A Nonsense Mutation in DHTKD1 Causes Charcot-Marie-Tooth Disease Type 2 in a Large Chinese Pedigree

Wangyang Xu, Ming-min Gu, Lianhua Sun, +14

The American Journal of Human Genetics

Mendelian DisorderLarge Chinese PedigreeGenetic DisorderGeneticsHuman Polymorphism +6

The homozygous p.<scp>V37I</scp> variant of <i><scp>GJB2</scp></i> is associated with diverse hearing phenotypes

Yongchuan Chai, Di Chen, Lianhua Sun, +6

Clinical Genetics

GeneticsGenetic EpidemiologyHuman PolymorphismMolecular GeneticsDiverse Hearing Phenotypes +27

Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome

Lianhua Sun, Xiaohua Li, Jun Shi, +5

Scientific Reports

Self-Assembled ZnO Nanoparticle Capsules for Carrying and Delivering Isotretinoin to Cancer Cells

Wei Zhao, Jishi Wei, Peng Zhang, +5

ACS Applied Materials & Interfaces

NanoparticlesNovel Capsule ShellsEngineeringBiomedical EngineeringNanomedicine +15

A dominant variant in DMXL2 is linked to nonsyndromic hearing loss

Dongye Chen, Xingfeng Liu, Xiaojiang Lin, +13

Genetics in Medicine

Genetic DisorderGeneticsAudiologyPathologyNonsyndromic Hearing Loss +6

Targeted Next-Generation Sequencing in Uyghur Families with Non-Syndromic Sensorineural Hearing Loss

Ying Chen, Zhentao Wang, Zhaoyan Wang, +7

PLoS ONE

Uyghur FamiliesGeneticsPathologyMolecular GeneticsDisease Gene Identification +19

Characterization of Spectrum, de novo Rate and Genotype-Phenotype Correlation of Dominant GJB2 Mutations in Chinese Hans

Xiuhong Pang, Yongchuan Chai, Lianhua Sun, +5

PLoS ONE

EngineeringFamily MembersGeneticsMolecular BiologyMolecular Genetics +14

Mutation spectrum and differential gene expression in cystic and solid vestibular schwannoma

Zhihua Zhang, Zhaoyan Wang, Lianhua Sun, +4

Genetics in Medicine

Mendelian DisorderGenetic DisorderVestibular SchwannomaEar MoldingGenetics +7

Failure Of Hearing Acquisition in Mice With Reduced Expression of Connexin 26 Correlates With the Abnormal Phasing of Apoptosis Relative to Autophagy and Defective ATP-Dependent Ca2+ Signaling in Kölliker’s Organ

Lianhua Sun, Dekun Gao, Junmin Chen

Frontiers in Cellular Neuroscience

Pseudo-Temporal Analysis of Single-Cell RNA Sequencing Reveals Trans-Differentiation Potential of Greater Epithelial Ridge Cells Into Hair Cells During Postnatal Development of Cochlea in Rats

Jianyong Chen, Dekun Gao, Junmin Chen, +9

Frontiers in Molecular Neuroscience