Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome

著者: Jin, Yaqiong, Zhang, Li, Wang, Senfen, Chen, Feng, Gu, Yang, Hong, Enyu, Yu, Yongbo, Ni, Xin, Guo, Yongli, Shi, Tieliu, Xu, Zigang
出版年 Sci Rep (2017)

Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome

著者: Yu, Yongbo, Liu, Wei, Chen, Min, Yang, Yang, Yang, Yeran, Hong, Enyu, Lu, Jie, Zheng, Jun, Ni, Xin, Guo, Yongli, Zhang, Jie
出版年 Mol Genet Genomic Med (2020)

Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct

著者: Yu, Yongbo, Yang, Yang, Lu, Jie, Jin, Yaqiong, Yang, Yeran, Hong, Enyu, Shi, Jin, Chen, Feng, Han, Shujing, Chu, Ping, Guo, Yongli, Ni, Xin
出版年 Clin Exp Otorhinolaryngol (2019)