CV Ruxandra Bachmann-Gagescu (Auf Englisch)
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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The primary cilium gene CPLANE1 is required for peripheral nervous system development. Developmental Biology, 519:106-121.
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Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder. Annals of Neurology, 97(1):76-89.
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Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system. Biology Open, 13(11):bio060421.
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Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes. International Journal of Molecular Sciences, 25(17):9569.
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Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort. International Journal of Molecular Sciences, 25(6540):6540.
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Monogenic Disease Variants in the Swiss Kidney Stone Cohort and Stone-Free Controls: TH-PO460. Journal of the American Society of Nephrology (JASN), 34(11S):218.
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Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies. European Journal of Human Genetics, 31(8):953-961.
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Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. Human Molecular Genetics, 32(13):2192-2204.
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Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. medRxiv 23290941, Cold Spring Harbor Laboratory.
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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. American Journal of Human Genetics, 110(2):215-227.
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Control of protein and lipid composition of photoreceptor outer segments—Implications for retinal disease. In: Iomini, Carlo; Sun, Yang. Cilia Signaling in Development and Disease (1. Auflage). Amsterdam: Elsevier, 165-225.
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Studying the morphology, composition and function of the photoreceptor primary cilium in zebrafish. Methods in Cell Biology, 175:97-128.
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Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition. Nature Communications, 13:1282.
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Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype. medRxiv 22279724, Cold Spring Harbor Laboratory.
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Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome. Frontiers in Genetics, 13:939527.
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Genetic compensation for cilia defects in cep290/NPHP6 mutants by upregulation of cilia-associated small GTPases. Journal of Cell Science, 134(14):jcs258568.
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The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition. ArXiv.org 452166, Cornell University.
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Ciliary control of meiotic chromosomal pairing mechanics and germ cell morphogenesis. bioRxiv 430249, Cold Spring Harbor Laboratory.