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1. Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.

2. A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.

3. Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

4. Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).

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