Associated Papers
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM et al.
Genes, 2022
36011334 (PubMed )
Supplement: genes-13-01423-s001.zip › genes-1827009-supplementary.pdf
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Toms M et al.
Human Molecular Genetics, 2020
Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole‑exome sequencing.
Fu YC et al.
Molecular Medicine Reports, 2018
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
Lenassi E et al.
European Journal of Human Genetics : Ejhg, 2015
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