Associated Papers
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
Fuster-García C et al.
Scientific Reports, 2018
In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype.
Saleha S et al.
International Journal of Ophthalmology, 2016
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Aparisi MJ et al.
Orphanet Journal of Rare Diseases, 2014
Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.
Aparisi MJ et al.
Plos One, 2013
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.
Jaijo T et al.
Molecular Vision, 2012
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