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List of works by Ruxandra Bachmann-Gagescu

A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome

scientific article published on 17 June 2019

Basic aspects of medical genetics

scientific article

Biliary Atresia and Orthotopic Liver Transplantation - 11 Years of Experience in Geneva ⬇️

scientific article published on January 1, 2001

Correlative Super-resolution and Electron Microscopy to Resolve Protein Localization in Zebrafish Retina.

scientific article published on 10 November 2017

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

scientific article published in February 2012

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity

scientific article

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

scientific article published on 19 June 2015

KIAA0586 is Mutated in Joubert Syndrome

scientific article

Live imaging of Rab8 trafficking defects in cc2d2a mutant zebrafish.

scientific article published on 16 November 2012

Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition

scientific article published on 11 March 2022

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.

scientific article

Mortality in Joubert syndrome.

scientific article published on 28 March 2017

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

scientific article published on 14 June 2017

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

scientific article

Myhre syndrome with ataxia and cerebellar atrophy

scientific article published in July 2011

NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish

scientific article

Publisher Correction: The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance

scientific article published in Scientific Reports

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

scientific article published in October 2010

Selective hepatic artery ligation for hepatic haemangioendothelioma: case report and review of the literature.

scientific article

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

scientific article published on 20 October 2015

The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking

scientific article

The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance.

scientific article

[Genetic complexity of ciliopathies and novel genes identification]

scientific article published on 10 November 2014

vhnf1 integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish.

scientific article published in September 2004

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