X. Cai

发表

Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome

Yong Feng, L. Mei, Chufeng He, 2021, Gene Therapy.

A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome

Yong Feng, L. Mei, Chufeng He, 2022, BMC Medical Genomics.

Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I

Yong Feng, Zhijie Niu, L. Mei, 2020, European Archives of Oto-Rhino-Laryngology.

Mechanism underlying synergic activation of Tyrosinase promoter by MITF and IRF4

Yong Feng, L. Mei, Chufeng He, 2017 .

Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.

X. Liu, Zhengmao Hu, Yong Feng, 2017, International journal of pediatric otorhinolaryngology.

Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families

Yong Feng, Jing Liu, Shu-shan Sang, 2019, Front. Genet..

A Model of Waardenburg Syndrome Using Patient-Derived iPSCs With a SOX10 Mutation Displays Compromised Maturation and Function of the Neural Crest That Involves Inner Ear Development

Yong Feng, L. Mei, Chufeng He, 2021, Frontiers in Cell and Developmental Biology.

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing

D. Yan, Yong Feng, L. Mei, 2019, Neural plasticity.

A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder

W. Park, Eunyoung Yi, S. Blanton, 2021, Proceedings of the National Academy of Sciences.

Mutations in TMEM43 cause autosomal dominant auditory neuropathy spectrum disorder via interaction with connexin-mediated passive conductance channels

W. Park, Eunyoung Yi, S. Blanton, 2020, bioRxiv.

New ZNF644 mutations identified in patients with high myopia

K. Xia, L. Xia, Hui Guo, 2014, Molecular vision.

Reproductive guidance through prenatal diagnosis and genetic counseling for recessive hereditary hearing loss in high-risk families.

M. Li, Yong Feng, Shu-shan Sang, 2018, International journal of pediatric otorhinolaryngology.

A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing

Yong Feng, L. Mei, Hongsheng Chen, 2016, PloS one.

Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss

Y. Li, X. Liu, K. Xia, 2016, Journal of Human Genetics.

[Study of the anatomy related to cochlear implantation guided by HRCT].

Yong Feng, L. Mei, Chufeng He, 2011, Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery.

Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis

X. Liu, S. Blanton, Zhengmao Hu, 2019, Genetics in Medicine.

Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta‐analysis

F. Acke, L. Mei, Chufeng He, 2021, Clinical genetics.