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
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
Analysis of combined screening results of the hearing and deafness genes in 10,754 newborns.
Lian J et al.
Open Medicine (warsaw, Poland), 2026
Multidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai(ISRCTN89197487).
Ren B et al.
Plos One, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C 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
Combined hearing screening and genetic screening of deafness among Sanya newborns in Hainan Province.
Chen L 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
Comparison of clinical performance of MeltPro hearing loss assay and targeted next generation sequencing assay for genetic screening of hearing loss.
Wang X et al.
Scientific Reports, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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
Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families.
Xiao Y et al.
Genetic Testing and Molecular Biomarkers, 2025
Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening.
Hao C et al.
European Journal of Human Genetics : Ejhg, 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
Clinical Phenotypic Characterization of the SLC26A4 Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct.
Zhuang B et al.
The Laryngoscope, 2025
Saliva Sample-Based Non-Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang.
Xu C et al.
Molecular Genetics & Genomic Medicine, 2025
Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester.
Li H et al.
Orphanet Journal of Rare Diseases, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
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
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
Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.
Zhang L et al.
Cellular and Molecular Biology (noisy-le-grand, France), 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 of hearing loss patients in Northwest China: Identification of 20 novel variants.
Ma P et al.
Molecular Genetics & Genomic Medicine, 2024
Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.
Tsukada K et al.
Scientific Reports, 2024
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities.
Narumi S et al.
Nature Genetics, 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
Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss.
Han JH et al.
Journal of Clinical Medicine, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
Takahashi S et al.
International Journal of Molecular Sciences, 2024
The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients.
Yu K et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2024
Multicolor melting curve analysis discloses high carrier frequency of hearing loss-associated variants among neonates in Jiangsu province.
Liu Y et al.
Molecular Genetics & Genomic Medicine, 2024
Functional studies of deafness-associated pendrin and prestin variants.
Takahashi S et al.
Biorxiv : the Preprint Server for Biology, 2024
Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.
Xiong Y et al.
International Journal of Pediatric Otorhinolaryngology, 2024
Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow-up.
Kun L et al.
Molecular Genetics & Genomic Medicine, 2024
Genetic screening of common genetic deafness in 60,391 women of childbearing age and intervention of birth defects.
Niu L et al.
Archives of Medical Science : Ams, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Characteristics of hearing loss-associated gene mutations: A multi-center study of 119,606 neonates in Gannan.
Zhao M et al.
International Journal of Pediatric Otorhinolaryngology, 2023
Comparative analysis of allele frequencies of 15 deafness gene variants between hearing-loss and normal populations in Henan, China.
Tian Y et al.
Heliyon, 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
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
Optimized concurrent hearing and genetic screening in Beijing, China: A cross-sectional study.
Wen C et al.
Bioscience Trends, 2023