Associated Papers
GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.
Morris JA et al.
International Journal of Molecular Sciences, 2026
Mutation Spectrum of GJB2 in Taiwanese Patients with Sensorineural Hearing Loss: Prevalence, Pathogenicity, and Clinical Implications.
Lin YF et al.
International Journal of Molecular Sciences, 2025
Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy.
Lü Y et al.
Prenatal Diagnosis, 2025
Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.
Fehrmann MLA et al.
Journal of the Association for Research in Otolaryngology : Jaro, 2025
Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.
Lin PH et al.
Clinical and Experimental Otorhinolaryngology, 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
Prenatal exome sequencing for the morphologically normal fetus: Should we be doing it?
Gao Z et al.
Prenatal Diagnosis, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
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
Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.
Sansović I et al.
Croatian Medical Journal, 2024
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.
Ma P et al.
Molecular Genetics & Genomic Medicine, 2024
Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform.
Bui DT et al.
Scientific Reports, 2024
Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population.
El Fizazi K et al.
Audiology & Neuro-otology, 2024
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Zhang L et al.
Journal of Human Genetics, 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
Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort.
Yuan L et al.
Genes, 2023
Hereditary deafness carrier screening in 9,993 Chinese individuals.
Liu Y et al.
Frontiers in Genetics, 2023
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 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
Genetic background in late-onset sensorineural hearing loss patients.
Uehara N et al.
Journal of Human Genetics, 2022
Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment.
Chen HL et al.
Diagnostics (basel, Switzerland), 2021
GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.
Abbaspour Rodbaneh E et al.
Journal of Clinical Laboratory Analysis, 2021
High prevalence of TP53 loss and whole-genome doubling in early-onset colorectal cancer.
Kim JE et al.
Experimental & Molecular Medicine, 2021
Germline mutation analyses of malignant ground glass opacity nodules in non-smoking lung adenocarcinoma patients.
Mao W et al.
Peerj, 2021
Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes.
Xu Y et al.
Frontiers in Genetics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.
Chakchouk I et al.
European Journal of Human Genetics : Ejhg, 2019
Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population.
Figueroa-Ildefonso E et al.
Genes, 2019
Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S et al.
Molecular Genetics & Genomic Medicine, 2019
Pilot study of a novel multi-functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single-gene disorder screening.
Luo Y et al.
Molecular Genetics & Genomic Medicine, 2019
Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families.
Sang S et al.
Frontiers in Genetics, 2019
Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.
Jiang P et al.
Frontiers in Genetics, 2019
The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.
Nishio SY et al.
Human Mutation, 2017
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
Sakuma N et al.
Journal of Human Genetics, 2016
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.
Mori K et al.
Plos One, 2016
Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.
Iwasa YI et al.
Plos One, 2016
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.
Taniguchi M et al.
Journal of Human Genetics, 2015
Targeted Exome Sequencing of Deafness Genes After Failure of Auditory Phenotype-Driven Candidate Gene Screening.
Kim BJ et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2015
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
Nishio SY et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.
Nishio SY et al.
Genetic Testing and Molecular Biomarkers, 2015
Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.
Chen T et al.
Annals of Human Genetics, 2014
Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.
Ji H et al.
Bmc Ear, Nose, and Throat Disorders, 2014
Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity.
Kim SY et al.
Plos One, 2013
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
Miyagawa M et al.
Plos One, 2013