Ruxandra Bachmann-Gagescu - Inst Mol Life Sci, Univ Zurich

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论文共 62 篇作者统计合作学者相似作者

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Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system

Alexandra R Noble,Markus Masek,Claudia Hofmann, Arianna Cuoco,Tamara D.S. Rusterholz, Hayriye Ozkoc, Nadja R. Greter,Nikita Vladimirov,Sepp Kollmorgen,Esther Stoeckli,Ruxandra Bachmann-Gagescu

biorxiv（2024）

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Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunction

Morgane Djebar,Isabelle Anselme,Guillaume Pezeron,Pierre-Luc Bardet,Yasmine Cantaut-Belarif,Alexis Eschstruth, Diego Lopez-Santos, Helene Le Ribeuz,Arnim Jenett,Hanane Khoury,Joelle Veziers, Caroline Parmentier,

biorxiv（2024）

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Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons

Reza Asadollahi,Igor Delvendahl, Rebecca Muff,Ge Tan, Daymé González Rodríguez,Soeren Turan,Martina Russo,Beatrice Oneda,Pascal Joset,Paranchai Boonsawat, Rahim Masood, Martina Mocera,

Human Molecular Geneticsno. 13 (2023): 2192-2204

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Loss-of-function variants inCUL3cause a syndromic neurodevelopmental disorder

Patrick R. Blackburn,Frédéric Ebstein,Tzung-Chien Hsieh,Marialetizia Motta,Francesca Clementina Radio,Johanna C. Herkert,Tuula Rinne,Isabelle Thiffault,Michele Rapp,Mariel Alders,Saskia M. Maas,Bénédicte Gérard,

medRxiv (Cold Spring Harbor Laboratory) (2023)

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Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Patrick R Blackburn,Frédéric Ebstein,Tzung-Chien Hsieh,Marialetizia Motta,Francesca Clementina Radio,Johanna C Herkert,Tuula Rinne,Isabelle Thiffault,Michele Rapp,Mariel Alders,Saskia Maas,Bénédicte Gerard,

medRxiv : the preprint server for health sciences (2023)

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Studying the morphology, composition and function of the photoreceptor primary cilium in zebrafish

Markus Masek,Jingjing Zang,Jose M. Mateos,Marco Garbelli,Urs Ziegler,Stephan C. F. Neuhauss,Ruxandra Bachmann-Gagescu

Methods in Cell Biology（2023）

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Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons

R. Asadollahi,I Delvendahl, R. Muff, G. Tan, D. G. Rodrieguez, S. Turan, M. Russo, B. Oneda, P. Joset, P. Boonsawat, R. Masood, M. Mocera,

HUMAN MOLECULAR GENETICS（2023）

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Evaluating positive and negative predictive values of expanded carrier screening: lessons learned from the ciliopathies

Ella Vintschger,Pascal Joset,Dennis Kraemer,Anita Rauch,Ruxandra Bachmann-Gagescu

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

Susan M. Hiatt,Slavica Trajkova,Matteo Rossi Sebastiano,E. Christopher Partridge,Fatima E. Abidi,Ashlyn Anderson,Muhammad Ansar,Stylianos E. Antonarakis,Azadeh Azadi,Ruxandra Bachmann-Gagescu,Andrea Bartuli,Caroline Benech,

medrxiv（2022）

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Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies

Ella Vintschger,Dennis Kraemer,Pascal Joset,Anselm H. C. Horn,Anita Rauch,Heinrich Sticht,Ruxandra Bachmann-Gagescu

Eur J Hum Genet（2022）

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