Associated Papers
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
Genetic variants and audiometric patterns in nonsyndromic enlarged vestibular aqueduct Chinese children with complete hearing loss.
Guan R et al.
European Journal of Pediatrics, 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
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing.
Rajput K et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2024
HEARRING group genetic marker study: genetic background of CI patients.
Usami SI et al.
Acta Oto-laryngologica, 2024
Advances in the Study of Etiology and Molecular Mechanisms of Sensorineural Hearing Loss.
He C et al.
Cell Biochemistry and Biophysics, 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
Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population.
Chen HK et al.
Bmc Medical Genomics, 2024
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.
Ma P et al.
Molecular Genetics & Genomic Medicine, 2024
A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts.
Wang S et al.
Molecular Genetics & Genomic Medicine, 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
Next-generation sequencing for genetic testing of hearing loss populations.
Wang L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
The Association Between Mitochondrial tRNAGlu Variants and Hearing Loss: A Case-Control Study.
Yu X et al.
Pharmacogenomics and Personalized Medicine, 2024
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
Optimized concurrent hearing and genetic screening in Beijing, China: A cross-sectional study.
Wen C et al.
Bioscience Trends, 2023
Next-generation sequencing improves precision medicine in hearing loss.
Imizcoz T 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
Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts.
He X et al.
Bmc Medical Genomics, 2022
Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation.
Gu P 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
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I et al.
Human Genetics, 2022
Maternally transmitted nonsyndromic hearing impairment may be associated with mitochondrial tRNAAla 5601C>T and tRNALeu(CUN) 12311T>C mutations.
Yu X et al.
Journal of Clinical Laboratory Analysis, 2022
A fully integrated SNP genotyping system for hereditary hearing-loss detection.
Li N et al.
Lab on a Chip, 2022
Variant analysis of 92 Chinese Han families with hearing loss.
Jin X et al.
Bmc Medical Genomics, 2022
Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province.
Luo H et al.
Frontiers in Pediatrics, 2022
Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis.
Zhu K et al.
Frontiers in Pediatrics, 2022
Genetic testing involving 100 common mutations for antenatal diagnosis of hereditary hearing loss in Chongqing, China.
Hu H et al.
Medicine, 2021
Targeted next-generation sequencing of deaf patients from Southwestern China.
Li Y et al.
Molecular Genetics & Genomic 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
Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran.
Koohiyan M et al.
Intractable & Rare Diseases Research, 2021
Screening Strategies for Deafness Genes and Functional Outcomes in Cochlear Implant Patients.
Nisenbaum E et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2021
Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China.
Cai L et al.
Frontiers in Genetics, 2021
Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China.
Tang X et al.
Frontiers in Pediatrics, 2021
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
Genetic Epidemiology of Hearing Loss in the 22 Arab Countries: A Systematic Review.
Sidenna M et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
[Application of PCR reverse dot blot in non-syndromic deafness gene detection].
Liu Y et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2020
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.
Li M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mutation analysis of the SLC26A4 gene in three Chinese families.
Wen C et al.
Bioscience Trends, 2019
Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.
Dai P et al.
American Journal of Human Genetics, 2019
A Microfluidic-Based SNP Genotyping Method for Hereditary Hearing-Loss Detection.
Lu Y et al.
Analytical Chemistry, 2019
Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province.
Zhou Y et al.
Molecular Genetics & Genomic Medicine, 2019
Identification of causative variants in patients with non-syndromic hearing loss in the Minnan region, China by targeted next-generation sequencing.
Wu X et al.
Acta Oto-laryngologica, 2019
Analysis between phenotypes and genotypes of inner ear malformation.
Wang S et al.
Acta Oto-laryngologica, 2019
Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform.
Sun Y et al.
Medicine, 2019