Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Research Project (R01)
Project #
2R01EY007142-04A5
Application #
2161411
Study Section
Special Emphasis Panel (ZRG1-VISB (01))
Project Start
1989-01-01
Project End
1999-05-31
Budget Start
1996-06-01
Budget End
1997-05-31
Support Year
4
Fiscal Year
1996
Total Cost
Indirect Cost
Name
University of Texas Health Science Center Houston
Department
Genetics
Type
Schools of Public Health
DUNS #
City
Houston
State
TX
Country
United States
Zip Code
77225
Vishnivetskiy, Sergey A; Sullivan, Lori S; Bowne, Sara J et al. (2018) Molecular Defects of the Disease-Causing Human Arrestin-1 C147F Mutant. Invest Ophthalmol Vis Sci 59:13-20
Daiger, Stephen P; Bowne, Sara J; Sullivan, Lori S et al. (2018) Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP). Adv Exp Med Biol 1074:237-245
Chen, Yong; Zhao, Li; Wang, Yi et al. (2017) SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinformatics 18:147
Jones, Kaylie D; Wheaton, Dianna K; Bowne, Sara J et al. (2017) Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. Mol Vis 23:470-481
Sullivan, Lori S; Bowne, Sara J; Koboldt, Daniel C et al. (2017) 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. Invest Ophthalmol Vis Sci 58:2774-2784
Strom, Samuel P; Clark, Michael J; Martinez, Ariadna et al. (2016) De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. PLoS One 11:e0150944
Daiger, Stephen P (2016) Mutations in Linkage Disequilibrium With Putative Disease-Causing Mutations. Invest Ophthalmol Vis Sci 57:4814
Ellingford, Jamie M; Barton, Stephanie; Bhaskar, Sanjeev et al. (2016) Molecular findings from 537 individuals with inherited retinal disease. J Med Genet 53:761-767
Fahim, Abigail T; Daiger, Stephen P (2016) The Role of X-Chromosome Inactivation in Retinal Development and Disease. Adv Exp Med Biol 854:325-31
Shankar, Suma P; Hughbanks-Wheaton, Dianna K; Birch, David G et al. (2016) Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. Invest Ophthalmol Vis Sci 57:349-59

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