Sara J. Bowne
The University of Texas Health Science Center at Houston(US)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, Advanced biosensing and bioanalysis techniques, RNA regulation and disease, Connexins and lens biology
Most-Cited Works
- → Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies(2000)331 cited
- → Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis(2000)289 cited
- → Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families(2006)286 cited
- → Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements(2013)237 cited
- → Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa(1999)174 cited
- → Spectrum and Frequency of Mutations in IMPDH1 Associated with Autosomal Dominant Retinitis Pigmentosa and Leber Congenital Amaurosis(2005)165 cited
- → Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa(2014)157 cited
- → Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs(2009)157 cited
- → A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement(2011)153 cited
- → A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa(2010)129 cited