Ruifang Sui

Department of Ophthalmology, Chinese Academy of Medical Sciences and Peking Union Medical College Hospital

Affiliated withChinese Academy of Medical Sciences and Peking Union Medical College Hospital

Research Area

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title	2025

Other Publications

Article	Year
variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa. The British journal of ophthalmology\| PubMed ID: 32675063	2021
Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR. Experimental eye research\| PubMed ID: 32702353	2020
Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2. American journal of ophthalmology\| PubMed ID: 32707201	2021
Novel variants in PNPLA6 causing syndromic retinal dystrophy. Experimental eye research\| PubMed ID: 33141049	2021
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort. Experimental eye research\| PubMed ID: 33301772	2021
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 33531668	2021
Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations. Stem cell research\| PubMed ID: 33857831	2021
Correction to: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 33972723	2021
Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants. Stem cell research\| PubMed ID: 34419747	2021
A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie\| PubMed ID: 34427740	2022
Targeted lipidomics reveals plasmalogen phosphatidylethanolamines and storage triacylglycerols as the major systemic lipid aberrations in Bietti crystalline corneoretinal dystrophy. Journal of genetics and genomics = Yi chuan xue bao\| PubMed ID: 34710622	2022
Generation of a human induced pluripotent stem cell line (PUMCHi018-A) from an early-onset severe retinal dystrophy patient with RDH12 mutations. Stem cell research\| PubMed ID: 35016144	2022
Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation. Stem cell research\| PubMed ID: 35032821	2022
Generation of a human induced pluripotent stem cell line PUMCHi019-A from a dominant optic atrophy patient with an OPA1 mutation. Stem cell research\| PubMed ID: 35152176	2022
Genetic analysis and clinical features of three Chinese patients with Oguchi disease. Documenta ophthalmologica. Advances in ophthalmology\| PubMed ID: 36417138	2023
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene. American journal of ophthalmology\| PubMed ID: 36493848	2023
Letter to the editor regarding "A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy". Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie\| PubMed ID: 36795159	2023
FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum. Experimental eye research\| PubMed ID: 37481223	2023
Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie\| PubMed ID: 37584790	2024
Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1. Documenta ophthalmologica. Advances in ophthalmology\| PubMed ID: 37715919	2023