Associated Papers
Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders.
Han C et al.
Bmc Medical Genomics, 2026
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1
Reliability of clinical impressions and optimal genetic diagnostic strategies of heritable connective tissue disorders with ocular involvement in a large Chinese cohort.
Shu QM et al.
Human Genomics, 2025
Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.
Wang DD et al.
Bmc Medical Genetics, 2020
32039712 (PubMed )
Supplement: 12881_2020_963_MOESM1_ESM.xlsx › Sheet1
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.
Richards AJ et al.
Human Mutation, 2007
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