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Ciliopathies Exome Sequencing Initiative

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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