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We performed a high-content genome-wide small interfering RNA (siRNA) screen to identify genes regulating ciliogenesis as candidates for JS. We analyzed results with a supervised-learning approach, using SYSCILIA gold standard, Cildb3.0, a centriole siRNA screen and the GTex project, identifying 591 likely candidates. Intersection of this data with whole exome results from 145 individuals with unexplained JS identified six families with predominantly compound heterozygous mutations in\n                    <jats:italic>KIAA0586<\/jats:italic>\n                    . A c.428del base deletion in 0.1% of the general population was found in\n                    <jats:italic>trans<\/jats:italic>\n                    with a second mutation in an additional set of 9 of 163 unexplained JS patients.\n                    <jats:italic>KIAA0586<\/jats:italic>\n                    is an orthologue of chick\n                    <jats:italic>Talpid3<\/jats:italic>\n                    , required for ciliogenesis and Sonic hedgehog signaling. Our results uncover a relatively high frequency cause for JS and contribute a list of candidates for future gene discoveries in ciliopathies.\n                  <\/jats:p>","DOI":"10.7554\/elife.06602","type":"journal-article","created":{"date-parts":[[2015,5,30]],"date-time":"2015-05-30T07:38:07Z","timestamp":1432971487000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.06602","source":"Crossref","is-referenced-by-count":77,"title":["Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome"],"prefix":"10.7554","volume":"4","author":[{"given":"Susanne","family":"Roosing","sequence":"first","affiliation":[{"name":"Laboratory for Pediatric Brain Disease, New York Genome Center, Howard Hughes Medical Institute, The Rockefeller University, New York, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matan","family":"Hofree","sequence":"additional","affiliation":[{"name":"Department of Computer Science and Engineering, University 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