Huishuang Chen

发表

A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis

S. Banerjee, Shengran Liang, Xipeng Zhang, 2016, Oncotarget.

A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level

Wei Li, Zhiyu Peng, S. Banerjee, 2018, BioMed research international.

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa

Asan, X. Yi, Xiuqing Zhang, 2018, PloS one.

Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2

S. Banerjee, Zhiyun Yang, Yang Li, 2016, Oncotarget.

Identification of A Novel SBF2 Frameshift Mutation in Charcot–Marie–Tooth Disease Type 4B2 Using Whole-exome Sequencing

Yanhua Chen, Hui Huang, Meiyan Chen, 2014, Genom. Proteom. Bioinform..

A novel gene ZNF862 causes hereditary gingival fibromatosis

Juan Wu, Weibin Sun, Hui Huang, 2020, medRxiv.

A Novel Gene ZNF 862 Causes Hereditary 1 Gingival Fibromatosis

Junjie, Juan Wu, Siyuan Huang, 2022 .

A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family

S. Banerjee, Shengran Liang, Hui Huang, 2016, Journal of Clinical Neuroscience.

Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber’s congenital amaurosis in unrelated Chinese patients

S. Banerjee, Shengran Liang, M. Qi, 2017, Oncotarget.