Bachmann-Gagescu Group - Publications

ZORA Publication List

Publications

• Bachmann-Gagescu, R., & Neuhauss, S. C. F. (2019). The photoreceptor cilium and its diseases Current Opinion in Genetics & Development, 56, 22–33. https://doi.org/10.1016/j.gde.2019.05.004
• Hiatt, S. M., Thompson, M. L., Prokop, J. W., Lawlor, J. M. J., Gray, D. E., Bebin, E. M., Rinne, T., Kempers, M., Pfundt, R., van Bon, B. W., Mignot, C., Nava, C., Depienne, C., Kalsner, L., Rauch, A., Joset, P., Bachmann-Gagescu, R., Wentzensen, I. M., McWalter, K., & Cooper, G. M. (2019). Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder American Journal of Human Genetics, 104, 701–708. https://doi.org/10.1016/j.ajhg.2019.02.002
• Ojeda Naharros, I., Cristian, F. B., Zang, J., Gesemann, M., Ingham, P. W., Neuhauss, S. C. F., & Bachmann-Gagescu, R. (2018). Publisher Correction: The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance Scientific Reports, 8, 12534. https://doi.org/10.1038/s41598-018-30671-8
• Ojeda Naharros, I., Cristian, F. B., Zang, J., Gesemann, M., Ingham, P. W., Neuhauss, S. C. F., & Bachmann-Gagescu, R. (2018). The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance Scientific Reports, 8, 2211. https://doi.org/10.1038/s41598-018-20489-9
• Bachmann-Gagescu, R. (2018). Génétique médicale: Conséquences du diagnostic ­génétique «next generation» Swiss Medical Forum, 18, 16–18. https://doi.org/10.4414/fms.2018.03122
• Phelps, I. G., Dempsey, J. C., Grout, M. E., Isabella, C. R., Tully, H. M., Doherty, D., & Bachmann-Gagescu, R. (2018). Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity Genetics in Medicine, 20, 223–233. https://doi.org/10.1038/gim.2017.94
• Ojeda Naharros, I., Gesemann, M., Mateos, J. M., Barmettler, G., Forbes, A., Ziegler, U., Neuhauss, S. C. F., & Bachmann-Gagescu, R. (2017). Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors PLoS Genetics, 13, e1007150. https://doi.org/10.1371/journal.pgen.1007150
• Mateos, J. M., Barmettler, G., Doehner, J., Ojeda Naharros, I., Guhl, B., Neuhauss, S. C. F., Kaech, A., Bachmann-Gagescu, R., & Ziegler, U. (2017). Correlative super-resolution and electron microscopy to resolve protein localization in zebrafish retina Journal of Visualized Experiments, 129, e56113. https://doi.org/10.3791/56113
• Van De Weghe, J. C., Rusterholz, T. D. S., Latour, B., Grout, M. E., Aldinger, K. A., Shaheen, R., Dempsey, J. C., Maddirevula, S., Cheng, Y.-H. H., Phelps, I. G., Gesemann, M., Goel, H., Birk, O. S., Alanzi, T., Rawashdeh, R., Khan, A. O., Bamshad, M. J., Nickerson, D. A., Neuhauss, S. C. F., … Doherty, D. (2017). Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish American Journal of Human Genetics, 101, 23–36. https://doi.org/10.1016/j.ajhg.2017.05.010
• Dempsey, J. C., Phelps, I. G., Bachmann-Gagescu, R., Glass, I. A., Tully, H. M., & Doherty, D. (2017). Mortality in Joubert syndrome American Journal of Medical Genetics. Part A, 173, 1237–1242. https://doi.org/10.1002/ajmg.a.38158
• Ojeda Naharros, I. (2017). Modelling ciliopathies in the zebrafish: elucidating the role of CC2D2A and TALPID3 in photoreceptor development and function (Dissertation, University of Zurich) https://doi.org/10.5167/uzh-204979
• Dona, M., Bachmann-Gagescu, R., Texier, Y., Toedt, G., Hetterschijt, L., Tonnaer, E. L., Peters, T. A., van Beersum, S. E. C., Bergboer, J. G. M., Horn, N., de Vrieze, E., Slijkerman, R. W. N., van Reeuwijk, J., Flik, G., Keunen, J. E., Ueffing, M., Gibson, T. J., Roepman, R., Boldt, K., … van Wijk, E. (2015). NINL and DZANK1 co-function in vesicle transport and are essential for photoreceptor development in Zebrafish PLoS Genetics, 11, e1005574. https://doi.org/10.1371/journal.pgen.1005574
• Bachmann-Gagescu, R., Dona, M., Hetterschijt, L., Tonnaer, E., Peters, T., de Vrieze, E., Mans, D. A., van Beersum, S. E. C., Phelps, I. G., Arts, H. H., Keunen, J. E., Ueffing, M., Roepman, R., Boldt, K., Doherty, D., Moens, C. B., Neuhauss, S. C. F., Kremer, H., & van Wijk, E. (2015). The ciliopathy protein CC2D2A Associates with NINL and functions in RAB8-MICAL3-regulated vesicle trafficking PLoS Genetics, 11, e1005575. https://doi.org/10.1371/journal.pgen.1005575
• Bachmann-Gagescu, R., Phelps, I. G., Dempsey, J. C., Sharma, V. A., Ishak, G. E., Boyle, E. A., Wilson, M., Marques Lourenço, C., Arslan, M., Shendure, J., & Doherty, D. (2015). KIAA0586 is mutated in Joubert syndrome Human Mutation, 36, 831–835. https://doi.org/10.1002/humu.22821
• Bachmann-Gagescu, R., Dempsey, J. C., Phelps, I. G., O’Roak, B. J., Knutzen, D. M., Rue, T. C., Ishak, G. E., Isabella, C. R., Gorden, N., Adkins, J., Boyle, E. A., de Lacy, N., O’Day, D., Alswaid, A., Radha Ramadevi, A., Lingappa, L., Lourenço, C., Martorell, L., Garcia-Cazorla, À., … Doherty, D. (2015). Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity Journal of Medical Genetics, 52, 514–522. https://doi.org/10.1136/jmedgenet-2015-103087
• Bachmann-Gagescu, R. (2014). Complexité génétique des ciliopathies et identification de nouveaux gènes Médecine/Sciences, 30, 1011–1023. https://doi.org/10.1051/medsci/20143011016
• Tuz, K., Bachmann-Gagescu, R., O’Day, D. R., Hua, K., Isabella, C. R., Phelps, I. G., Stolarski, A. E., O’Roak, B. J., Dempsey, J. C., Lourenco, C., Alswaid, A., Bönnemann, C. G., Medne, L., Nampoothiri, S., Stark, Z., Leventer, R. J., Topçu, M., Cansu, A., Jagadeesh, S., … Ferland, R. J. (2014). Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy American Journal of Human Genetics, 94, 62–72. https://doi.org/10.1016/j.ajhg.2013.11.019
• Pajarola, S., Bachmann, R., Niedrist, D., & Rauch, A. (2013). Grundlagen der medizinischen Genetik Praxis, 102, 1457–1465. https://doi.org/10.1024/1661-8157/a001487
• Bachmann-Gagescu, R., Ishak, G. E., Dempsey, J. C., Adkins, J., O’Day, D., Phelps, I. G., Gunay-Aygun, M., Kline, A. D., Szczaluba, K., Martorell, L., Alswaid, A., Alrasheed, S., Pai, S., Izatt, L., Ronan, A., Parisi, M. A., Mefford, H., Glass, I., & Doherty, D. (2012). Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures Journal of Medical Genetics, 49, 126–137. https://doi.org/10.1136/jmedgenet-2011-100552
• Bachmann-Gagescu, R., Phelps, I. G., Stearns, G., Link, B. A., Brockerhoff, S. E., Moens, C. B., & Doherty, D. (2011). The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking Human Molecular Genetics, 20, 4041–4055. https://doi.org/10.1093/hmg/ddr332

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