Bachmann-Gagescu Group - Publications

ZORA Publication List

Publications

• Masek, Markus; Etard, Christelle; Hofmann, Claudia; Hülsmeier, Andreas J; Zang, Jingjing; Takamiya, Masanari; Gesemann, Matthias; Neuhauss, Stephan; Hornemann, Thorsten; Strähle, Uwe; Bachmann-Gagescu, Ruxandra (2021). The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition. ArXiv.org 452166, Cornell University.
• Mytils, Avishag; Kumar, Vineet; Tao, Qiu; Deis, Rachael; Levy, Karine; Masek, Markus; Eitan, Hagai; Nather, Farouq; Shawahny, Amal; Bachmann-Gagescu, Ruxandra; Roy, Sudipto; Elkouby, Yaniv M (2021). Ciliary control of meiotic chromosomal pairing mechanics and germ cell morphogenesis. bioRxiv 430249, Cold Spring Harbor Laboratory.
• Latour, Brooke L; Van De Weghe, Julie C; Rusterholz, Tamara D S; Letteboer, Stef J F; Gomez, Arianna; Shaheen, Ranad; Gesemann, Matthias; Karamzade, Arezou; Asadollahi, Mostafa; Barroso-Gil, Miguel; Chitre, Manali; Grout, Megan E; van Reeuwijk, Jeroen; van Beersum, Sylvia E C; Miller, Caitlin V; Dempsey, Jennifer C; Morsy, Heba; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan C F; Boldt, Karsten; Ueffing, Marius; Keramatipour, Mohammad; Sayer, John A; Alkuraya, Fowzan S; Bachmann-Gagescu, Ruxandra; Roepman, Ronald; Doherty, Dan (2020). Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. Journal of Clinical Investigation, 130(8):4423-4439.
• Latour, Brooke L; Van De Weghe, Julie C; Rusterholz, Tamara D S; Letteboer, Stef J F; Gomez, Arianna; Shaheen, Ranad; Gesemann, Matthias; Karamzade, Arezou; Asadollahi, Mostafa; Barroso-Gil, Miguel; Chitre, Manali; Grout, Megan E; van Reeuwijk, Jeroen; van Beersum, Sylvia E C; Miller, Caitlin V; Dempsey, Jennifer C; Morsy, Heba; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan C F; Boldt, Karsten; Ueffing, Marius; Keramatipour, Mohammad; Sayer, John A; Alkuraya, Fowzan S; Bachmann-Gagescu, Ruxandra; Roepman, Ronald; Doherty, Dan (2020). Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. Journal of Clinical Investigation, 130(8):4423-4439.
• Ansar, Muhammad; Ebstein, Frédéric; Özkoç, Hayriye; Paracha, Sohail A; Iwaszkiewicz, Justyna; Gesemann, Matthias; Zoete, Vincent; Ranza, Emmanuelle; Santoni, Federico A; Sarwar, Muhammad T; Ahmed, Jawad; Krüger, Elke; Bachmann-Gagescu, Ruxandra; Antonarakis, Stylianos E (2020). Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature. Human Molecular Genetics, 29(7):1132-1143.
• Bachmann-Gagescu, Ruxandra; Dempsey, Jennifer C; Bulgheroni, Sara; Chen, Maida L; D'Arrigo, Stefano; Glass, Ian A; Heller, Theo; Héon, Elise; Hildebrandt, Friedhelm; Joshi, Nirmal; Knutzen, Dana; Kroes, Hester Y; Mack, Stephen H; Nuovo, Sara; Parisi, Melissa A; Snow, Joseph; Summers, Angela C; Symons, Jordan M; Zein, Wadih M; Boltshauser, Eugen; Sayer, John A; Gunay-Aygun, Meral; Valente, Enza Maria; Doherty, Dan (2020). Healthcare recommendations for Joubert syndrome. American Journal of Medical Genetics. Part A, 182(1):229-249.
• Begemann, Anaïs; Acuña, Mario A; Zweier, Markus; Vincent, Marie; Steindl, Katharina; Bachmann-Gagescu, Ruxandra; Hackenberg, Annette; Abela, Lucia; Plecko, Barbara; Kroell-Seger, Judith; Baumer, Alessandra; Yamakawa, Kazuhiro; Inoue, Yushi; Asadollahi, Reza; Sticht, Heinrich; Zeilhofer, Hanns Ulrich; Rauch, Anita (2019). Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. Molecular Medicine, 25:6.
• Latour, Brooke L; Van De Weghe, Julie C; Rusterholz, Tamara D S; Letteboer, Stef J F; Gomez, Arianna; Shaheen, Ranad; Gesemann, Matthias; Grout, Megan E; van Reeuwijk, Jeroen; van Beersum, Sylvia E C; Miller, Caitlin V; Dempsey, Jennifer C; Morsy, Heba; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan C F; Boldt, Karsten; Ueffing, Marius; Alkuraya, Fowzan S; Bachmann-Gagescu, Ruxandra; Roepman, Ronald; Doherty, Dan (2019). ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability. bioRxiv 817213, Cold Spring Harbor Laboratory.
• Boonsawat, Paranchai; Joset, Pascal; Steindl, Katharina; Oneda, Beatrice; Gogoll, Laura; Azzarello-Burri, Silvia; Sheth, Frenny; Datar, Chaitanya; Verma, Ishwar C; Puri, Ratna Dua; Zollino, Marcella; Bachmann-Gagescu, Ruxandra; Niedrist, Dunja; Papik, Michael; Figueiro-Silva, Joana; Masood, Rahim; Zweier, Markus; Kraemer, Dennis; Lincoln, Sharyn; Rodan, Lance; Undiagnosed Diseases Network (UDN); et al; Steinfeld, Robert; Plecko, Barbara; Latal, Beatrice; Jenni, Oskar; Asadollahi, Reza; Rauch, Anita (2019). Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21(9):2043-2058.
• Bachmann-Gagescu, Ruxandra (2019). A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome. Journal of Pathology, 248(4):393-395.
• Bachmann-Gagescu, Ruxandra; Neuhauss, Stephan C F (2019). The photoreceptor cilium and its diseases. Current Opinion in Genetics & Development, 56:22-33.
• Hiatt, Susan M; Thompson, Michelle L; Prokop, Jeremy W; Lawlor, James M J; Gray, David E; Bebin, E Martina; Rinne, Tuula; Kempers, Marlies; Pfundt, Rolph; van Bon, Bregje W; Mignot, Cyril; Nava, Caroline; Depienne, Christel; Kalsner, Louisa; Rauch, Anita; Joset, Pascal; Bachmann-Gagescu, Ruxandra; Wentzensen, Ingrid M; McWalter, Kirsty; Cooper, Gregory M (2019). Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. American Journal of Human Genetics, 104(4):701-708.
• Ojeda Naharros, Irene; Cristian, Flavia B; Zang, Jingjing; Gesemann, Matthias; Ingham, Philip W; Neuhauss, Stephan C F; Bachmann-Gagescu, Ruxandra (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.
• Ojeda Naharros, Irene; Cristian, Flavia B; Zang, Jingjing; Gesemann, Matthias; Ingham, Philip W; Neuhauss, Stephan C F; Bachmann-Gagescu, Ruxandra (2018). The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance. Scientific Reports, 8:2211.
• Bachmann-Gagescu, Ruxandra (2018). Génétique médicale: Conséquences du diagnostic ­génétique «next generation». Swiss Medical Forum, 18(1-2):16-18.
• 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.

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