Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.,
Mahajan, Vinit B., Skeie Jessica M., Bassuk Alexander G., Fingert John H., Braun Terry A., Daggett Heather T., Folk James C., Sheffield Val C., and Stone Edwin M.
, PLoS Genet, 2012, Volume 8, Issue 10, p.e1003001, (2012)
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome.,
McIntyre, Rebecca E., Chavali Pavithra Lakshminar, Ismail Ozama, Carragher Damian M., Sanchez-Andrade Gabriela, Forment Josep V., Fu Beiyuan, Velasco-Herrera Martin Del Castil, Edwards Andrew, van der Weyden Louise, et al.
, PLoS Genet, 2012, Volume 8, Issue 11, p.e1003022, (2012)