Studies
Ciliopathies Exome Sequencing Initiative
Ciliopathies Exome Sequencing Initiative
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Overview
Selected Publications (3)
SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Vincent Cantagrel, D. Lefeber, B. Ng, et al.. (2010). Cell. Cited 277 times.
https://doi.org/10.1016/j.cell.2010.06.001
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
E. Valente, C. Logan, S. Mougou-Zerelli, et al.. (2010). Nature genetics. Cited 277 times.
https://doi.org/10.1038/ng.594
Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies
S. Bielas, J. Silhavy, F. Brancati, et al.. (2009). Nature genetics. Cited 266 times.
https://doi.org/10.1038/ng.423
