Ruxandra Bachmann‐Gagescu

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

Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps et al. · Journal of Medical Genetics · 2015 · 297 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Ruxandra Bachmann‐Gagescu, Heather C. Mefford, Charles A. Cowan et al. · Genetics in Medicine · 2010 · 241 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

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

Ruxandra Bachmann‐Gagescu, Ian G. Phelps, George Stearns et al. · Human Molecular Genetics · 2011 · 133 citations · Full text

Medicine, Developmental Biology, Molecular Genetics +17

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

Karina Tuz, Ruxandra Bachmann‐Gagescu, Diana R. O’Day et al. · The American Journal of Human Genetics · 2013 · 113 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

<i>vhnf1</i>integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish

Rafael E. Hernandez, Holly A. Rikhof, Ruxandra Bachmann‐Gagescu et al. · Development · 2004 · 109 citations · Full text

Life Sciences, Developmental Biology, Molecular Biology +17