Bachmann-Gagescu Group - Publications

ZORA Publication List

Publications

• Noble, Alexandra R; Masek, Markus; Hofmann, Claudia; Cuoco, Arianna; Rusterholz, Tamara D S; Özkoc, Hayriye; Greter, Nadja R; Phelps, Ian G; Vladimirov, Nikita; Kollmorgen, Sepp; Stoeckli, Esther; Bachmann-Gagescu, Ruxandra (2024). Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system. Biology Open, 13(11):bio060421.
• Djebar, Morgane; Anselme, Isabelle; Pezeron, Guillaume; Bardet, Pierre-Luc; Cantaut-Belarif, Yasmine; Eschstruth, Alexis; López-Santos, Diego; Le Ribeuz, Hélène; Jenett, Arnim; Khoury, Hanane; Véziers, Joelle; Parmentier, Caroline; Hirschler, Aurélie; Carapito, Christine; Bachmann-Gagescu, Ruxandra; Schneider-Maunoury, Sylvie; Vesque, Christine (2024). Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunction. eLife, 13:RP96831.
• Blackburn, Patrick R; Ebstein, Frédéric; Hsieh, Tzung‐Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gérard, Bénédicte; Smol, Thomas; Vincent‐Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne‐Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S; Rosenfeld, Jill A; Faivre, Laurence; Mau‐Them, Frederic Tran; et al (2024). Loss‐of‐Function Variants in $CUL3$ Cause a Syndromic Neurodevelopmental Disorder. Annals of Neurology:Epub ahead of print.
• Maggi, Jordi; Feil, Silke; Gloggnitzer, Jiradet; Maggi, Kevin; Bachmann-Gagescu, Ruxandra; Gerth-Kahlert, Christina; Koller, Samuel; Berger, Wolfgang (2024). Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes. International Journal of Molecular Sciences, 25(17):9569.
• Yusifov, Elkhan. Primary Cilia are Important for Neural Circuit Formation in the Peripheral Nervous System. 2024, University of Zurich, Mathematisch-naturwissenschaftliche Fakultät.
• Maggi, Jordi; Koller, Samuel; Feil, Silke; Bachmann-Gagescu, Ruxandra; Gerth-Kahlert, Christina; Berger, Wolfgang (2024). Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort. International Journal of Molecular Sciences, 25(6540):6540.
• Djebar, Morgane; Anselme, Isabelle; Pezeron, Guillaume; Bardet, Pierre-Luc; Cantaut-Belarif, Yasmine; Eschstruth, Alexis; López Santos, Diego; Le Ribeuz, Hélène; Jenett, Arnim; Khoury, Hanane; Véziers, Joelle; Parmentier, Caroline; Hirschler, Aurélie; Carapito, Christine; Bachmann-Gagescu, Ruxandra; Schneider-Maunoury, Sylvie; Vesque, Christine (2024). Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction. eLife:Epub ahead of print.
• Münch, Johannes; Silva, Joana F; Cabello, Elena María; Rubio-Aliaga, Isabel; Fuster, Daniel G; Buchkremer, Florian; Wuerzner, Gregoire; Ritter, Alexander; Roth, Beat; Bonny, Olivier; Wagner, Carsten Alexander; Bachmann-Gagescu, Ruxandra (2023). Monogenic Disease Variants in the Swiss Kidney Stone Cohort and Stone-Free Controls: TH-PO460. Journal of the American Society of Nephrology (JASN), 34(11S):218.
• Vintschger, Ella; Kraemer, Dennis; Joset, Pascal; Horn, Anselm H C; Rauch, Anita; Sticht, Heinrich; Bachmann-Gagescu, Ruxandra (2023). Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies. European Journal of Human Genetics, 31(8):953-961.
• Asadollahi, Reza; Delvendahl, Igor; Muff, Rebecca; Tan, Ge; Rodríguez, Daymé González; Turan, Soeren; Russo, Martina; Oneda, Beatrice; Joset, Pascal; Boonsawat, Paranchai; Masood, Rahim; Mocera, Martina; Ivanovski, Ivan; Baumer Wolz, Alessandra; Bachmann-Gagescu, Ruxandra; Schlapbach, Ralph; Rehrauer, Hubert; Steindl, Katharina; Begemann, Anaïs; Reis, André; Winkler, Jürgen; Winner, Beate; Müller, Martin; Rauch, Anita (2023). Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. Human Molecular Genetics, 32(13):2192-2204.
• Blackburn, Patrick R; Ebstein, Frédéric; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gérard, Bénédicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S; Rosenfeld, Jill A; Faivre, Laurence; Mau-Them, Frederic Tran; et al (2023). Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. medRxiv 23290941, Cold Spring Harbor Laboratory.
• Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; et al; Bachmann-Gagescu, Ruxandra; Rauch, Anita (2023). Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. American Journal of Human Genetics, 110(2):215-227.
• Masek, Markus; Bachmann-Gagescu, Ruxandra (2023). Control of protein and lipid composition of photoreceptor outer segments—Implications for retinal disease. In: Iomini, Carlo; Sun, Yang. Cilia Signaling in Development and Disease (1. Auflage). Amsterdam: Elsevier, 165-225.
• Masek, Markus; Zang, Jingjing; Mateos, José María; Garbelli, Marco; Ziegler, Urs; Neuhauss, Stephan C F; Bachmann-Gagescu, Ruxandra (2023). Studying the morphology, composition and function of the photoreceptor primary cilium in zebrafish. Methods in Cell Biology, 175:97-128.
• Masek, Markus; Etard, Christelle; Hofmann, Claudia; Hülsmeier, Andreas J; Zang, Jingjing; Takamiya, Masanari; Gesemann, Matthias; Neuhauss, Stephan C F; Hornemann, Thorsten; Strähle, Uwe; Bachmann-Gagescu, Ruxandra (2022). Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition. Nature Communications, 13:1282.
• Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; et al; Bachmann-Gagescu, Ruxandra; Rauch, Anita (2022). Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype. medRxiv 22279724, Cold Spring Harbor Laboratory.
• Rusterholz, Tamara D S; Hofmann, Claudia; Bachmann-Gagescu, Ruxandra (2022). Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome. Frontiers in Genetics, 13:939527.
• Mytlis, Avishag; Kumar, Vineet; Qiu, Tao; Deis, Rachael; Hart, Neta; Levy, Karine; Masek, Markus; Shawahny, Amal; Ahmad, Adam; Eitan, Hagai; Nather, Farouq; Adar-Levor, Shai; Birnbaum, Ramon Y; Elia, Natalie; Bachmann-Gagescu, Ruxandra; Roy, Sudipto; Elkouby, Yaniv M (2022). Control of meiotic chromosomal bouquet and germ cell morphogenesis by the zygotene cilium. Science, 376:6599.
• Cardenas-Rodriguez, Magdalena; Austin-Tse, Christina; Bergboer, Judith G M; Molinari, Elisa; Sugano, Yuya; Bachmann-Gagescu, Ruxandra; Sayer, John A; Drummond, Iain A (2021). Genetic compensation for cilia defects in cep290/NPHP6 mutants by upregulation of cilia-associated small GTPases. Journal of Cell Science, 134(14):jcs258568.
• 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.

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