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Valente, E M; Logan, C V; Mougou-Zerelli, S; Lee, J H; Silhavy, J L; Brancati, F; Iannicelli, M; Travaglini, L; Romani, S; Illi, B; Adams, M; Szymanska, K; Mazzotta, A; Lee, J E; Tolentino, J C; Swistun, D; Salpietro, C D; Fede, C; Gabriel, S; Russ, C; Cibulskis, K; Sougnez, C; Hildebrandt, F; Otto, E A; Held, S; Diplas, B H; Davis, E E; Mikula, M; Strom, C M; Ben-Zeev, B; Lev, D; Sagie, T L; Michelson, M; Yaron, Y; Krause, A; Boltshauser, E; Elkhartoufi, N; Roume, J; Shalev, S; Munnich, A; Saunier, S; Inglehearn, C; Saad, A; Alkindy, A; Thomas, S; Vekemans, M; Dallapiccola, B; Katsanis, N; Johnson, C A; Attié-Bitach, T; Gleeson, J G (2010). Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature Genetics, 42(7):619-625.