Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant
social and professional consequences. Molecular genetic information is invaluable for an …
social and professional consequences. Molecular genetic information is invaluable for an …
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
X Wang, H Wang, V Sun, HF Tuan, V Keser… - Journal of medical …, 2013 - jmg.bmj.com
Background Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are
inherited retinal diseases that cause early onset severe visual impairment. An accurate …
inherited retinal diseases that cause early onset severe visual impairment. An accurate …
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland
Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by
progressive photoreceptor degeneration. An accurate molecular diagnosis is essential for …
progressive photoreceptor degeneration. An accurate molecular diagnosis is essential for …
[HTML][HTML] Next-generation sequencing–based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa
Q Fu, F Wang, H Wang, F Xu… - … & visual science, 2013 - jov.arvojournals.org
Purpose.: Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease; therefore,
an accurate molecular diagnosis is essential for appropriate disease treatment and family …
an accurate molecular diagnosis is essential for appropriate disease treatment and family …
[HTML][HTML] A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa
Purpose.: Mutations in the same gene can lead to different clinical phenotypes. In this study,
we aim to identify novel genotype–phenotype correlations and novel disease genes by …
we aim to identify novel genotype–phenotype correlations and novel disease genes by …
Ku DNA End-Binding Activity Promotes Repair Fidelity and Influences End-Processing During Nonhomologous End-Joining in Saccharomyces cerevisiae
CH Emerson, CR Lopez, A Ribes-Zamora, EJ Polleys… - Genetics, 2018 - academic.oup.com
The Ku heterodimer acts centrally in nonhomologous end-joining (NHEJ) of DNA double-
strand breaks (DSB). Saccharomyces cerevisiae Ku, like mammalian Ku, binds and recruits …
strand breaks (DSB). Saccharomyces cerevisiae Ku, like mammalian Ku, binds and recruits …
Systematic Analysis of Non-Protein Coding Sequence Variation Reveals Putative Pathogenic Mutations Causing Inherited Human Retinal Disease
Z Soens, JE Zaneveld, V Gelowani… - … & Visual Science, 2014 - iovs.arvojournals.org
Purpose Currently the identification of human disease-causing mutations has been largely
limited to protein coding regions due to our limited knowledge of the rest of the genome. The …
limited to protein coding regions due to our limited knowledge of the rest of the genome. The …