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In the below list, publications with fewer than 30 authors are transferred 1:1 to ZORA. No author names are deleted. --> Reason: complete metadata per publication, also for further use (e.g. in Swisscovery).
For publications with more (>30) authors, the authors are automatically truncated to the number 30 during import. An "et al" is created in the same step. If UZH authors are omitted as a result, they are added at the end, after "et al".
For the complete list of authors in order of publication, please use the text file on this website or the original publication on ZORA.

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Publikationen

Glöckle, N., Kohl, S., Mohr, J., Scheurenbrand, T., Sprecher, A., Weisschuh, N., Bernd, A., Rudolph, G., Schubach, M., Poloschek, C. M., Zrenner, E., Biskup, S., Berger, W., Wissinger, B., & Neidhardt, J. (2014). Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies European Journal of Human Genetics, 22, 99–104. https://doi.org/10.1038/ejhg.2013.72
Oczos, J. (2014). The role of paraoxonase-1 in retinal physiology and age-related macular degeneration (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-95709
Mackay, D. S., Borman, A. D., Sui, R., van den Born, L. I., Berson, E. L., Ocaka, L. A., Davidson, A. E., Heckenlively, J. R., Branham, K., Ren, H., Lopez, I., Maria, M., Azam, M., Henkes, A., Blokland, E. A., Qamar, R., Webster, A. R., Cremers, F. P. M., Moore, A. T., … et al. (2013). Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations Human Mutation, 34, 1537–1546. https://doi.org/10.1002/humu.22398
Mohn, L. (2013). The understanding of Norrin’s role in angiogenesis. (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-79330
Weemaes, C. M. R., van Tol, A., Wang, J., van Ostajen-ten Dam, M. M., van Eggermond, M. C. J. M., Thijssen, P., Aytekin, C., Brunetti-Pierri, N., van der Burg, M., Davies, E. G., Ferster, A., Furthner, D., Gimelli, G., Gennery, A., Kloeckener-Gruissem, B., Meyn, S., Powell, C., Reisli, I., Schuetz, C., … van der Maarel, S. M. (2013). Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects European Journal of Human Genetics, 208, 1102–1112. https://doi.org/10.1038/ejhg.2013.40
Abplanalp, J., Laczko, E., Philp, N. J., Neidhardt, J., Zuercher, J., Braun, P., Schorderet, D. F., Munier, F. L., Verrey, F., Berger, W., Camargo, S. M. R., & Kloeckener-Gruissem, B. (2013). The cataract and Glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter Human Molecular Genetics, 22, 3218–3226. https://doi.org/10.1093/hmg/ddt175
Kloeckener-Gruissem, B., Neidhardt, J., Magyar, I., Plauchu, H., Zech, J. C., Morlé, L., Palmer-Smith, S. M., MacDonald, M. J., Nas, V., Fry, A. E., & Berger, W. (2013). Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome European Journal of Human Genetics, 21, 352–356. https://doi.org/10.1038/ejhg.2012.137
Bukowy-Bieryllo, Z., Zietkiewicz, E., Loges, N. T., Wittmer, M., Geremek, M., Olbrich, H., Fliegauf, M., Voelkel, K., Rutkiewicz, E., Rutland, J., Morgan, L., Pogorzelski, A., Martin, J., Haan, E., Berger, W., Omran, H., & Witt, M. (2013). RPGR mutations might cause reduced orientation of respiratory cilia Pediatric Pulmonology, 48, 352–363. https://doi.org/10.1002/ppul.22632
Collin, R. W. J., Nikopoulos, K., Dona, M., Gilissen, C., Hoischen, A., Boonstra, F. N., Poulter, J. A., Kondo, H., Berger, W., Toomes, C., Tahira, T., Mohn, L. R., Blokland, E. A., Hetterschijt, L., Ali, M., Groothuismink, J. M., Duijkers, L., Inglehearn, C. F., Sollfrank, L., … Cremers, F. P. M. (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature Proceedings of the National Academy of Sciences of the United States of America, 110, 9856–9861. https://doi.org/10.1073/pnas.1220864110
Oczos, J., Grimm, C., Barthelmes, D., Sutter, F., Menghini, M., Kloeckener-Gruissem, B., & Berger, W. (2013). Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD) Age, 35, 1651–1662. https://doi.org/10.1007/s11357-012-9467-x
Schmid, F., Hiller, T., Korner, G., Glaus, E., Berger, W., & Neidhardt, J. (2013). A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs Human Gene Therapy, 32, 815–824. https://doi.org/10.1089/hum.2012.110
Thun, G. A., Imboden, M., Berger, W., Rochat, T., & Probst-Hensch, N. M. (2013). The association of a variant in the cell cycle control gene CCND1 and obesity on the development of asthma in the Swiss SAPALDIA study Journal of Asthma, 50, 147–154. https://doi.org/10.3109/02770903.2012.757776
Bachmann, V., Klein, C., Bodenmann, S., Schäfer, N., Berger, W., Brugger, P., & Landolt, H. P. (2012). The BDNF Val66Met polymorphisms modulates sleep intensity: EEG frequency- and state-specificity Sleep, 35, 335–344. https://doi.org/10.5665/sleep.1690
Audo, I., Bujakowska, K., Orhan, E., Poloschek, C. M., Defoort-Dhellemmes, S., Drumare, I., Kohl, S., Luu, T. D., Lecompte, O., Zrenner, E., Lancelot, M.-E., Antonio, A., Germain, A., Michiels, C., Audier, C., Letexier, M., Saraiva, J.-P., Leroy, B. P., Munier, F. L., … Zeitz, C. (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness American Journal of Human Genetics, 90, 321–330. https://doi.org/10.1016/j.ajhg.2011.12.007
Bachmann, V., Klaus, F., Bodenmann, S., Schäfer, N., Brugger, P., Huber, S., Berger, W., & Landolt, H. P. (2012). Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans Cerebral Cortex, 22, 962–970. https://doi.org/10.1093/cercor/bhr173
Menghini, M., Kloeckener-Gruissem, B., Fleischhauer, J., Kurz-Levin, M. M., Sutter, F. K. P., Berger, W., & Barthelmes, D. (2012). Impact of loading phase, initial response and CFH genotype on the long-term outcome of treatment for neovascular age-related macular degeneration PLoS ONE, 7, e42014. https://doi.org/10.1371/journal.pone.0042014
Zürcher, J. (2012). Molecular Mechanisms of Sprouting Angiogenesis in the Retina: Crosstalk between Notch and Norrin-Wnt signaling (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-64391
Cosson, L., Toutain, A., Simard, G., Kulik, W., Matyas, G., Guichet, A., Blasco, H., Maakaroun-Vermesse, Z., Vaillant, M.-C., Le Caignec, C., Chantepie, A., & Labarthe, F. (2012). Barth syndrome in a female patient Molecular Genetics and Metabolism, 106, 115–120. https://doi.org/10.1016/j.ymgme.2012.01.015
Zuercher, J., Fritzsche, M., Feil, S., Mohn, L., & Berger, W. (2012). Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells Human Molecular Genetics, 21, 2619–2630. https://doi.org/10.1093/hmg/dds087
Zweifel, S. A., Maygar, I., Berger, W., Tschuor, P., Becker, M., & Michels, S. (2012). Multimodal imaging of autosomal dominant drusen Klinische Monatsblätter Für Augenheilkunde, 229, 399–402. https://doi.org/10.1055/s-0031-1299404

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