145951 [PDF, 378kB]
Zobor, Ditta; Kuehlewein, Laura; Weisschuh, Nicole; Hamel, Christian P.; Leroy, Bart Peter; Andreasson, Sten; Carmen, Ayuso; Rudolph, Guenther; Wissinger, Bernd; Kohl, Susanne und Zrenner, Eberhart
(2016):
Clinical characterization and genotype phenotype correlations in PDE6A-related retinitis pigmentosa.
In: Investigative Ophthalmology & Visual Science, Bd. 57, Nr. 12