Human Y Chromosome Base-Substitution Mutation Rate Measured by Direct Sequencing in a Deep-Rooting Pedigree

Yali Xue, Qiuju Wang, Quan Long, +12

Current Biology

Phenotypic VariationGenetic TestingGeneticsGenomicsGenetic Analysis +18

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

Liang Zong, Jing Guan, Megan Ealy, +27

Journal of Medical Genetics

A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family

Yali Zhao, Dayong Wang, Liang Zong, +13

PLoS ONE

Family MembersGeneticsMolecular GeneticsDisease Gene IdentificationMendelian Disorder +19

Exome Sequencing and Linkage Analysis Identified Tenascin-C (TNC) as a Novel Causative Gene in Nonsyndromic Hearing Loss

Yali Zhao, Feifan Zhao, Liang Zong, +20

PLoS ONE

Exome SequencingGeneticsPathologyMolecular GeneticsDisease Gene Identification +19

Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation

Qiuju Wang, Qingzhong Li, Dongyi Han, +8

Biochemical and Biophysical Research Communications

Mendelian DisorderMitochondrial FunctionGenetic DisorderRrna C1494t MutationGenetics +10

Keratin 14 Point Mutations at Codon 119 of Helix 1A Resulting in Different Epidermolysis Bullosa Simplex Phenotypes

Rebecca E. Cummins, Sandra Klingberg, Julie Wesley, +3

Journal of Investigative Dermatology

Point MutationsCutaneous BiologyGeneticsKeratin 14Molecular Biology +5

Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss

Yali Zhao, Yuting Yi, Yun Gao, +17

PLoS ONE

EngineeringMendelian DisorderLarge Chinese FamiliesGenetic DisorderMedicine +12

Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment

Yali Zhao, Qiong Liu, Yuan Hu, +6

Chinese Medical Journal

Identification of gene biomarkers with expression profiles in patients with allergic rhinitis

Yun Hao, Boqian Wang, Jinming Zhao, +5

Allergy Asthma and Clinical Immunology

SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans

Jing Guan, Dayong Wang, Wenjian Cao, +11

Journal of Human Genetics