Greenlees, R., Mihelec, M., Yousoof, S., Speidel, D., Wu, S.K., Rinkwitz, S., Prokudin, I., Perveen, R., Cheng, A., Ma, A., Nash, B., Gillespie, R., Loebel, D.A., Clayton-Smith, J., Lloyd, I.C., Grigg, J.R., Tam, P.P., Yap, A.S., Becker, T.S., Black, G.C., Semina, E., Jamieson, R.V. (2015) Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. Human molecular genetics. 24(20):5789-804