Targeted parallel-sequencing of linkage intervals or small groups of genes led to the identification of mutations in the renal ciliopathy genes B9D1 associated with Meckel–Gruber syndrome [39] and TMEM237 associated with Joubert syndrome [40], while larger-scale ciliopathy candidate exome (ciliome) sequencing led to the detection of mutations in SDCCAG8 [41] and IFT140 [42]. The gene discussed is IFT140; the disease is ciliopathy.