Associated Papers
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.
Yang M et al.
Npj Precision Oncology, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates.
Kriukelis R et al.
European Journal of Human Genetics : Ejhg, 2025
Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.
Ozgur Z et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss.
Namba K et al.
Bmc Research Notes, 2024
Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population.
Lee YH et al.
Genes, 2023
Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases.
Kim YS et al.
Scientific Reports, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.
Yuan Y et al.
European Journal of Human Genetics : Ejhg, 2020
Systematic Review of Pathogenic GJB2 Variants in the Latino Population.
Bouzaher MH et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Yu X et al.
Orphanet Journal of Rare Diseases, 2020
Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.
Wu CC et al.
Genes, 2019
Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.
Xiang YB et al.
International Journal of Pediatric Otorhinolaryngology, 2019
Unique spectra of deafness-associated mutations in Mongolians provide insights into the genetic relationships among Eurasian populations.
Erdenechuluun J et al.
Plos One, 2018
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C et al.
European Journal of Human Genetics : Ejhg, 2017
Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR.
Chang MY et al.
Scientific Reports, 2016
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
Kim SY et al.
Plos One, 2015