CV Ruxandra Bachmann-Gagescu
Table of contents
Short CV
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Since July 2017: SNSF Assistant Professor
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2013-2017: SNSF Ambizione Junior Group Leader. Ciliopathy project hosted in the laboratory of Prof Stephan Neuhauss, Zurich, Switzerland.
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2011-2012: Acting Assistant Professor and attending physician in Medical Genetics, Seattle Children’s Hospital / University of Washington Department of Pediatrics, Seattle, USA.
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2008 - 2011: Residency and Research Fellowship Medical Genetics, University of Washington, Seattle, USA.
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2004 - 2007: Residency and Fellowship Pediatrics, Geneva University Hospital, Switzerland.
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2001- 2003: Postdoctoral Research, lab of Dr Cecilia Moens, Fred Hutchinson Cancer Research Center, Seattle, Washington.
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1998 – 2001: Residency Pediatrics, Geneva University Hospital, Switzerland.
Degrees
- 2012: FMH Medical Genetics (Swiss Board Certification)
- 2011: American Board of Medical Genetics
- 2007: FMH Pediatrics (Swiss Board Certification)
- 2001: Medical doctoral Thesis, University of Geneva School of Medicine: Diagnostic prénatal des cardiopathies congénitales par échocardiographie fœtale et leur suivi postnatal à Genève
- 1998: M.D., University of Geneva School of Medicine
All Publications Prof. Bachmann-Gagescu on ZORA
ZORA Publication List
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Publications
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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish American Journal of Human Genetics, 101(1):23-36.
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Mortality in Joubert syndrome American Journal of Medical Genetics. Part A, 173(5):1237-1242.
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NINL and DZANK1 co-function in vesicle transport and are essential for photoreceptor development in Zebrafish PLoS Genetics, 11(10):e1005574.
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The ciliopathy protein CC2D2A Associates with NINL and functions in RAB8-MICAL3-regulated vesicle trafficking PLoS Genetics, 11(10):e1005575.
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KIAA0586 is mutated in Joubert syndrome Human Mutation, 36(9):831-835.
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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity Journal of Medical Genetics, 52(8):514-522.
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Complexité génétique des ciliopathies et identification de nouveaux gènes Médecine/Sciences, 30(11):1011-1023.
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Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy American Journal of Human Genetics, 94(1):62-72.
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Grundlagen der medizinischen Genetik Praxis, 102(24):1457-1465.
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Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures Journal of Medical Genetics, 49(2):126-137.
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The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking Human Molecular Genetics, 20(20):4041-4055.
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vhnf1 integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish Development, 131(18):4511-4520.