Nature Genetics, 49, 2, pp. 238-248 Nature genetics Shaw, N D, Brand, H, Kupchinsky, Z A, Bengani, H, Plummer, L, Jones, T I, Erdin, S, Williamson, K A, Rainger, J, Stortchevoi, A, Samocha, K, Currall, B B, Dunican, D S, Collins, R L, Willer, J R, Lek, A, Lek, M, Nassan, M, Pereira, S, Kammin, T, Lucente, D, Silva, A, Seabra, C M, Chiang, C, An, Y, Ansari, M, Rainger, J K, Joss, S, Smith, J C, Lippincott, M F, Singh, S S, Patel, N, Jing, J W, Law, J R, Ferraro, N, Verloes, A, Rauch, A, Steindl, K, Zweier, M, Scheer, I, Sato, D, Okamoto, N, Jacobsen, C, Tryggestad, J, Chernausek, S, Schimmenti, L A, Brasseur, B, Cesaretti, C, García-Ortiz, J E, Buitrago, T P, Silva, O P, Hoffman, J D, Mühlbauer, W, Ruprecht, K W, Loeys, B L, Shino, M, Kaindl, A M, Cho, C-H, Morton, C C, Meehan, R R, van Heyningen, V, Liao, E C, Balasubramanian, R, Hall, J E, Seminara, S B, Macarthur, D, Moore, S A, Yoshiura, K, Gusella, J F, Marsh, J A, Graham Jr, J M, Lin, A E, Katsanis, N, Jones, P L, Crowley Jr, W F, Davis, E E, FitzPatrick, D R & Talkowski, M E 2017, ' SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ', Nature Genetics, vol. 49, no. 2, pp. 238-248 . https://doi.org/10.1038/ng.3743 Nature Genetics, 49, 238-248 Shaw, N D, Brand, H, Kupchinsky, Z A, Bengani, H, Plummer, L, Jones, T I, Erdin, S, Williamson, K A, Rainger, J, Stortchevoi, A, Samocha, K, Currall, B B, Dunican, D S, Collins, R L, Willer, J R, Lek, A, Lek, M, Nassan, M, Pereira, S, Kammin, T, Lucente, D, Silva, A, Seabra, C M, Chiang, C, An, Y, Ansari, M, Rainger, J K, Joss, S, Smith, J C, Lippincott, M F, Singh, S S, Patel, N, Jing, J W, Law, J R, Ferraro, N, Verloes, A, Rauch, A, Steindl, K, Zweier, M, Scheer, I, Sato, D, Okamoto, N, Jacobsen, C, Tryggestad, J, Chernausek, S, Schimmenti, L A, Brasseur, B, Cesaretti, C, García-Ortiz, J E, Buitrago, T P, Silva, O P, Hoffman, J D, Mühlbauer, W, Ruprecht, K W, Loeys, B L, Shino, M, Kaindl, A M, Cho, C-H, Morton, C C, Meehan, R R, van Heyningen, V, Liao, E C, Balasubramanian, R, Hall, J E, Seminara, S B, Macarthur, D, Moore, S A, Yoshiura, K-I, Gusella, J F, Marsh, J A, Graham, J M, Lin, A E, Katsanis, N, Jones, P L, Crowley, W F, Davis, E E, FitzPatrick, D R & Talkowski, M E 2017, ' SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ', Nature Genetics, vol. 49, no. 2, pp. 238-248 . https://doi.org/10.1038/ng.3743