Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549

Töpf, A., Cox, D., Zaharieva, I.T., Di Leo, V., Sarparanta, J., Jonson, P.H., Sealy, I.M., Smolnikov, A., White, R.J., Vihola, A., Savarese, M., Merteroglu, M., Wali, N., Laricchia, K.M., Venturini, C., Vroling, B., Stenton, S.L., Cummings, B.B., Harris, E., Marini-Bettolo, C., Diaz-Manera, J., Henderson, M., Barresi, R., Duff, J., England, E.M., Patrick, J., Al-Husayni, S., Biancalana, V., Beggs, A.H., Bodi, I., Bommireddipalli, S., Bönnemann, C.G., Cairns, A., Chiew, M.T., Claeys, K.G., Cooper, S.T., Davis, M.R., Donkervoort, S., Erasmus, C.E., Fassad, M.R., Genetti, C.A., Grosmann, C., Jungbluth, H., Kamsteeg, E.J., Lornage, X., Löscher, W.N., Malfatti, E., Manzur, A., Martí, P., Mongini, T.E., Muelas, N., Nishikawa, A., O'Donnell-Luria, A., Ogonuki, N., O'Grady, G.L., O'Heir, E., Paquay, S., Phadke, R., Pletcher, B.A., Romero, N.B., Schouten, M., Shah, S., Smuts, I., Sznajer, Y., Tasca, G., Taylor, R.W., Tuite, A., Van den Bergh, P., VanNoy, G., Voermans, N.C., Wanschitz, J.V., Wraige, E., Yoshimura, K., Oates, E.C., Nakagawa, O., Nishino, I., Laporte, J., Vilchez, J.J., MacArthur, D.G., Sarkozy, A., Cordell, H.J., Udd, B., Busch-Nentwich, E.M., Muntoni, F., Straub, V. (2024) Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature Genetics. 56(3):395-407

Roychaudhury, A., Lee, Y.R., Choi, T.I., Thomas, M.G., Kahn, T.N., Yousaf, H., Skinner, C., Maconachie, G., Crosier, M., Horak, H., Constantinescu, C.S., Kim, T.Y., Lee, K.H., Kyung, J.J., Wang, T., Ku, B., Chodirker, B.N., Hammer, M.F., Gottlob, I., Norton, W.H.J., Gorlei, R., Kim, H.G., Graziano, C., Pippucci, T., Lovino, E., Montanari, F., Severi, G., Toro, C., Boerkoel, C.F., Cha, H.S., Choi, C.Y., Kim, S., Yoon, J.Y., Gilmore, K., Vora, N.L., Davis, E.E., Chudley, A.E., Schwartz, C.E., and Kim, C.H. (2024) SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability. Annals of neurology. 96(5):914-931

White, R.J., Mackay, E., Wilson, S.W., Busch-Nentwich, E.M. (2022) Allele-specific gene expression can underlie altered transcript abundance in zebrafish mutants. eLIFE. 11: