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authFullName_s : Flora Silbermann
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Dishevelled stablisation at the cilium by RPGRIP1L is essential for planar cell polarity

Sylvie Schneider-Maunoury , Alexia Mahuzier , Hélori-Mael Gaudé , Isabelle Anselme , Flora Silbermann , et al.
First International Cilia in Development and Disease Scientific Conference, pp.O21
Conference papers inserm-00752956v1

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Maxence Macia , Jan Halbritter , Marion Delous , Cecilie Bredrup , Arthur Gutter , et al.
American Journal of Human Genetics, 2017, 100 (2), pp.323-333. ⟨10.1016/j.ajhg.2016.12.011⟩
Journal articles hal-03843928v1
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Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases

Sophie Saunier , Hélori-Mael Gaudé , Rodrick Montjean , Flora Silbermann , Valentina Grampa , et al.
First International Cilia in Development and Disease Scientific Conference, pp.P100
Conference papers inserm-00752963v1
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Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis

Sophie Saunier , Albane A. Bizet , Flora Silbermann , Emilie Filhol , Thierry Blisnick , et al.
First International Cilia in Development and Disease Scientific Conference, May 2012, London, United Kingdom. pp.P99, ⟨10.1186/2046-2530-1-S1-P99⟩
Conference papers inserm-00752970v1

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

Valentina Grampa , Marion Delous , Mohamad Zaidan , Gweltas Odye , Sophie Thomas , et al.
PLoS Genetics, 2016, 12 (3), pp.e1005894. ⟨10.1371/journal.pgen.1005894⟩
Journal articles hal-03843941v1

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Simon Ramsbottom , Peter Thelwall , Katrina Wood , Gavin Clowry , Laura Devlin , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (2), pp.1113-1118. ⟨10.1073/pnas.1912602117⟩
Journal articles hal-03932210v1

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

Camille Humbert , Flora Silbermann , Bharti Morar , Mélanie Parisot , Mohammed Zarhrate , et al.
American Journal of Human Genetics, 2014, 94 (2), pp.288-294. ⟨10.1016/j.ajhg.2013.12.017⟩
Journal articles hal-03843981v1
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The renal inflammatory network of nephronophthisis

Marceau Quatredeniers , Frank Bienaimé , Giulia Ferri , Pierre Isnard , Esther Porée , et al.
Human Molecular Genetics, 2022, 31 (13), pp.2121-2136. ⟨10.1093/hmg/ddac014⟩
Journal articles hal-03933124v1