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Journal of Cell Science|October 27, 2025
Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathiesRuxandra Bachmann-Gagescu, John A SayerThe Journal of Pathology|May 17, 2019
A new mouse model for the neurodevelopmental ciliopathy Joubert syndromeRuxandra Bachmann-GagescuMedecine Sciences : M/S|November 13, 2014
[Genetic complexity of ciliopathies and novel genes identification]Ruxandra Bachmann-GagescuCurrent Topics in Developmental Biology|December 3, 2023
Control of protein and lipid composition of photoreceptor outer segments-Implications for retinal diseaseMarkus Masek, Ruxandra Bachmann-GagescuCurrent Opinion in Genetics & Development|July 2, 2019
The photoreceptor cilium and its diseasesRuxandra Bachmann-Gagescu, Stephan Cf NeuhaussFrontiers in Genetics|July 18, 2022
Insights Gained From Zebrafish Models for the Ciliopathy Joubert SyndromeTamara D S Rusterholz, Claudia Hofmann, Ruxandra Bachmann-GagescuJournal of Cell Science|June 22, 2021
Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPasesMagdalena Cardenas-Rodriguez, Christina Austin-Tse, Judith G M Bergboer, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|June 24, 2026
Evolving Roles of Primary Cilia in CNS Development and Neural Circuit Function: From Human Disease to Molecular UnderpinningsAlexandra R Noble, Dan Doherty, Esther Stoeckli, et al.Developmental Biology|December 18, 2024
The primary cilium gene CPLANE1 is required for peripheral nervous system developmentElkhan Yusifov, Martina Schaettin, Alexandre Dumoulin, et al.International Journal of Molecular Sciences|June 27, 2024
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient CohortJordi Maggi, Samuel Koller, Silke Feil, et al.Pageof 25