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Heeringa, S F; Chernin, G; Chaki, M; Zhou, W; Sloan, A J; Ji, Z; Xie, L X; Salviati, L; Hurd, T W; Vega-Warner, V; Killen, P D; Raphael, Y; Ashraf, S; Ovunc, B; Schoeb, D S; McLaughlin, H M; Airik, R; Vlangos, C N; Gbadegesin, R; Hinkes, B; Saisawat, P; Trevisson, E; Doimo, M; Casarin, A; Pertegato, V; Giorgi, G; Prokisch, H; Rötig, A; Nürnberg, G; Becker, C; Wang, S; Ozaltin, F; Topaloglu, R; Bakkaloglu, A; Bakkaloglu, S A; Müller, D; Beissert, A; Mir, S; Berdeli, A; Varpizen, S; Zenker, M; Matejas, V; Santos-Ocaña, C; Navas, P; Kusakabe, T; Kispert, A; Akman, S; Soliman, N A; Krick, S; Mundel, P; Reiser, J; Nürnberg, P; Clarke, C F; Wiggins, R C; Faul, C; Hildebrandt, F (2011). COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. Journal of Clinical Investigation, 121(5):2013-2024.

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.

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