Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. - Schmidts M; Frank V; Eisenberger T; Al Turki S; Bizet AA; Antony D; Rix S; Decker C; Bachmann N; Bald M; Vinke T; Toenshoff B; et al. (Human mutation, 2013)