Associated Papers
Novel Genotype-Phenotype Correlations in CRB1-Retinopathies: Insights from Isoforms and Protein Domains Linked to Disease Severity.
Rodriguez-Martinez AC et al.
Ophthalmology Science, 2026
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Genomic landscape of platinum resistant and sensitive testicular cancers.
Loveday C et al.
Nature Communications, 2020
32366847 (PubMed )
Supplement: 41467_2020_15768_MOESM5_ESM.xlsx › Supplementary_Data_2
Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
Guo X et al.
Molecular Medicine Reports, 2019
Retinal capillaritis in a CRB1-associated retinal dystrophy.
Murro V et al.
Ophthalmic Genetics, 2017
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H et al.
Investigative Ophthalmology & Visual Science, 2015
Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.
Li S et al.
International Journal of Molecular Medicine, 2014
Inherited retinal disease-associated uveitis.
Hung JH et al.
Survey of Ophthalmology, 0
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