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RB

Ruxandra Bachmann-Gagescu

Medical Genetics / Clinical Genetics (M.D.)

Credentials: · ·

History

Pediatrics
2007–2010
Medical School
2003–2007

Research

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
Journal of Medical Genetics · 2015 · First of 29 authors · 238 citations
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity
Genetics in Medicine · 2010 · First of 17 authors · 150 citations
The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking
Human Molecular Genetics · 2011 · First of 7 authors · Corresponding · 101 citations

Daniel Doherty
11 papers
Ian Glass
5 papers
Gisele Ishak
4 papers
Anna Hurst
2 papers
Carlos Bacino
2 papers
CF
Colleen Forsyth
2 papers
FA
Fowzan Alkuraya
2 papers
Hannah Tully
2 papers
Heather Mefford
2 papers
John Younce
2 papers
Lance Rodan
2 papers
Linda Hasadsri
2 papers