Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

Mackay, D.S., Borman, A.D., Sui, R., van den Born, L.I.I., Berson, E.L., Ocaka, L.A., Davidson, A.E., Heckenlively, J.R., Branham, K., Ren, H., Lopez, I., Maria, M., Azam, M., Henkes, A., Blokland, E., [LCA5 Study Group: Andreasson, S., de Baere, E., Bennett, J., Berger, W., Golovleva, I., Greenberg, J., den Hollander, A.I., Klaver C.W.C., Klevering, B.J., Preising, M., Roberts, L., Roepman, R., Rohrscheider, K., Wissinger, B.], Qamar, R., Webster, A.R., Cremers, F.P.M., Moore, A.T. and Koenekoop, R.K.   Human Mutation, 34:1537-1546 (2013).