GATA2 Deficiency Syndrome: A Case Series and Literature Review.

Ophthalmic, Systemic and Genetic Features in Wolfram Syndrome.

The landscape of gene mutations in a cohort of 3353 Han Chinese children with nonsyndromic hearing loss.

The New Wave of Gene and Cell Therapies Across Diseases.

Description of the novel variant c.784delG;p. (Ala262Profs*68) at BSND gene and its association with Bartter Syndrome Type Iva.

Vestibular function prior to cochlear implantation in patients with non-syndromic hearing loss caused by CDH23 mutations: a retrospective case series.

The development of inner ear gene therapy for DFNB9: From bench to bedside.

[Identification and functional analysis of a novel variant of CHD23 gene in a Chinese pedigree affected with Non-syndromic autosomal recessive deafness 12].

Clinical phenotypes and cochlear implant outcomes in patients with PTPN11-associated noonan spectrum disorders: Insights from a genetically screened cohort.

Case Report: Dominant deafness-onychodystrophy syndrome and hypokalemic periodic paralysis in a single patient: a rare syndromic overlap.

Case Report Series: Genetic and clinical characterization of long QT syndrome in admixed Ecuadorian patients and its implications for sudden cardiac death risk.

Patient-derived TWNK variants recapitulate multisystem Perrault syndrome pathology in a mouse model.

Generation of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene.

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.

Delayed diagnosis of Waardenburg syndrome type 1 in a Syrian adult: Challenges and lessons from resource-limited settings, a case report and literature review.

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.

Unexpected severe hypercalcemia in a 6-year-old child with hypoparathyroidism and feeding difficulties.

N-Cadherin Dynamically Regulates Schwannoma Migration and Represents a Novel Therapeutic Target in NF2-Related Schwannomatosis.

Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.

NLRP3 Inflammasome Role and NLRP3 Inhibitors in Sensorineural Hearing Loss.

Genotype-Phenotype Heterogeneity Among Patients with Lipodystrophy Harboring Rare POLD1 Variants.

From Sound to Stability: Lessons Learned From the CRUSH Study on Hearing Loss Progression and Vestibular Phenotype in Usher Syndrome Type 2A.

Neuropsychiatric sequelae in sporadic viral encephalitis.

Analysis of combined screening results of the hearing and deafness genes in 10,754 newborns.

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.

A novel tRNASer(AGY) 12244G > a variant impairs mitochondrial function and presents with classical MELAS phenotype.

Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.

Abnormal iron homeostasis mediates cochlear hair cell impairment and hearing loss in Gprasp2-deficient mice.

Routine Fundoscopy Uncovering Wolfram Syndrome in a Diabetic Patient: A Case Report.

Myosin 7a is required for maintaining the transducing stereocilia and for force transmission to the MET channel during cochlear hair cell development.

[Analysis of clinical diagnosis, treatment, and pathogenic variants of hypoparathyroidism- sensorineural deafness-renal dysplasia (HDR) syndrome].

[Incomplete penetrance of SOX10 gene mutation in a family with Waardenburg syndrome type Ⅳ].

Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients.

Successful Use of Adalimumab for Dissecting Cellulitis in a Pediatric Patient With Keratitis-Ichthyosis-Deafness (KID) Syndrome.

Two-step voltage-sensor activation of the human KV7.4 channel and effect of a deafness-associated mutation.

Cryopyrin-associated periodic syndrome: Understanding late diagnosis in adults from a French cohort.

Biomarking MELAS with neurofilament light chain and circulating cell free mitochondrial DNA.

A porcine congenital deafness model with unconditional knockout of GJB2 generated by CRISPR/Cas9 genomic editing.

Single cell analysis of developing Merkel cells reveals the emergence of non-coding RNA biotypes as a hallmark of terminal differentiation.

Natural History of Sensorineural Hearing Loss in Children With STRC Mutations.

A novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report.

Dysregulation of Serpinb6a-Gch1 axis contributes to DFNB91 deafness that is amendable to gene therapies.

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis.

Dual Genetic Diagnosis of Prader-Willi Syndrome and TMC1-Related Severe Congenital Hearing Loss: Diagnostic Challenges and Cochlear Implant Outcomes.

GJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss.

Identification and characterization of a novel p. S390C variant in TMC1 in an autosomal recessive family with non-syndromic hearing loss.

Potential role of MRI to optimize clinical trial design for progressive supranuclear palsy and corticobasal degeneration.

Compensatory Interplay Between Clarin-1 and Clarin-2 Deafness-Associated Proteins Governs Phenotypic Variability in Hearing.

Overlap of Congenital Deafness and Long QT Syndrome With Distinct Genetic Basis: A Diagnostic Challenge.

Cochlear Implantation Via Extended Endaural Incision in a Patient With Congenital Ear Malformation.

ATP6V1C1 deficiency impairs auditory and vestibular hair cell function and leads to sensorineural hearing loss in humans and mice.

Generation of induced pluripotent stem cells from a patient with CHARGE syndrome with athymia, harboring a heterozygous mutation in CHD7.

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.

Rapidly progressive sensorineural hearing loss due to sporadic Creutzfeldt-Jakob disease.

A novel CLPP variant in a Pakistani family with Perrault syndrome associated with recurrent fevers.

Acoustically Evoked Short Latency Negative Response and Vestibule Function in Patients With Enlarged Vestibular Aqueduct.

Feeding-Triggered Seizures in a Newborn with AP1S1-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare Disease.

Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient.

GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.

A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F.

Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.

Approach to the Patient: Mitochondrial Diabetes: Contemporary Cases and a Precision Medicine Approach.

A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement.

Auditory genotype-phenotype correlation of patients with variants in STRC.

Hypoglycemic Encephalopathy With Multisystem Organ Dysfunction in an Infant With MEGD(H)EL Syndrome.

Novel homozygous pathogenic AP1B1 variant in autosomal recessive keratitis-ichthyosis-deafness syndrome treated with acitretin.

[Genetic analysis of four children with CHARGE syndrome and a literature review].

Deep brain stimulation in dystonia-deafness syndrome with TIMM8A mutation.

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.

Optic Atrophy Predominant WFS1 Disorder-A Case-Control Study.

Comprehensive genetic screening of in vitro fertilized embryos using preimplantation genetic testing for monogenic gene disorders via the Sanger sequencing technique.

Novel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism.

IDEDNIK syndrome: a newly recognized rare genetic disorder caused by AP1S1 and AP1B1 mutations.

[VEXAS syndrome mimicking relapsing polychondritis: A case report].

Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome.

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.

Generation of a human induced pluripotent stem cell line from a CHARGE syndrome patient with CHD7 mutation (c.3982C>T).

Mitochondrial DNA A3243G variant: Current perspectives and clinical implications.

Neurovascular compression and vestibular compromises in idiopathic sudden sensorineural hearing loss.

ACTB-associated dystonia-deafness syndrome with good response to DBS GPi revisited.

Chudley-McCullough syndrome: A report of a rare syndromic sensorineural hearing loss.

GATA2 deficiency in an adult with alveolar proteinosis, infections, lymphadenopathy with granulomatosis, and immune deficiency: case report.

Hyperglycemic Hyperosmolar State as the Initial Presentation of Wolfram Syndrome: A Common Complication Revealing a Rare Disease-A Case Report.

A truncated CDC14A retains catalytic structure and phosphatase activity preserving male fertility but causes nonsyndromic deafness.

Whole-Exome Sequencing Identified a Nonsense Pathogenic Variant in the MITF Gene Associated with Non-syndromic Hearing Loss.

A Rare Case of Wolfram Syndrome in a 27-Year-Old Male From Nepal.

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

Mitochondrial Macular Dystrophy-A Case Report and Mini Review of Retinal Dystrophies.

Clinical Findings and Molecular Genetics of USH1C-Associated Usher Syndrome.

New CHARGE Syndrome Mouse Models Reveal the Contribution of the Enzymatic Activity of CHD7 in Pathogenesis.

Variable Schwann cell merlin inactivation is targetable with TEAD1 inhibition in schwannomas.

Calcium blockers protect against sensory epithelial damage and hearing loss in Cx26-cKO mice.

Altered Pore Composition and Flexibility in a Deafness-Associated TMC1 Variant: Insights from Molecular Dynamics Simulations.

Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity.

Analysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation.

Vestibular schwannoma presenting as vestibular neuritis-like attack during the COVID-19 pandemic: A case report.

Determination of carriers of deafness-infertility syndrome in Peru.

Cutaneous Vegetating Candidiasis in Keratitis-Ichthyosis-Deafness Syndrome.

A rare case of H syndrome with severe multisystem involvement: Clinical challenges in low-resource healthcare settings.

Study Models for Non-Syndromic Hearing Loss.

De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review.

Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein-protein interactions.

Indications and timings for caffeine initiation in preterm infants.

Copper in Human Health and Disease: Insights from Inherited Disorders.

Jervell and Lange-Nielsen Syndrome Manifesting as Seizure-Like Episodes in Childhood.

Epidemiological and genetic insights of Usher syndrome in Turkish population: A cross-sectional preliminary study from University of Health Sciences, Turkey.

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome.

Cochlear Implantation in Alport Syndrome: A Novel Case Series.

Association of Waardenburg syndrome with a new mutation in the PAX3 gene: A case report and literature review.

A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene.

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes.

Compound heterozygous variants in PCDH15 non-coding regions in an Usher Syndrome Type 1F patient: minigene assay reveals pathogenicity of c.3123-1G>C.

Longitudinal Developmental Outcomes of Children With Prelingual Single-Sided Deafness With and Without a Cochlear Implant and Recommendations for Follow-Up.

[Congenital hearing loss in children].

Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.

FITM2-Related Siddiqi Syndrome in Two Iranian Siblings.

Early subtypes and progressions of progressive supranuclear palsy: a data-driven brain bank study.

Novel predictors of Alzheimer's disease in Down syndrome identified using machine learning.

Cranial osteomyelitis in a patient with KID syndrome: Importance of thorough investigation in chronic wounds.

Transcriptome profiling of human dermal MDPL fibroblasts reveals a characteristic molecular signature providing insights into pathogenic mechanisms.

Prevalence of Dysautonomic Symptoms in CHARGE Syndrome: A Pilot Study of 25 Individuals With CHARGE Syndrome.

Diabetes Insipidus as an Early Clinical Indicator of Wolfram Syndrome Type 1: Evidence From a Symptom-Based Screening Approach.

A sound vision: MYO7A gene therapy reaches the inner ear.

LOXHD1b knockout alters swimming behavior in zebrafish.

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

Long-Term Renal Transplant Success Is Possible in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome: A Case Report.

Identification of a variant in the USH1G gene in a family with Usher syndrome.

Leukemoid Reaction and Sudden Hearing Loss in Early Cervical Cancer: A Case Report and Review of the Literature.

Cognitive-Developmental Mechanisms in Hallucinations.

NLRP3 inflammasome and hearing loss: from mechanisms to therapies.

Gain-of-function variants in IRF6 cause hidradenitis suppurativa, ectodermal dysplasia and deafness syndrome.

Leveraging underrepresented population data improves interpretation of genetic variants associated with hearing loss.

An Unusual Presentation of Barakat Syndrome: Gene Deletion at Chromosome 10p15.

Adeno-associated virus-based rescue of Myo7a expression restores hair-cell function and improves hearing thresholds in a USH1B mouse strain.

Circadian Rhythm and Psychiatric Features in Wolfram Syndrome: Toward Chrono Diagnosis and Chronotherapy.

Rare features in Feingold syndrome type 1.

Case Report: Rapid cataract development preceding diabetes mellitus in WFS1 spectrum disorder.

AAV-mediated exon skipping therapy for Usher syndrome, type 2A.

Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects.

The predawn dilemma in adeno-associated virus-based gene therapies for hereditary deafness.

Exon Skipping Therapy Restores Ciliary Function in USH2A-Related Retinal Degeneration.

Optimized in vivo base editing restores auditory function in a DFNA15 mouse model.

Type of Primary Surgery and Postoperative Velopharyngeal Function in Patients With Submucous Cleft Palate at 3 years and Older.

Discovery of a Novel CHD7 CHARGE Syndrome Variant (c.502C>T) by Prenatal Diagnostic Analysis: A Case Report.

Could R-Ketamine and Wolfram Syndrome Inform Understanding of Depression and Suicidality? A Sigma-1 Receptor-Based Perspective.

Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China.

Mutation Spectrum of GJB2 in Taiwanese Patients with Sensorineural Hearing Loss: Prevalence, Pathogenicity, and Clinical Implications.

Hummingbird sign in a patient with DNMT1-related disorder.

A case of HDR syndrome with recurrent matured ovarian teratomas.

Diabetes and optic atrophy in a young adult: consider Wolfram syndrome.

Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.

Serotonergic receptor binding in the brainstem in the Sudden Infant Death Syndrome in a high-risk population.

A 14-Year-Old Male Patient With Bone Marrow Failure Syndrome, Without Deafness, Caused by a Novel SRP72 Mutation Inherited From His Father: A Case Report.

Proinflammatory phenotype can be critical in defining and modulating the genetic risk of non-syndromic hearing loss.

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family.

Engineered virus-like particles for in vivo gene editing ameliorate hearing loss in murine DFNA2 model.

Cochlear implantation in patients with keratitis-ichthyosis-deafness syndrome: A systematic review.

Hypodontia in a child with keratitis-ichthyosis-deafness (KID) syndrome: a case report.

Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome.

Retinal multimodal-imaging and functional tests in a mitochondrial disease with focal and segmental glomerulosclerosis.

Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

Disseminated Mycobacterium abscessus Infection in a Three-Year-Old Girl With CHARGE Syndrome: A Case Report and Literature Review.

WFS1 gene mutation associated with pediatric diabetes mellitus and congenital deafness: A case report.

The TECTB-C225Y Variant Causing Autosomal Dominant Deafness in a Nicaraguan Family Enhances Sensitivity to Noise-Induced Hearing Loss in Mice.

MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity.

[Keratitis-ichthyosis-deafness syndrome: diagnostic challenges and treatment options for secondary infections].

Expanding the Epidemiological and Phenotypic Spectrum of MEGDEL Syndrome: The First Case Report From Egypt.

Treatment of Epidermal Pathology in a Pediatric Patient With Keratitis-Ichthyosis-Deafness (KID) Syndrome With Topical Mefenamic Acid.

Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea.

NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.

Progression of Dark-Adapted Visual Fields Over 3 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) Study.

Case Report: A Chinese family with MYH9-RD caused by MYH9 p.E1841K mutation exhibiting widespread may-hegglin inclusions.

Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.

Topology of WFS1 Variants Linked With Islet Function and Higher Risk of Urological Symptoms in WFS1-Associated Disease.

WFS1 Gene Mutation (c.2389G > A) Induces Immune Disorders by Promoting DC Maturation through Inhibition of TMEM176A.

[Analysis of a neonate with Hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome and a literature review].

Expanding the Clinical Phenotype Associated with the NIN Gene; Report of a Patient with Short Stature, Microcephaly and Hearing Loss.

[Genetic and clinical phenotypic analysis of Usher syndrome-associated gene variants].

Extracellular Matrix: Alport Syndrome.

Ciliopathy: Usher Syndrome.

Cochlear implantation in Childhood Ataxia with Central nervous system Hypomyelination Syndrome.

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.

A Hybrid Sequential Feature Selection Approach for Identifying New Potential mRNA Biomarkers for Usher Syndrome Using Machine Learning.

Ophthalmologic management in KID syndrome: Long-term clinical experience.

Inherited Lipodystrophy Associated With POLD1 and CAVIN1 Mutations: Two Cases From the Indian Subcontinent.

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation.

Identification of Novel USH2A Mutations in a Consanguineous Chinese Family With Usher Syndrome.

TWNK gene pathogenic variant and Perrault syndrome.

Keratitis, Ichthyosis, and Deafness Syndrome with Endocarditis and Myelitis: A Rare Case Report.

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.

Systematic phenotype and genotype characterization of Moebius syndrome.

Pediatric Usher Syndrome Type 2A with Coexisting Rheumatic Heart Disease and Upper Gastro-Intestinal Bleed: A Case Report.

De Novo Heterozygous GATA3 Missense Variant Causes an Unexpected Phenotype of Non-Syndromic Hearing Impairment with Apparently Recessive Inheritance.

Low level of expression of known deafness genes Kcne1, Kcnj10 or Col4a3 is sufficient to maintain hearing in mice.

Characterization of Novel WFS1 Variants in Three Diabetes Pedigrees.

Genotype-Phenotype Correlations, Mortality, and Clinical Insights in Keratitis-Ichthyosis-Deafness Syndrome: A Comprehensive Review and Case Report.

Liquid-Liquid Phase Separation in Hereditary Hearing Loss.