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 2017

Living With Frontotemporal Degeneration: Diagnostic Journey, Symptom Experiences, and Disease Impact

por Barker, Megan S., Dodge, Shana G., Niehoff, Debra, Denny, Sharon, Dacks, Penny A., Dickinson, Susan, Cosentino, Stephanie, Wheaton, Dianna K.H.
Publicado 2022

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa

por Bowne, Sara J., Sullivan, Lori. S., Gire, Anisa I., Birch, David G., Hughbanks-Wheaton, Dianna, Heckenlively, John R., Daiger, Stephen P.
Publicado 2008

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

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

por 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.
Publicado 2016

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 2016

Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

por 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.
Publicado 2016

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

por 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.
Publicado 2013

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 2017