Guohua Yang

5PUBLICATIONS
4CO-AUTHORS
OptometryGene and molecular therapyGenetic immunologySolid tumoursMedical infection agents (incl. prions)
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Publications (5)

|Aug 13, 2026
From PLP1 Misfolding to Oligodendrocyte Degeneration: A Proteostasis-Centered Framework for Pelizaeus-Merzbacher Disease.

|Jul 18, 2025
Clinic Examination and Gene Diagnosis for a Birt-Hogg-Dubé Syndrome Family With a Novel flcn Frameshift Mutation Causing Nonsense-Mediated mRNA Degradation.

Yang Xu, Jie Gao, Yang An

|Jul 15, 2025
A Novel Intronic Mutation in MBD5 Results in Autosomal Dominant Intellectual Disability Type 1 due to Abnormal Splicing.

Heng Jiang, Jingjing Mou, Qiwei Zhao

|Aug 01, 2020
A novel TSC1 frameshift mutation c.1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense-mediated mRNA degradation (NMD) simultaneously in a Chinese family.

Cong Qiu, Chengyan Li, Xiaoyun Tong

|Jul 26, 2019
Identification and Interaction Analysis of Significant Genes and MicroRNAs in Pterygium.

Siying He, Hui Sun, Yifang Huang

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Frequent Collaborators

1 joint publications

Ming Yan

1 joint publications

Heng Jiang

1 joint publications

Yang Xu

1 joint publications

Xiaobin Li