Cecilia Gascue

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome

Norann A. Zaghloul, Yangjian Liu, Jantje M. Gerdes et al. · Proceedings of the National Academy of Sciences · 2010 · 116 citations

Genetics, Genetic Epidemiology, Immunology +21

Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation

Cecilia Gascue, Perciliz L. Tan, Magdalena Cárdenas-Rodríguez et al. · Journal of Cell Science · 2012 · 60 citations · Full text

Epistasis between <i>RET</i> and <i>BBS</i> mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Loïc de Pontual, Norann A. Zaghloul, Sophie Thomas et al. · Proceedings of the National Academy of Sciences · 2009 · 54 citations · Full text

Genetics, Genetic Epidemiology, Molecular Genetics +16

The Bardet–Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex

Magdalena Cárdenas-Rodríguez, Florencia Irigoı́n, Daniel P. S. Osborn et al. · Human Molecular Genetics · 2013 · 34 citations · Full text

Prevalence of vitamin D receptor gene polymorphism in a Uruguayan population and its relation to type 1 diabetes mellitus.

Adriana Mimbacas, Jennifer Trujillo, Cecilia Gascue et al. · PubMed · 2007 · 34 citations

Metabolic Syndrome, Type 1, Genetic Determinant +14