Associated Papers
Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics.
Narasimhan I et al.
European Journal of Ophthalmology, 2021
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
de Bruijn SE et al.
American Journal of Human Genetics, 2020
33022222 (PubMed )
Supplement: mmc1.pdf
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
Bravo-Gil N et al.
Scientific Reports, 2016
Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.
Tian Y et al.
Current Eye Research, 2010
Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV.
Datta R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.
Alvarez BV et al.
Investigative Ophthalmology & Visual Science, 2007
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