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Plos One|September 14, 2023
Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing lossXianlin Liu, Jie Wen, Xuezhong Liu, et al.
International Journal of Pediatric Otorhinolaryngology|August 14, 2017
Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese familyZhijie Niu, Yong Feng, Zhengmao Hu, et al.
Frontiers in Genetics|August 6, 2019
Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear FamiliesShushan Sang, Jie Ling, Xuezhong Liu, et al.
Clinical and Experimental Otorhinolaryngology|October 11, 2023
A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical ApplicationAnhai Chen, Jie Ling, Xin Peng, et al.
Journal of Human Genetics|March 22, 2018
A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese familyYuyuan Deng, Zhijie Niu, LiangLiang Fan, et al.
Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery|December 4, 2024
The Distribution and Therapeutic Effectiveness of Clinical Unilateral Ménière's Disease PhenotypesYongjia Chen, Xinzhang Cai, Yulu Zhang, et al.
Gene|April 12, 2019
A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum reviewTaoxi Li, Yong Feng, Yalan Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 6, 2019
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysisMeng Li, Lingyun Mei, Chufeng He, et al.
Human Genetics|May 2, 2018
ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing lossWu Li, Jie Sun, Jie Ling, et al.
Journal of Human Genetics|January 16, 2015
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese familyHonghan Wang, Xinwei Wang, Chufeng He, et al.
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