• <em>TCOF1</em> Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery
• 3D printed temporal bones for preoperative simulation and planning
• A base editor for the long-term restoration of auditory function in mice with recessive profound deafness
• A Classical Phenotype of Fabry Disease with Novel Mutation Found by Kidney Biopsy, A Case Report
• A novel compound heterozygous PEX1 variant in Heimler syndrome
• A novel method for detecting nine hotspot mutations of deafness genes in one tube
• A Novel Variant in the DIAPH1 Gene Causing Macrothrombocytopenia and Non-syndromic Hearing Loss in a Pediatric Saudi Girl
• A patient with 18p11.32-p11.21 deletion have monaural deafness caused by an inadequate haplodose of THOC1: A case report
• Abnormal Innervation, Demyelination, and Degeneration of Spiral Ganglion Neurons as Well as Disruption of Heminodes are Involved in the Onset of Deafness in Cx26 Null Mice
• Advancements and future prospects of adeno-associated virus-mediated gene therapy for sensorineural hearing loss
• Analysis of deafness susceptibility gene of neonates in northern Guangdong, China
• Autosomal dominant non-syndromic hearing loss caused by a novel mutation in <em>MYO7A</em>: A case report and review of the literature
• Bilateral gene therapy in children with autosomal recessive deafness 9: single-arm trial results
• Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss
• Case report: mitochondrial diabetes mellitus in a Chinese family due to m.3243A&gt;G
• Characteristics of hearing loss-associated gene mutations: A multi-center study of 119,606 neonates in Gannan
• Clinical and genetic analysis of a child with X-linked dominant Alport syndrome
• Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review
• Combined AAV-mediated gene replacement therapy improves auditory function in a mouse model of human DFNB42 deafness
• Combined genetic polymorphisms of the GSTT1 and NRF2 genes increase susceptibility to cisplatin-induced ototoxicity: A preliminary study
• Comparative exploration of mammalian deafness gene homologues in the Drosophila auditory organ shows genetic correlation between insect and vertebrate hearing
• Comprehensiveness of online sources for patient education on hereditary hearing impairment
• Contemporary directions in the therapy of sensory hearing loss
• Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
• Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
• Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43
• Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration
• Delineating the Disease Boundaries: Homozygous <em>CDC14A</em> Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome
• Demographic analysis of hearing impairment based on various parameters in patients with cochlear implant
• Dispersed DNA variants underlie hearing loss in South Florida's minority population
• Effect of Recombinant Human Growth Hormone Treatment in a Patient with Short Stature Associated with the Ring Chromosome 17 Syndrome
• Elderly onset of MELAS carried an M.3243A >G mutation in a female with deafness and visual deficits: A case report
• Engineering of the AAV-Compatible Hair Cell-Specific Small-Size Myo15 Promoter for Gene Therapy in the Inner Ear
• Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers
• Excessive processing and acetylation of OPA1 aggravate age-related hearing loss via the dysregulation of mitochondrial dynamics
• Exploration of a Novel Noninvasive Prenatal Testing Approach for Monogenic Disorders Based on Fetal Nucleated Red Blood Cells
• Exploring healthcare barriers and satisfaction levels among deaf individuals in Ecuador: A video-based survey approach
• FGF20
• Finding a window for gene therapy for hereditary deafness
• Frequency of Mutations in the <em>TPO</em> Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile
• Functional Consequences of Pathogenic Variants of the <em>GJB2</em> Gene (Cx26) Localized in Different Cx26 Domains
• Functional Studies of Deafness-Associated Pendrin and Prestin Variants
• Gene therapy for hereditary deafness
• Gene Therapy for Inherited Hearing Loss: Updates and Remaining Challenges
• Gene therapy proves successful in treating hereditary deafness
• Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome
• Genetic and phenotypic analysis of <em>MYO15A</em> rare variants associated with autosomal recessive hearing loss
• Genetic counseling for hearing loss today
• Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
• Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene
• Hair cell-specific Myo15 promoter-mediated gene therapy rescues hearing in DFNB9 mouse model
• Hearing Loss Among Families with 2 and More Affected Members in Golestan Province, Iran: A Cross-Sectional Study of 320 Families
• Hereditary deafness carrier screening in 9,993 Chinese individuals
• High-throughput analysis of CLIC5 interactants using a thermal-stability assay
• Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families
• Identification of a novel compound heterozygous pathogenic variant in <em>MYO7A</em> causing Usher syndrome type IB in a Chinese patient: a case report
• Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss
• Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review
• Kidney involvement in rare hereditary diseases
• Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations
• Long-term auditory monitoring in children with Alport syndrome based on different degrees of renal injury
• Low-intensity noise exposure takes an essential part in the mechanism of late-onset hereditary hearing loss caused by Abcc1 mutation
• Metastasis Associated in Colorectal Cancer 1 (MACC1) mRNA Expression Is Enhanced in Sporadic Vestibular Schwannoma and Correlates to Deafness
• MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population
• Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China
• Neurological presentations of inborn errors of purine and pyrimidine metabolism
• Next-generation sequencing for genetic testing of hearing loss populations
• Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the <em>SLC26A4</em> gene: a case report and literature review
• Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
• Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss
• Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families
• Novel GPR156 variants confirm its role in moderate sensorineural hearing loss
• Novel Variant in <em>CEP250</em> Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss
• Pathogenic Variants in <em>USH1G</em>/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome
• Pathophysiology of human hearing loss associated with variants in myosins
• PAX3 mutation suppress otic progenitors proliferation and induce apoptosis by inhibiting WNT1/β-catenin signaling pathway in WS1 patient iPSC-derived inner ear organoids
• Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case-Control Study
• Refractive Surgery in a Patient with Alport Syndrome. A Case Report
• Research progress in diagnosis and treatment of hereditary hearing loss
• Research progress on hereditary endocrine and metabolic diseases associated with sensorineural hearing loss
• Research progress on incomplete partition type 3 inner ear malformation
• Retracted: The Effectiveness of Cochlear Implantation for Children of Hereditary Deafness: A Multicenter Retrospective Study
• Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss or Deafness
• Screening copy number variations in 35 unsolved inherited retinal disease families
• Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency
• Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
• Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study
• Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in <em>MYO6</em> Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss
• The Cochlear Matrisome: Importance in Hearing and Deafness
• The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar
• The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report
• The historical demography of the Martha's Vineyard signing community
• The human OPA1^delTTAG mutation induces adult onset and progressive auditory neuropathy in mice
• The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics
• The Inheritance of Hearing Loss and Deafness: A Historical Perspective
• The Opportunities and Challenges of Gene Therapy for Treatment of Inherited Forms of Vision and Hearing Loss
• The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of <em>OTOF</em> gene variations in patients with auditory neuropathy
• Unraveling haplotype errors in the DFNA33 locus
• Using PGT to give birth to hereditary conductive deafness SYNS1 family a healthy offspring: a case report
• Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report