Universität zu Köln

2019

Issa, Peter Charbel, Gliem, Martin, Yusuf, Imran H., Birtel, Johannes, Mueller, Philipp L., Mangold, Elisabeth, Downes, Susan M., MacLaren, Robert E., Betz, Christian and Bolz, Hanno J. (2019). A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G > A, a Silent Mutation Leading to In-Frame Exon Skipping. Invest. Ophthalmol. Vis. Sci., 60 (10). S. 3388 - 3398. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

2018

Birtel, Johannes, Eisenberger, Tobias, Gliem, Martin, Mueller, Philipp L., Herrmann, Philipp, Betz, Christian, Zahnleiter, Diana, Neuhaus, Christine, Lenzner, Steffen, Holz, Frank G., Mangold, Elisabeth, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2018). Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Mueller, Philipp L., Holz, Frank G., Neuhaus, Christine, Lenzner, Steffen, Zahnleiter, Diana, Betz, Christian, Eisenberger, Tobias, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2018). Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PLoS One, 13 (12). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

2017

Khan, Arif O., Becirovic, Elvir ORCID: 0000-0001-8801-0649, Betz, Christian, Neuhaus, Christine, Altmueller, Janine, Riedmayr, Lisa Maria, Motameny, Susanne, Nuernberg, Gudrun, Nuernberg, Peter and Bolz, Hanno J. (2017). A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. Sci Rep, 7. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

2015

Mueller, Philipp L., Gliem, Martin, Mangold, Elisabeth, Bolz, Hanno J., Finger, Robert P., McGuinness, Myra ORCID: 0000-0002-5422-040X, Betz, Christian, Jiang, Zhichun, Weber, Bernhard H. F., MacLaren, Robert E., Holz, Frank G., Radu, Roxana A. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2015). Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study. Invest. Ophthalmol. Vis. Sci., 56 (13). S. 8179 - 8187. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783