Associated Papers
Genetic screening for hearing impairment and the genotype-phenotype correlation of GJB2 c.109G>A variants in 47,729 neonates: a population-based study in southern China.
Li J et al.
International Journal of Pediatric Otorhinolaryngology, 2026
GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.
Morris JA et al.
International Journal of Molecular Sciences, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Genetic screening for hearing loss of 38,589 neonates with follow-up in South China.
Gu X et al.
Human Genomics, 2025
Genotype Characteristics and Hearing Phenotype Analysis of Newborns with Biallelic GJB2 Mutations: A 652-Case-Cohort Study.
Li J et al.
International Journal of Neonatal Screening, 2025
Characterizing the spectrum and clinical impact of GJB2 mutations in patients with hearing loss: Insights into genetic variability and phenotypic outcomes.
Akhbari E et al.
International Journal of Pediatric Otorhinolaryngology, 2025
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
PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation.
Hu SW et al.
Nature Communications, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
The Importance of Newborn Genetic Screening for Early Identification of GJB2 and SLC26A4 Related Hearing Loss.
Wener ER et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2025
Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.
Zhou Z et al.
Biomedical Reports, 2025
Mutation spectrum of GJB2, SLC26A4 and mtDNA12SrRNA genes in non-syndromic hearing loss patients from Gansu, China.
Duan S et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.
Yang M et al.
Npj Precision Oncology, 2025
Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.
Jin Y et al.
Biomedicines, 2024
Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.
Li J et al.
Heliyon, 2024
Asian Screening Array and Next-Generation Sequencing Based Panels Applied to Preimplantation Genetic Testing for Monogenic Disorders Preclinical Workup in 294 Families: A Retrospective Analysis.
Ren J et al.
Prenatal Diagnosis, 2024
Genetic screening of newborns for deafness over 11 years in Beijing, China: More infants could benefit from an expanded program.
Ruan Y et al.
Bioscience Trends, 2024
Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families.
Gao B et al.
The Journal of Molecular Diagnostics : Jmd, 2024
[Mutation spectrum analysis of 23-site chip neonatal deafness genetic screening].
Ruan Y et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2024
Next-generation sequencing for genetic testing of hearing loss populations.
Wang L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Exploration of a Novel Noninvasive Prenatal Testing Approach for Monogenic Disorders Based on Fetal Nucleated Red Blood Cells.
Li X et al.
Clinical Chemistry, 2023
Hearing and Hearing Loss Progression in Patients with GJB2 Gene Mutations: A Long-Term Follow-Up.
Sakata A et al.
International Journal of Molecular Sciences, 2023
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL et al.
Biomolecules, 2023
Preimplantation genetic testing for hereditary hearing loss in Chinese population.
Bi Q et al.
Journal of Assisted Reproduction and Genetics, 2023
Gene Screening for Non-Syndromic Deafness in Hainanese Patients.
Fu Y et al.
The Journal of International Advanced Otology, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Hereditary deafness carrier screening in 9,993 Chinese individuals.
Liu Y et al.
Frontiers in Genetics, 2023
Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases.
Kim YS et al.
Scientific Reports, 2022
Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.
Xiang J et al.
Bmc Medical Genomics, 2022
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness.
Tian X et al.
Frontiers in Genetics, 2022
Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing.
Zeng B et al.
Frontiers in Genetics, 2022
Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment.
Chen HL et al.
Diagnostics (basel, Switzerland), 2021
Genetic testing involving 100 common mutations for antenatal diagnosis of hereditary hearing loss in Chongqing, China.
Hu H et al.
Medicine, 2021
Genetic mutations in patients with nonsyndromic hearing impairment of minority and Han Chinese ethnicities in Qinghai, China.
Duan S et al.
The Journal of International Medical Research, 2021
Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China.
Cai L et al.
Frontiers in Genetics, 2021
Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.
Xie L et al.
Neural Plasticity, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
Liu XW et al.
International Journal of Pediatric Otorhinolaryngology, 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