RuxandraBachmann-GagescuMD
Medical Genetics • Seattle, WAClinical Genetics
Assistant Professor, Pediatrics, University of Washington School of Medicine
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Office
NE Pacific St
# 35772
Seattle, WA 98195Phone+1 206-543-4259
Education & Training
University of WashingtonResidency, Medical Genetics and Genomics, 2008 - 2010
University of Geneva Faculty of MedicineClass of 1998
Certifications & Licensure
WA State Medical License Active through 2013- American Board of Medical Genetics and Genomics Clinical Genetics
Publications & Presentations
PubMed
- 57 citationsKIAA0586 is Mutated in Joubert SyndromeRuxandra Bachmann-Gagescu, Ian G. Phelps, Jennifer C. Dempsey, Vivek A. Sharma, Gisele E. Ishak
Human Mutation. 2015-09-01 - 196 citationsJoubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.Ruxandra Bachmann-Gagescu, Jennifer C. Dempsey, Ian G. Phelps, Brian J. O'Roak, Dana M. Knutzen
Journal of Medical Genetics. 2015-06-19 - 60 citationsThe Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, E.L.G.M. Tonnaer, Theo A. Peters
Plos Genetics. 2015-10-20
Other Languages
- French, German, Romanian
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