Author

Hua Wan

Sichuan UniversityORCID 0000-0003-2946-5613Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Fengxiao BuiD· 1 shared Huijun YuaniD· 1 shared Jing ChengiD· 1 shared Lanchen Wang· 1 shared Libo LiuiD· 1 shared Meilin CheniD· 1 shared Mingjun Zhong· 1 shared Wenyu XiongiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Fengxiao BuORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 18, 2024

Frameshift variants in TBX2 underlie autosomal-dominant hearing loss with incomplete penetrance of nystagmus

Hua Wan, Yanfei Wang, Xiang Li…·Huijun Yuan

The paper identifies TBX2 frameshift variants as the cause of autosomal-dominant hearing loss with incomplete nystagmus penetrance, validated through linkage analysis, sequencing, and mouse models.

2 citations

humanwhole-genome sequencing

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