Bachmann-Gagescu Group - Publications

ZORA Publication List

Publications

• Phelps, Ian G; Dempsey, Jennifer C; Grout, Megan E; Isabella, Christine R; Tully, Hannah M; Doherty, Dan; Bachmann-Gagescu, Ruxandra (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(2):223-233.
• Ojeda Naharros, Irene; Gesemann, Matthias; Mateos, José María; Barmettler, Gery; Forbes, Austin; Ziegler, Urs; Neuhauss, Stephan C F; Bachmann-Gagescu, Ruxandra (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(12):e1007150.
• Mateos, José María; Barmettler, Gery; Doehner, Jana; Ojeda Naharros, Irene; Guhl, Bruno; Neuhauss, Stephan C F; Kaech, Andres; Bachmann-Gagescu, Ruxandra; Ziegler, Urs (2017). Correlative super-resolution and electron microscopy to resolve protein localization in zebrafish retina Journal of Visualized Experiments, 129:e56113.
• Van De Weghe, Julie C; Rusterholz, Tamara D S; Latour, Brooke; Grout, Megan E; Aldinger, Kimberly A; Shaheen, Ranad; Dempsey, Jennifer C; Maddirevula, Sateesh; Cheng, Yong-Han H; Phelps, Ian G; Gesemann, Matthias; Goel, Himanshu; Birk, Ohad S; Alanzi, Talal; Rawashdeh, Rifaat; Khan, Arif O; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan C F; Dobyns, William B; Alkuraya, Fowzan S; Roepman, Ronald; Bachmann-Gagescu, Ruxandra; Doherty, Dan (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(1):23-36.
• Dempsey, Jennifer C; Phelps, Ian G; Bachmann-Gagescu, Ruxandra; Glass, Ian A; Tully, Hannah M; Doherty, Dan (2017). Mortality in Joubert syndrome American Journal of Medical Genetics. Part A, 173(5):1237-1242.
• Ojeda Naharros, Irene . Modelling ciliopathies in the zebrafish: elucidating the role of CC2D2A and TALPID3 in photoreceptor development and function 2017, University of Zurich, Faculty of Science.
• Dona, Margo; Bachmann-Gagescu, Ruxandra; Texier, Yves; Toedt, Grischa; Hetterschijt, Lisette; Tonnaer, Edith L; Peters, Theo A; van Beersum, Sylvia E C; Bergboer, Judith G M; Horn, Nicola; de Vrieze, Erik; Slijkerman, Ralph W N; van Reeuwijk, Jeroen; Flik, Gert; Keunen, Jan E; Ueffing, Marius; Gibson, Toby J; Roepman, Ronald; Boldt, Karsten; Kremer, Hannie; van Wijk, Erwin (2015). NINL and DZANK1 co-function in vesicle transport and are essential for photoreceptor development in Zebrafish PLoS Genetics, 11(10):e1005574.
• Bachmann-Gagescu, Ruxandra; Dona, Margo; Hetterschijt, Lisette; Tonnaer, Edith; Peters, Theo; de Vrieze, Erik; Mans, Dorus A; van Beersum, Sylvia E C; Phelps, Ian G; Arts, Heleen H; Keunen, Jan E; Ueffing, Marius; Roepman, Ronald; Boldt, Karsten; Doherty, Dan; Moens, Cecilia B; Neuhauss, Stephan C F; Kremer, Hannie; van Wijk, Erwin (2015). The ciliopathy protein CC2D2A Associates with NINL and functions in RAB8-MICAL3-regulated vesicle trafficking PLoS Genetics, 11(10):e1005575.
• Bachmann-Gagescu, Ruxandra; Phelps, Ian G; Dempsey, Jennifer C; Sharma, Vivek A; Ishak, Gisele E; Boyle, Evan A; Wilson, Meredith; Marques Lourenço, Charles; Arslan, Mutluay; Shendure, Jay; Doherty, Dan (2015). KIAA0586 is mutated in Joubert syndrome Human Mutation, 36(9):831-835.
• 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; Ozyürek, H; Haliloğlu, G; Tuysuz, B; Topçu, M; Chance, P; Parisi, M A; Glass, I A; Shendure, J; Doherty, D (2015). Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity Journal of Medical Genetics, 52(8):514-522.
• Bachmann-Gagescu, Ruxandra (2014). Complexité génétique des ciliopathies et identification de nouveaux gènes Médecine/Sciences, 30(11):1011-1023.
• Tuz, Karina; Bachmann-Gagescu, Ruxandra; O'Day, Diana R; Hua, Kiet; Isabella, Christine R; Phelps, Ian G; Stolarski, Allan E; O'Roak, Brian J; Dempsey, Jennifer C; Lourenco, Charles; Alswaid, Abdulrahman; Bönnemann, Carsten G; Medne, Livija; Nampoothiri, Sheela; Stark, Zornitza; Leventer, Richard J; Topçu, Meral; Cansu, Ali; Jagadeesh, Sujatha; Done, Stephen; Ishak, Gisele E; Glass, Ian A; Shendure, Jay; Neuhauss, Stephan C F; Haldeman-Englert, Chad R; Doherty, Dan; Ferland, Russell 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(1):62-72.
• Pajarola, Sandra; Bachmann, Ruxandra; Niedrist, Dunja; Rauch, Anita (2013). Grundlagen der medizinischen Genetik Praxis, 102(24):1457-1465.
• Bachmann-Gagescu, Ruxandra; Ishak, Gisele E; Dempsey, Jennifer C; Adkins, Jonathan; O'Day, Diana; Phelps, Ian G; Gunay-Aygun, Meral; Kline, Antonie D; Szczaluba, Krzysztof; Martorell, Loreto; Alswaid, Abdulrahman; Alrasheed, Shatha; Pai, Shashidhar; Izatt, Louise; Ronan, Anne; Parisi, Melissa A; Mefford, Heather; Glass, Ian; Doherty, Dan (2012). Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures Journal of Medical Genetics, 49(2):126-137.
• Bachmann-Gagescu, Ruxandra; Phelps, Ian G; Stearns, George; Link, Brian A; Brockerhoff, Susan E; Moens, Cecilia B; Doherty, Dan (2011). The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking Human Molecular Genetics, 20(20):4041-4055.
• Bachmann-Gagescu, Ruxandra; Hisama, Fukie Marie; Yuen, Amy Lawson (2011). Myhre syndrome with ataxia and cerebellar atrophy Clinical Dysmorphology, 20(3):156-159.
• Bachmann-Gagescu, Ruxandra; Mefford, Heather C; Cowan, Charles; Glew, Gwen M; Hing, Anne V; Wallace, Stephanie; Bader, Patricia I; Hamati, Aline; Reitnauer, Pamela J; Smith, Rosemarie; Stockton, David W; Muhle, Hiltrud; Helbig, Ingo; Eichler, Evan E; Ballif, Blake C; Rosenfeld, Jill; Tsuchiya, Karen D (2010). Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity Genetics in Medicine, 12(10):641-647.
• Bachmann‐Gagescu, Ruxandra; Merritt II, J Lawrence; Hahn, S H (2009). A cognitively normal PDH‐deficient 18‐year‐old man carrying the R263G mutation in the PDHA1 gene Journal of Inherited Metabolic Disease, 32(S1):123-126.
• Hernandez, Rafael E; Rikhof, Holly A; Bachmann-Gagescu, Ruxandra; Moens, Cecilia B (2004). vhnf1 integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish Development, 131(18):4511-4520.

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