Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Mimicking of splicing-related retinitis pigmentosa mutations in C. elegans allow drug screens and identification of disease modifiers.
Kukhtar D et al.
Human Molecular Genetics, 2020
Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.
Gerth-Kahlert C et al.
Investigative Ophthalmology & Visual Science, 2019
Mutations in spliceosomal proteins and retina degeneration.
Růžičková Š et al.
Rna Biology, 2017
Functions and regulation of the Brr2 RNA helicase during splicing.
Absmeier E et al.
Cell Cycle (georgetown, Tex.), 2016
Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.
Bowne SJ et al.
Molecular Vision, 2013
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.
Liu T et al.
Plos One, 2012
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
Benaglio P et al.
Human Mutation, 2011
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