Ruifang Sui

16PUBLICATIONS

21CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Cancer geneticsDevelopmental genetics (incl. sex determination)Migration historyAutoimmunity

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Publications (16)

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|Aug 06, 2026

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

|Aug 03, 2026

Expanding the ocular and genetic spectrum of FLVCR1-associated disease in a Chinese cohort.

|Feb 24, 2026

Longitudinal and cross-sectional study of retinal phenotypes and visual function in choroideremia carriers: a new grading system.

Xiaoxu Han, Yang Yu, Jiaqi Ding

|Jun 21, 2025

Seventeen-year follow-up of mitochondrial myopathy and ataxia in a Chinese family: case reports and literature review.

Yue Liu, Hui Li, Xing Wei

|Sep 16, 2023

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

Xing Wei, Tian Zhu, Lei Wang

|Aug 16, 2023

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

Huajin Li, Xing Wei, Shijing Wu

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Frequent Collaborators

Qi Zhou

Wei Li

Maéva Langouët

Christine Jolicoeur

Awais Javed

Pierre Mattar

Micah D Gearhart

Stephen P Daiger

Catherine Jespersgaard

1 joint publications

Zixi Sun

Frequent Collaborators

Qi Zhou

Wei Li

Maéva Langouët

Christine Jolicoeur