• <em>CHD7</em> Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction
• "I don't really know how to help her." Family caregivers' capabilities, opportunities and motivations to provide hearing support to long-term care home residents with dementia
• A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome
• A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy
• A novel mutation in the OTOF gene in a Chinese family with auditory neuropathy
• A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review
• A novel variant c.902C>A (p. A301D) in KCNQ4 associated with non-syndromic deafness 2A in a Chinese family
• A novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese family
• A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities
• A study to evaluate the burden of hearing loss and its correlation with risk factors among high-risk infants at a teaching institution, Jaipur
• A Wolfram-like syndrome family: Case report
• An approach designed to fail deaf children and their parents and how to change it
• An Interesting Case of Wolf-Parkinson-White Syndrome in a Young Patient With Sensorineural Deafness
• Are toddlers with neurosensory impairment more difficult to follow up? A secondary analysis of the hPOD follow-up study
• Assessing parent-child interaction with deaf and hard of hearing infants aged 0-3 years: An international multi-professional e-Delphi
• Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss
• Australian families of deaf and hard of hearing children: Are they using sign?
• Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades
• Bibliometric visualization analysis of thiamine-responsive megaloblastic anemia syndrome
• Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals
• Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss
• Cesarean birth and adverse birth outcomes among sub-populations of deaf and hard-of-hearing people
• Clinical Insights Into Waardenburg-Shah Syndrome: A Case Series and Literature Review
• Clinical phenotypic and genetic analysis of syndrome families with EYA1 gene variants
• Clinical Reasoning: A 24-Year-Old Man With Gait Impairment, Hearing Loss, and Recurrent Fever
• Clinical, Biomarker, and Research Tests Among US Government Personnel and Their Family Members Involved in Anomalous Health Incidents
• Comparison of RT-PCR and antigen test sensitivity across nasopharyngeal, nares, and oropharyngeal swab, and saliva sample types during the SARS-CoV-2 omicron variant
• Connexin Gap Junction Channels and Hemichannels: Insights from High-Resolution Structures
• Deaf role-models for Deaf children in hearing families: a scoping review
• Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice
• 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
• Development of the national consensus statement on ear health and hearing check recommendations for Aboriginal and Torres Strait Islander children aged under 6 years attending primary care: systematic scoping review and e-Delphi
• Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome
• Engineering a human P2X2 receptor with altered ligand selectivity in yeast
• Epidemiology, aetiology and diagnosis of congenital hearing loss via hearing screening of 153 913 newborns
• Examining the Language and Communication Factors of a Deaf Child with Autism Spectrum Disorder from an Immigrant Korean Family
• Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families
• Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
• Factors associated with the anxiety score of deaf and hearing mothers
• Family-Centered Early Intervention Deaf/Hard of Hearing (FCEI-DHH): Introduction
• First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants
• Frequency of Mutations in the <em>TPO</em> Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile
• Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families
• Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants
• GLUT1 inhibitor BAY-876 induces apoptosis and enhances anti-cancer effects of bitter receptor agonists in head and neck squamous carcinoma cells
• H Syndrome: Three New Cases from Morocco
• Hearing Loss Among Families with 2 and More Affected Members in Golestan Province, Iran: A Cross-Sectional Study of 320 Families
• Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss
• Homozygous Paternally Inherited <em>ASPA</em> Variant in a Patient with Canavan Disease
• Human Organoids for Rapid Validation of Gene Variants Linked to Cochlear Malformations
• IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients
• IGF1 haploinsufficiency: phenotype and response to growth hormone treatment in nine patients
• Incidental Finding of MEGDEL Syndrome at a Tertiary Care Center in Saudi Arabia
• Insight into the structure, function and the tumor suppression effect of gasdermin E
• Involvement of CATSPER 2 mutation in a familial context of unexplained infertility and fertilization failure associated with hearing loss: a case report
• Kidney involvement in rare hereditary diseases
• Late-onset hereditary hearing loss caused by <em>TMPRSS3</em> compound heterozygous mutations
• Longitudinal method comparison: modeling polygenic risk for post-traumatic stress disorder over time in individuals of African and European ancestry
• Low-Dose Aspirin and Progression of Age-Related Hearing Loss: A Secondary Analysis of the ASPREE Randomized Clinical Trial
• Low-intensity noise exposure takes an essential part in the mechanism of late-onset hereditary hearing loss caused by Abcc1 mutation
• Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa
• Mental Health, Parenting Stress, and Parenting Practices of Parents of Deaf or Hard of Hearing Children During the Pandemic
• Modulation of galectin-9 mediated responses in monocytes and T-cells by pregnancy-specific glycoprotein 1
• Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants
• Neuroimaging Findings in US Government Personnel and Their Family Members Involved in Anomalous Health Incidents
• Newborn concurrent hearing and genetic screening for hearing impairment: A systematic review and meta‑analysis
• Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases
• Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families
• Novel GJB2 mutation c.188delT compound with c.235delC causing non-syndromic hearing loss in a Chinese family: A case report
• Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms
• Novel sialidase inhibitors suppress mumps virus replication and infection
• Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome
• OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome
• Pediatric Cochlear Implants in the Chudley-McCullough Syndrome: A Report of Two Cases
• Perrault syndrome: The Way Forward After Genetic Counselling?
• Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia
• PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss
• Postponement of the Newborn Hearing Screening during the COVID-19 Pandemic; Parental Experiences and Worries
• Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?
• Prophylactic zoledronic acid therapy to prevent or modify Paget’s disease of bone progression in adults with <em>SQSTM1</em> mutations: the ZiPP RCT
• Reconstructing the ancestral gene pool to uncover the origins and genetic links of Hmong-Mien speakers
• Routine Hearing Screening for Older Adults in Primary Care: Insights of Patients and Clinic Personnel
• T cell activation contributes to purifying selection against the MELAS-associated m.3243A&gt;G pathogenic variant in blood
• 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
• Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss
• TBC1D24 is likely to regulate vesicle trafficking in glia-like non-sensory epithelial cells of the cochlea
• The (in)visibility of deafness: Identity, stigma, quality of life and the potential role of totally implantable cochlear implants
• The Association Between Mitochondrial tRNA^Glu Variants and Hearing Loss: A Case-Control Study
• The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III
• The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis
• The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene
• The Wolfram-like variant WFS1^E864K destabilizes MAM and compromises autophagy and mitophagy in human and mice
• Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder
• Unveiling a novel GJB2 dominant K22T mutation in a Chinese family with hearing loss
• 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
• Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients
• Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alstrom syndrome: a case report
• Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants