Ruifang Sui

Chinese Academy of Medical Sciences & Peking Union Medical College — China

Biochemistry, Genetics and Molecular Biology · Life Sciences

27h-index3.2kcitations187works2.62yr avg
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Research Topics

Retinal Development and Disorders(100), Retinal Diseases and Treatments(52), Glaucoma and retinal disorders(22), Retinal and Optic Conditions(13), Photoreceptor and optogenetics research(12)

Publications187 total

Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up
Documenta Ophthalmologica·2026
Detailed Comparison Between Two Main Phenotypes of <i>CRB1-</i> Related Retinal Dystrophy, Pan-retinopathy and Maculopathy
Investigative Ophthalmology & Visual Science·2025· 1 citedOpen Access
Ocular Manifestations of ROSAH Syndrome Caused by Different Mutations of the ALPK1 Gene
American Journal of Ophthalmology·2025· 1 cited
Exon Skipping Therapy Restores Ciliary Function in <i>USH2A</i>-Related Retinal Degeneration
Investigative Ophthalmology & Visual Science·2025Open Access
Seventeen-year follow-up of mitochondrial myopathy and ataxia in a Chinese family: case reports and literature review
Documenta Ophthalmologica·2025· 1 cited
[Advances in the molecular genetics of occult macular dystrophy].
PubMed·2025
A Novel AAV Capsid-Mediated <i>RS1</i> Gene Therapy Restored Retinal Function to Wild-Type Levels in <i>Rs1</i><sup>R213W</sup> Mouse Model
Investigative Ophthalmology & Visual Science·2025· 1 citedOpen Access
Longitudinal analysis of retinal cell state transitions in <i>RB1</i> -deficient retinal organoids reveals the nascent cone precursors are the earliest cell-origin of human retinoblastoma
2025Open Access
Identification of Ferroptosis- and Hypoxia-related Genes in iPSC-derived Oligodendrocyte Precursor Cells from Multiple Sclerosis Patients
Journal of Visualized Experiments·2025
Expert consensus on clinical genome sequencing interpretation and reporting.
PubMed·2025
Transcriptomics and proteomics provide insights into the adaptative strategies of Tibetan naked carps (Gymnocypris przewalskii) to saline-alkaline variations
BMC Genomics·2025· 7 citedOpen Access
TransUTD: Underwater Cross-Domain Collaborative Spatial-Temporal Transformer Detector
SSRN Electronic Journal·2025Open Access
Practice Patterns and Challenges in Managing Inherited Retinal Diseases Across Asia-Pacific: A Survey from the APIED Network
Asia-Pacific Journal of Ophthalmology·2024· 5 citedOpen Access
Longitudinal Natural History Study of Visual Function in Bietti Crystalline Dystrophy: Implications for Early Intervention
Investigative Ophthalmology & Visual Science·2024· 6 citedOpen Access
Comparative analysis of <i>in-silico</i> tools in identifying pathogenic variants in dominant inherited retinal diseases
Human Molecular Genetics·2024· 10 citedOpen Access
New-onset hypertension as a contributing factor to the incidence of atrial fibrillation in the elderly
Hypertension Research·2024· 4 cited
Genotype–Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator
Investigative Ophthalmology & Visual Science·2024· 5 citedOpen Access
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4
Investigative Ophthalmology & Visual Science·2024· 5 citedOpen Access
Rationale and protocol paper for the Asia Pacific Network for inherited eye diseases
Asia-Pacific Journal of Ophthalmology·2024· 4 citedOpen Access
[Advances on gene therapy for USH2A exon 13 related inherited retinal dystrophy].
PubMed·2023
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Frequent Co-authors

Rui Chen(15), Lizhu Yang(12), Zixi Sun(12), Yumei Li(11), Xuan Zou(11), Mingchu Xu(11), Huajin Li(11), Hui Li(10), Shijing Wu(10), Fangtian Dong(8), Keqing Wang(7), Fei Xu(6), Zhisheng Yuan(6), Xia Wang(5), Irma López(5), Qing Fu(5), Robert K. Koenekoop(5), Li Zhao(5), Xiaofang Liang(5), Jialiang Zhao(4)