Ruifang Sui

variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.

Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR.

Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2.

Novel variants in PNPLA6 causing syndromic retinal dystrophy.

Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort.

Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.

Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations.

Correction to: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.

Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants.

A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy.

Targeted lipidomics reveals plasmalogen phosphatidylethanolamines and storage triacylglycerols as the major systemic lipid aberrations in Bietti crystalline corneoretinal dystrophy.

Generation of a human induced pluripotent stem cell line (PUMCHi018-A) from an early-onset severe retinal dystrophy patient with RDH12 mutations.

Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation.

Generation of a human induced pluripotent stem cell line PUMCHi019-A from a dominant optic atrophy patient with an OPA1 mutation.

Genetic analysis and clinical features of three Chinese patients with Oguchi disease.

Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.

Letter to the editor regarding "A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy".

FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum.

Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.

Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1.