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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

Neubauer, J. (2017). Molecular autopsy in Sudden Infant Death Syndrome (SIDS) and Sudden Unexplained Death (SUD) in the young (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-150860
Urry, E., Jetter, A., Holst, S. C., Berger, W., Spinas, G. A., Langhans, W., & Landolt, H.-P. (2017). A case-control field study on the relationships among type 2 diabetes, sleepiness and habitual caffeine intake Journal of Psychopharmacology, 31, 233–242. https://doi.org/10.1177/0269881116668595
Kloeckener-Gruissem, B., Dours-Zimmermann, M. T., Skosyrski, S., Brunner, S., Mjaatvedt, C. H., Zimmermann, D. R., Rüther, K., & Berger, W. (2016). A potential mouse model for the erosive vitreoretinopathy of Wagner disease Matters, 20160500004. https://doi.org/10.19185/matters.201605000004
Neubauer, J., Haas, C., Bartsch, C., Medeiros-Domingo, A., & Berger, W. (2016). Erratum to: Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases International Journal of Legal Medicine, 130, 1023–1023. https://doi.org/10.1007/s00414-016-1346-z
Di Donato, N., Neuhann, T., Kahlert, A.-K., Klink, B., Hackmann, K., Neuhann, I., Novotna, B., Schallner, J., Krause, C., Glass, I. A., Parnell, S. E., Benet-Pages, A., Nissen, A. M., Berger, W., Altmüller, J., Thiele, H., Weber, B. H. F., Schrock, E., Dobyns, W. B., … Rump, A. (2016). Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt Journal of Medical Genetics, 53, 419–425. https://doi.org/10.1136/jmedgenet-2015-103511
Tiwari, A., Bahr, A., Bähr, L., Fleischhauer, J., Zinkernagel, M. S., Winkler, N., Barthelmes, D., Berger, L., Gerth-Kahlert, C., Neidhardt, J., & Berger, W. (2016). Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies Scientific Reports, 6, 28755. https://doi.org/10.1038/srep28755
Vincent, A., Ng, J., Gerth-Kahlert, C., Tavares, E., Maynes, J. T., Wright, T., Tiwari, A., Tumber, A., Li, S., Hanson, J. V. M., Bahr, A., MacDonald, H., Bähr, L., Westall, C., Berger, W., Cremers, F. P. M., den Hollander, A. I., & Héon, E. (2016). Biallelic mutations in CRB1 underlie autosomal recessive familial foveal retinoschisis Investigative Ophthalmology & Visual Science, 57, 2637–2646. https://doi.org/10.1167/iovs.15-18281
Dhayat, N., Simonin, A., Anderegg, M., Pathare, G., Lüscher, B. P., Deisl, C., Albano, G., Mordasini, D., Hediger, M. A., Surbek, D. V., Vogt, B., Sass, J. O., Kloeckener-Gruissem, B., & Fuster, D. G. (2016). Mutation in the monocarboxylate transporter 12 gene affects guanidinoacetate excretion but does not cause glucosuria Journal of the American Society of Nephrology (JASN), 27, 1426–1436. https://doi.org/10.1681/ASN.2015040411
Tiwari, A., Lemke, J., Altmueller, J., Thiele, H., Glaus, E., Fleischhauer, J., Nürnberg, P., Neidhardt, J., & Berger, W. (2016). Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations PLoS ONE, 11, e0158692. https://doi.org/10.1371/journal.pone.0158692
Neubauer, J., Haas, C., Bartsch, C., Medeiros-Domingo, A., & Berger, W. (2016). Post-mortem whole-exome sequencing(WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death(SUD) cases International Journal of Legal Medicine, 130, 1011–1021. https://doi.org/10.1007/s00414-016-1317-4
Thijssen, P. E., Ito, Y., Grillo, G., Wang, J., Velasco, G., Nitta, H., Unoki, M., Yoshihara, M., Suyama, M., Sun, Y., Lemmers, R. J. L. F., de Greef, J. C., Gennery, A., Picco, P., Kloeckener-Gruissem, B., Güngör, T., Reisli, I., Picard, C., Kebaili, K., … Sasaki, H. (2015). Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome Nature Communications, 6, 7870. https://doi.org/10.1038/ncomms8870
Da Costa, R., Glaus, E., Tiwari, A., Kloeckener-Gruissem, B., Berger, W., & Neidhardt, J. (2015). Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations Gene Therapy, 22, 413–420. https://doi.org/10.1038/gt.2014.128
Seebauer, B. (2015). Functional characterization of sequence variants in SRF, MKL1 and MKL2, presumably associated with exudative vitreoretinopathy (EVR) (Dissertation, University of Zurich)
Gerth-Kahlert, C., Seebauer, B., Dold, S., Hanson, J. V. M., Wildberger, H., Spörri, A., van Waes, H., & Berger, W. (2015). Intra-familial phenotype variability in patients with Jalili syndrome Eye, 29, 712–716. https://doi.org/10.1038/eye.2014.314
Wilson, A. B., Whittington, C. M., & Bahr, A. (2014). High intralocus variability and interlocus recombination promote immunological diversity in a minimal major histocompatibility system BMC Evolutionary Biology, 14, 273. https://doi.org/10.1186/s12862-014-0273-1
Bellos, E., Kumar, V., Lin, C., Maggi, J., Phua, Z. Y., Cheng, C.-Y., Cheung, C. M. G., Hibberd, M. L., Wong, T. Y., Coin, L. J. M., & Davila, S. (2014). cnvCapSeq: detecting copy number variation in long-range targeted resequencing data Nucleic Acids Research, 42, e158. https://doi.org/10.1093/nar/gku849
Haghighi, A., Tiwari, A., Piri, N., Nürnberg, G., Saleh-Gohari, N., Haghighi, A., Neidhardt, J., Nürnberg, P., & Berger, W. (2014). Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome PLoS ONE, 9, e112747. https://doi.org/10.1371/journal.pone.0112747
Holst, S. C., Bersagliere, A., Bachmann, V., Berger, W., Achermann, P., & Landolt, H.-P. (2014). Dopaminergic role in regulating neurophysiological markers of sleep homeostasis in humans Journal of Neuroscience, 2, 566–573. https://doi.org/10.1523/JNEUROSCI.4128-13.2014
Da Costa, R. V. (2014). Toward treating neurodegeneration-causing splice defects in the eye (Dissertation, University of Zurich)
Oczos, J., Sutter, I., Kloeckener-Gruissem, B., Berger, W., Riwanto, M., Rentsch, K., Hornemann, T., von Eckardstein, A., & Grimm, C. (2014). Lack of paraoxonase 1 alters phospholipid composition, but not morphology and function of the mouse retina Investigative Ophthalmology & Visual Science, 55, 4714–4727. https://doi.org/10.1167/iovs.14-14332

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