Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome

por Feng, Haifeng, Xu, Hongen, Chen, Bei, Sun, Shuping, Zhai, Rongqun, Zeng, Beiping, Tang, Wenxue, Lu, Wei
Publicado 2021

A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient

por Zuo, Bin, Xu, Hongen, Pan, Zhaoyu, Mao, Lu, Feng, Haifeng, Zeng, Beiping, Tang, Wenxue, Lu, Wei
Publicado 2022

A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family

por Zeng, Beiping, Xu, Hongen, Tian, Yongan, Lin, Qianyu, Feng, Haifeng, Zhang, Zhifeng, Li, Siqi, Tang, Wenxue
Publicado 2022

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants

por Mao, Lu, Wang, Yueqiang, An, Lei, Zeng, Beiping, Wang, Yanyan, Frishman, Dmitrij, Liu, Mengli, Chen, Yanyu, Tang, Wenxue, Xu, Hongen
Publicado 2023

Early truncation of the N‐terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype

por Mi, Yanfang, Liu, Danhua, Zeng, Beiping, Tian, Yongan, Zhang, Hui, Chen, Bei, Zhang, Juanli, Xue, Hong, Tang, Wenxue, Zhao, Yulin, Xu, Hongen
Publicado 2020

Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing

por Zeng, Beiping, Xu, Hongen, Yu, Yanan, Li, Siqi, Tian, Yongan, Li, Tiandong, Yang, Zengguang, Wang, Haili, Wang, Guangke, Chang, Mingxiu, Tang, Wenxue
Publicado 2022

High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing

por Zhang, Sen, Xu, Hongen, Tian, Yongan, Liu, Danhua, Hou, Xinyue, Zeng, Beiping, Chen, Bei, Liu, Huanfei, Li, Ruijun, Li, Xiaohua, Zuo, Bin, Tang, Ryan, Tang, Wenxue
Publicado 2021

Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene

por Tian, Yongan, Xu, Hongen, Liu, Danhua, Zhang, Juanli, Yang, Zengguang, Zhang, Sen, Liu, Huanfei, Li, Ruijun, Tian, Yingtao, Zeng, Beiping, Li, Tong, Lin, Qianyu, Wang, Haili, Li, Xiaohua, Lu, Wei, Shi, Ying, Zhang, Yan, Zhang, Hui, Jiang, Chang, Xu, Ying, Chen, Bei, Liu, Jun, Tang, Wenxue
Publicado 2021