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2022
Liu, Hanhan, Bell, Katharina, Herrmann, Anja, Arnhold, Stefan, Mercieca, Karl, Anders, Fabian, Nagel-Wolfrum, Kerstin, Thanos, Solon and Prokosch, Verena (2022). Crystallins Play a Crucial Role in Glaucoma and Promote Neuronal Cell Survival in an In Vitro Model Through Modulating Muller Cell Secretion. Invest. Ophthalmol. Vis. Sci., 63 (8). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783
2021
Gabriel, Elke, Albanna, Walid, Pasquini, Giovanni ORCID: 0000-0002-5750-6307, Ramani, Anand, Josipovic, Natasa ORCID: 0000-0001-7683-0869, Mariappan, Aruljothi, Schinzel, Friedrich, Karch, Celeste M., Bao, Guobin, Gottardo, Marco, Suren, Ata Alp, Hescheler, Jurgen, Nagel-Wolfrum, Kerstin, Persico, Veronica, Rizzoli, Silvio O., Altmuller, Janine, Riparbelli, Maria Giovanna, Callaini, Giuliano, Goureau, Olivier, Papantonis, Argyris, Busskamp, Volker, Schneider, Toni and Gopalakrishnan, Jay (2021). Human brain organoids assemble functionally integrated bilateral optic vesicles. Cell Stem Cell, 28 (10). S. 1740 - 1767. CAMBRIDGE: CELL PRESS. ISSN 1875-9777
2017
Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Mueller-Hofstede, Cornelie, Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Heller, Raoul, Beck, Bodo, Ruether, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stoehr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel-Wolfrum, Kerstin, Khan, Arif O. and Bolz, Hanno J. (2017). Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. Mol. Genet. Genom. Med., 5 (5). S. 531 - 553. HOBOKEN: WILEY. ISSN 2324-9269
2016
Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Stern-Schneider, Gabi, Nuernberg, Peter, Karnati, Srikanth ORCID: 0000-0001-9083-2916, Swan, Daniel ORCID: 0000-0001-8978-8129, Fateen, Ekram ORCID: 0000-0002-0777-0417, Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I., Thiele, Holger, Wolfrum, Uwe, Baumgart-Vogt, Eveline ORCID: 0000-0002-8265-3763 and Bolz, Hanno J. (2016). PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Hum. Mutat., 37 (2). S. 170 - 175. HOBOKEN: WILEY. ISSN 1098-1004
2015
Khan, Arif O., Eisenberger, Tobias, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe and Bolz, Hanno J. (2015). C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium. Br. J. Ophthalmol., 99 (12). S. 1725 - 1732. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2079
2014
Karlstetter, Marcus, Sorusch, Nasrin, Caramoy, Albert, Dannhausen, Katharina, Aslanidis, Alexander, Fauser, Sascha, Boesl, Michael R., Nagel-Wolfrum, Kerstin, Tamm, Ernst R., Jaegle, Herbert, Stoehr, Heidi, Wolfrum, Uwe and Langmann, Thomas (2014). Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. Hum. Mol. Genet., 23 (19). S. 5197 - 5211. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083