CV Ruxandra Bachmann-Gagescu (Auf Englisch)

ZORA Publikationsliste

Publikationen

• 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
• 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
• Hernandez, R. E., Rikhof, H. A., Bachmann-Gagescu, R., & Moens, C. B. (2004). vhnf1 integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish Development, 131, 4511–4520. https://doi.org/10.1242/dev.01297

Seitennummerierung