A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree

A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis

(2018) Jiewen Fu et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant

(2018) Junting Huang et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Diagnosis for choroideremia in a large Chinese pedigree by next-generation sequencing (NGS) and non-invasive prenatal testing (NIPT)

(2017) Li Zhu et al.   Molecular Medicine Reports

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario

(2017) Muhammad Umar Ali et al.   3 Biotech

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario

(2017) Muhammad Umar Ali et al.   3 Biotech

Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands

(2016) Qi Zhang et al.   Scientific Reports

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

(2013) Feng Wang et al.   HUMAN GENETICS