Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families

Por Jones, Kaylie D., Wheaton, Dianna K., Bowne, Sara J., Sullivan, Lori S., Birch, David G., Chen, Rui, Daiger, Stephen P.
Publicado no Mol Vis (2017)

North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene

Por Bowne, Sara J., Sullivan, Lori S., Wheaton, Dianna K., Locke, Kirsten G., Jones, Kaylie D., Koboldt, Daniel C., Fulton, Robert S., Wilson, Richard K., Blanton, Susan H., Birch, David G., Daiger, Stephen P.
Publicado no Mol Vis (2016)

A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

Por Sullivan, Lori S., Bowne, Sara J., Koboldt, Daniel C., Cadena, Elizabeth L., Heckenlively, John R., Branham, Kari E., Wheaton, Dianna H., Jones, Kaylie D., Ruiz, Richard S., Pennesi, Mark E., Yang, Paul, Davis-Boozer, David, Northrup, Hope, Gurevich, Vsevold V., Chen, Rui, Xu, Mingchu, Li, Yumei, Birch, David G., Daiger, Stephen P.
Publicado no Invest Ophthalmol Vis Sci (2017)