Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations

by Fahim, Abigail T., Bowne, Sara J., Sullivan, Lori S., Webb, Kaylie D., Williams, Jessica T., Wheaton, Dianna K., Birch, David G., Daiger, Stephen P.
Published 2011

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers

by Shankar, Suma P., Hughbanks-Wheaton, Dianna K., Birch, David G., Sullivan, Lori S., Conneely, Karen N., Bowne, Sara J., Stone, Edwin M., Daiger, Stephen P.
Published 2016

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa

by Strom, Samuel P., Clark, Michael J., Martinez, Ariadna, Garcia, Sarah, Abelazeem, Amira A., Matynia, Anna, Parikh, Sachin, Sullivan, Lori S., Bowne, Sara J., Daiger, Stephen P., Gorin, Michael B.
Published 2016

Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa

by Bowne, Sara J., Sullivan, Lori S., Avery, Cheryl E., Sasser, Elizabeth M., Roorda, Austin, Duncan, Jacque L., Wheaton, Dianna H., Birch, David G., Branham, Kari E., Heckenlively, John R., Sieving, Paul A., Daiger, Stephen P.
Published 2013

Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

by Ventura, Meredith J., Wheaton, Dianna, Xu, Mingchu, Birch, David, Bowne, Sara J., Sullivan, Lori S., Daiger, Stephen P., Whitney, Annette E., Jones, Richard O., Moser, Ann B., Chen, Rui, Wangler, Michael F.
Published 2016

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

by 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.
Published 2016

Molecular findings from 537 individuals with inherited retinal disease

by Ellingford, Jamie M, Barton, Stephanie, Bhaskar, Sanjeev, O'Sullivan, James, Williams, Simon G, Lamb, Janine A, Panda, Binay, Sergouniotis, Panagiotis I, Gillespie, Rachel L, Daiger, Stephen P, Hall, Georgina, Gale, Theodora, Lloyd, I Christopher, Bishop, Paul N, Ramsden, Simon C, Black, Graeme C M
Published 2016