Browsing Universitätsbibliographie by Author "Weisschuh, Nicole"

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A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

Aung, Tin; Ozaki, Mineo; Mizoguchi, Takanori; Allingham, R. Rand; Li, Zheng; Haripriya, Aravind; Nakano, Satoko; Uebe, Steffen; Harder, Jeffrey M.; Chan, Anita S. Y.; Lee, Mei Chin; Burdon, Kathryn P.; Astakhov, Yury S.; Abu-Amero, Khaled K.; Zenteno, Juan C.; Nilguen, Yildirim; Zarnowski, Tomasz; Pakravan, Mohammad; Abu Safieh, Leen; Jia, Liyun; Wang, Ya Xing; Williams, Susan; Paoli, Daniela; Schlottmann, Patricio G.; Huang, Lulin; Sim, Kar Seng; Foo, Jia Nee; Nakano, Masakazu; Ikeda, Yoko; Kumar, Rajesh S.; Ueno, Morio; Manabe, Shin-Ichi; Hayashi, Ken; Kazama, Shigeyasu; Ideta, Ryuichi; Mori, Yosai; Miyata, Kazunori; Sugiyama, Kazuhisa; Higashide, Tomomi; Chihara, Etsuo; Inoue, Kenji; Ishiko, Satoshi; Yoshida, Akitoshi; Yanagi, Masahide; Kiuchi, Yoshiaki; Aihara, Makoto; Ohashi, Tsutomu; Sakurai, Toshiya; Sugimoto, Takako; Chuman, Hideki; Matsuda, Fumihiko; Yamashiro, Kenji; Gotoh, Norimoto; Miyake, Masahiro; Astakhov, Sergei Y.; Osman, Essam A.; Al-Obeidan, Saleh A.; Owaidhah, Ohoud; Al-Jasim, Leyla; Al Shahwan, Sami; Fogarty, Rhys A.; Leo, Paul; Yetkin, Yaz; Oguz, Cilingir; Kanavi, Mozhgan Rezaei; Beni, Afsaneh Nederi; Yazdani, Shahin; Akopov, Evgeny L.; Toh, Kai-Yee; Howell, Gareth R.; Orr, Andrew C.; Goh, Yufen; Meah, Wee Yang; Peh, Su Qin; Kosior-Jarecka, Ewa; Lukasik, Urszula; Krumbiegel, Mandy; Vithana, Eranga N.; Wong, Tien Yin; Liu, Yutao; Koch, Allison E. Ashley; Challa, Pratap; Rautenbach, Robyn M.; Mackey, David A.; Hewitt, Alex W.; Mitchell, Paul; Wang, Jie Jin; Ziskind, Ari; Carmichael, Trevor; Ramakrishnan, Rangappa; Narendran, Kalpana; Venkatesh, Rangaraj; Vijayan, Saravanan; Zhao, Peiquan; Chen, Xueyi; Guadarrama-Vallejo, Dalia; Cheng, Ching Yu; Perera, Shamira A.; Husain, Rahat; Ho, Su-Ling; Welge-Luessen, Ulrich-Christoph (2015)
A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients

Aweidah, Hamzah; Salameh, Manar; Yahalom, Claudia; Blumenfeld, Anat; Macarov, Michal; Weisschuh, Nicole; Kohl, Susanne; Banin, Eyal; Sharon, Dror (2021)
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

Kohl, 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 (2021)
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

Reith, Milda; Zeltner, Lena; Schaeferhoff, Karin; Witt, Dennis; Zuleger, Theresia; Haack, Tobias B.; Bornemann, Antje; Alber, Michael; Ruf, Susanne; Schoels, Ludger; Stingl, Katarina; Weisschuh, Nicole (2022)
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease

Boussaad, Ibrahim; Obermaier, Carolin D.; Hanss, Zoe; Bobbili, Dheeraj R.; Bolognin, Silvia; Glaab, Enrico; Wolynska, Katarzyna; Weisschuh, Nicole; De Conti, Laura; May, Caroline; Giesert, Florian; Grossmann, Dajana; Lambert, Annika; Kirchen, Susanne; Biryukov, Maria; Burbulla, Lena F.; Massart, Francois; Bohler, Jill; Cruciani, Gerald; Schmid, Benjamin; Kurz-Drexler, Annerose; May, Patrick; Duga, Stefano; Klein, Christine; Schwamborn, Jens C.; Marcus, Katrin; Woitalla, Dirk; Weisenhorn, Daniela M. Vogt; Wurst, Wolfgang; Baralle, Marco; Krainc, Dimitri; Gasser, Thomas; Wissinger, Bernd; Krueger, Rejko (2020)
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia

Weisschuh, Nicole; Wissinger, Bernd; Gramer, Eugen (2012)
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Bauwens, Miriam; Garanto, Alejandro; Sangermano, Riccardo; Naessens, Sarah; Weisschuh, Nicole; De Zaeytijd, Julie; Khan, Mubeen; Sadler, Francoise; Balikova, Irina; Van Cauwenbergh, Caroline; Rosseel, Toon; Bauwens, Jim; De Leeneer, Kim; De Jaegere, Sarah; Van Laethem, Thalia; De Vries, Meindert; Carss, Keren; Arno, Gavin; Fakin, Ana; Webster, Andrew R.; de l'Argentiere, Thomy J. L. de Ravel; Sznajer, Yves; Vuylsteke, Marnik; Kohl, Susanne; Wissinger, Bernd; Cherry, Timothy; Collin, Rob W. J.; Cremers, Frans P. M.; Leroy, Bart P.; De Baere, Elfride (2019)
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy

Burkard, Markus; Kohl, Susanne; Kraetzig, 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; Issa, Peter Charbel; Koenekoop, Robert K.; Rudolph, Guenther; Heckenlively, John; Sieving, Paul; Weleber, Richard G.; Hamel, Christian; Zong, Xiangang; Biel, Martin; Lukowski, Robert; Seeliger, Matthias W.; Michalakis, Stylianos; Wissinger, Bernd; Ruth, Peter (2018)
An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

Bauwens, Miriam; De Zaeytijd, Julie; Weisschuh, Nicole; Kohl, Susanne; Meire, Francoise; Dahan, Karin; Depasse, Fanny; De Jaegere, Sarah; De Ravel, Thomy; De Rademaeker, Marjan; Loeys, Bart; Coppieters, Frauke; Leroy, Bart P.; De Baere, Elfride (2015)
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant

Kellner, Ulrich; Weisschuh, Nicole; Weinitz, Silke; Farmand, Ghazaleh; Deutsch, Sebastian; Kortum, Friederike; Mazzola, Pascale; Schaferhoff, Karin; Marino, Valerio; Dell'Orco, Daniele (2021)
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene

Skorczyk-Werner, Anna; Chiang, Wei-Chieh; Wawrocka, Anna; Wicher, Katarzyna; Jarmuz-Szymczak, Malgorzata; Kostrzewska-Poczekaj, Magdalena; Jamsheer, Aleksander; Ploski, Rafal; Rydzanicz, Malgorzata; Pojda-Wilczek, Dorota; Weisschuh, Nicole; Wissinger, Bernd; Kohl, Susanne; Lin, Jonathan H.; Krawczynski, Maciej R. (2017)
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

Bodenbender, Jan-Philipp; Marino, Valerio; Bethge, Leon; Stingl, Katarina; Haack, Tobias B. B.; Biskup, Saskia; Kohl, Susanne; Kuehlewein, Laura; Dell'Orco, Daniele; Weisschuh, Nicole (2023)
CDHR1 mutations in retinal dystrophies

Stingl, Katarina; Mayer, Anja K.; Llavona, Pablo; Mulahasanovic, Lejla; Rudolph, Guenther; Jacobson, Samuel G.; Zrenner, Eberhart; Kohl, Susanne; Wissinger, Bernd; Weisschuh, Nicole (2017)
Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa

Kuehlewein, Laura; Strasser, Torsten; Blumenstock, Gunnar; Stingl, Katarina; Fischer, M. Dominik; Wilhelm, Barbara; Zrenner, Eberhart; Wissinger, Bernd; Kohl, Susanne; Weisschuh, Nicole; Zobor, Ditta (2022)
CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study

Feldhaus, Britta; Weisschuh, Nicole; Nasser, Fadi; Den Hollander, Anneke I.; Cremers, Frans P. M.; Zrenner, Eberhart; Kohl, Susanne; Zobor, Ditta (2020)
Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype

Priglinger, Claudia S.; Rudolph, Guenter; Schmid, Irene; Mazzola, Pascale; Haack, Tobias B.; Reith, Milda; Stingl, Katarina; Weisschuh, Nicole (2023)
Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations

Stingl, Krunoslav T.; Kuehlewein, Laura; Weisschuh, Nicole; Biskup, Saskia; Cremers, Frans P. M.; Khan, M. Imran; Kelbsch, Carina; Peters, Tobias; Ueffing, Marius; Wilhelm, Barbara; Zrenner, Eberhart; Stingl, Katarina (2019)
Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

Weisschuh, Nicole; Mazzola, Pascale; Bertrand, Miriam; Haack, Tobias B.; Wissinger, Bernd; Kohl, Susanne; Stingl, Katarina (2021)
Clinical Phenotype and Course ofPDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial

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, Guenther; Stingl, Katarina; Thiadens, Alberta A. H. J.; Wilhelm, Barbara; Wissinger, Bernd; Zrenner, Eberhart; Kohl, Susanne; Weisschuh, Nicole (2020)
Clinical phenotype of PDE6B-associated retinitis pigmentosa

Kuehlewein, Laura; Zobor, Ditta; Stingl, Katarina; Kempf, Melanie; Nasser, Fadi; Bernd, Antje; Biskup, Saskia; Cremers, Frans P. M.; Khan, Muhammad Imran; Mazzola, Pascale; Schaeferhoff, Karin; Heinrich, Tilman; Haack, Tobias B.; Wissinger, Bernd; Zrenner, Eberhart; Weisschuh, Nicole; Kohl, Susanne (2021)

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