Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.
AlEissa MM et al.
Genes, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Lrpap1 deficiency leads to myopia through TGF-β-induced apoptosis in zebrafish.
Liu S et al.
Cell Communication and Signaling : Ccs, 2022
Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
Khan AO et al.
Molecular Genetics & Genomic Medicine, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients.
Cai XB et al.
Investigative Ophthalmology & Visual Science, 2019
Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients.
Feng CY et al.
Scientific Reports, 2017
Mutations in LRPAP1 are associated with severe myopia in humans.
Aldahmesh MA et al.
American Journal of Human Genetics, 2013
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