Jie Ling

发表

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.

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.

Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation.

Yong Feng, L. Mei, Hongsheng Chen, 2021, Stem cell research.

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..

Targeted Sequencing of Genomic Repeat Regions Detects Circulating Cell-free Echinococcus DNA

Zhuohua Zhang, W. Lv, Zhengqing Wan, 2020, PLoS neglected tropical diseases.

A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.

X. Liu, Yong Feng, Jing Liu, 2019, Gene.

A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family

Yong Feng, Shu-shan Sang, Zhijie Niu, 2018, Journal of Human Genetics.

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.

Elmod3 knockout leads to progressive hearing loss and abnormalities in cochlear hair cell stereocilia.

X. Liu, D. Yan, Yong Feng, 2019, Human molecular genetics.

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.

ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss

X. Liu, M. Li, D. Yan, 2018, Human Genetics.

Characterization of Mitochondrial DNA Methylation of Alzheimer’s Disease in Plasma Cell-Free DNA

Zhengqing Wan, Binrong Ding, Xiaoqing Peng, 2023, Diagnostics.

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.

Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation.

Yong Feng, Jing Liu, L. Mei, 2021, Stem cell research.

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 loss

Yong Feng, L. Mei, Jie Sun, 2023, PloS one.

ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss

X. Liu, M. Li, D. Yan, 2018, Human Genetics.

ABCC1 deficiency potentiated noise-induced hearing loss in mice by impairing cochlear antioxidant capacity

L. Mei, Xianlin Liu, Jie Ling, 2024, Redox biology.