Pre-operative High-Resolution CT and MRI Evaluation in Pediatric Cochlear Implant Candidates: Correlation With Surgical Findings and Outcomes.

PRPS1 (p.V42L) Mutation in Arts Syndrome Induces Aberrant Neural Stem Cell Development and Neuronal Senescence-Like Phenotype: Rescue by Nicotinamide Mononucleotide Supplementation.

The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.

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

Audiovestibular Dysfunction Related to Long COVID-19 Syndrome: A Systematic Review of Characteristics, Pathophysiology, Diagnosis, and Management.

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

A pediatric case of diphthamide biosynthesis 1 gene defect presenting with developmental delay, short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome): a case report.

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

Expanding the Phenotype of Syndromic SLC30A9 -Associated Disease.

Audiovestibular Dysfunction in Hyper-IgE Syndrome: A Systematic Review of Characteristics, Pathophysiology, Diagnosis, and Management.

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

Outcomes of Maintenance Immunotherapy in a Cohort of Patients With Susac Syndrome: A 2-Center Large Case Series.

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Over 30 Years of Neonatal Respiratory Extracorporeal Membrane Oxygenation From a Regional Program.

Bilateral vestibular hypofunction in children.

[Clinical phenotype and genotypic analysis of a four-generation Chinese pedigree affected with Stickler syndrome and a literature review].

Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.

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

Cochlear implantation in children with Bartter syndrome: A case report.

Evidence of an unprecedented cytoplasmic function of DDX11, the Warsaw breakage syndrome DNA helicase, in regulating autophagy.

Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations.

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.

Study on Conductive Hearing Loss in Children with Down Syndrome.

Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Prevalence and Clinical Characteristics of OTOGL-Associated Hearing Loss Identified in a Cohort of 7065 Japanese Patients with Hearing Loss.

Comparison of vHIT deficits with Ramsay Hunt syndrome with dizziness, vestibular neuritis, and idiopathic sudden sensorineural hearing loss with vertigo.

Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome.

Glutamate metabolism disruption in Johanson-Blizzard syndrome: Insights from C. elegans ubr-1 model.

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.

Novel OTOG Variants and Clinical Features of Hearing Loss in a Large Japanese Cohort.

Genetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature review.

Rethinking speech sound disorder (SSD) in non-syndromic cleft lip and palate: The importance of recognizing phonological and language difficulties.

Susac's Syndrome: A Tale of Disability Due to Late Recognition.

Genetic Diagnostics and Phenotypic Profiling of a Girl With Autosomal Recessive Intellectual Developmental Disorder and Autism.

Clinical Characterization and Prognostic Risk Factors of Susac Syndrome: A Retrospective Multicenter Study.

Johanson-Blizzard syndrome with cystic dilation of the cochlea and hypoplastic modiolus: a case report.

Ocular findings in Baraitser-Winter syndrome with a de novo mutation in the ACTG1 gene: a case report.

Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene.

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants.

Neurological manifestations in adult patients with the m.3243A>G variant in mitochondrial DNA.

Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations.

Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.

Cochlear implantation in syndromic patients: difficulties and lessons learnt.

Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III.

Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene.

Identification of novel variants in BRF1 gene from patient with developmental delay, hearing abnormality, and nervous system anomalies.

Johanson-Blizzard syndrome caused by novel UBR1 mutation in four Saudi patients.

Massive pericardial effusion in an infant with Aymé-Gripp syndrome: A case report and review of the literature.

Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review.

Resolution of severe neurobehavioral difficulties in an individual with Primrose syndrome with sertraline.

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.

Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss or Deafness.

Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.

An Infant With Primrose Syndrome: A Case Report.

Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.

Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy.

Paediatric Cogan Syndrome masquerading as IgA vasculitis.

Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.

What General Neurologists Should Know about Autoinflammatory Syndromes?

An atypical Aymé-Gripp phenotype detected by exome sequencing.

Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient.

Why should multiple dehiscences of the otic capsule be considered before surgically treating patients with superior semicircular canal dehiscence? A radiological monocentric review and a case series.

Susac syndrome: neurological update (clinical features, long-term observational follow-up and management of sixteen patients).

Benefit of high-dose oral riboflavin therapy in riboflavin transporter deficiency.

Imaging Guide to Inner Ear Malformations: An Illustrative Review.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.

[Clinical features and genetic analysis of a child with EAST/SeSAME syndrome].

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

Behavioral Impairment and Amnesia at the Onset of Susac Syndrome.

Generation and mutational analysis of a transgenic murine model of the human MAF mutation.

Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome.

Cogan's syndrome is more than just keratitis: a case-based literature review.

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

Evaluation of a Less Invasive Cochlear Implant Surgery in OPA1 Mutations Provoking Deafblindness.

Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series.

The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review.

A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome.

Low dose TGF-β1 can improve vohwinkel syndrome by promoting the proliferation of keratinocytes.

[Epilepsy syndromes associated with hearing loss].

Griscelli syndrome type 1: a novel pathogenic variant, and review of literature.

Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.

[Analysis of a child with Johanson-Blizzard syndrome due to novel compound heterozygous variants of UBR1 gene].

Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss.

Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Radiological Findings of Woodhouse-Sakati Syndrome: Cases Reported From Saudi Arabia.

Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy.

Broadening the genotypic and phenotypic spectrum of MAF in three Chinese Han congenital cataracts families.

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.

Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome.

Influence of Metabolic Syndrome on the Recovery from Idiopathic Sudden Sensorineural Hearing Loss.

Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.

An Ethical Analysis of Newborn Congenital Cytomegalovirus Screening.

EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.

Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.

Identification of a novel microdeletion causative of Nance-Horan syndrome.

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.

[Identifications of the novel mutants on MYO7A in a family with non-syndromic hereditary deafness].

Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.

SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.

50 Years Ago in TheJournalofPediatrics: Molecular Diagnostics Determine Underlying Genetic Etiologies for Well-Described Clinical Syndromes.

Rare Clinical Case of Cryopyrin-associated Periodic Syndrome Presented with Ankylosing Spondylitis: A Case Report.

Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux.

A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report.

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.

Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.

Genetically altered animal models for ATP1A3-related disorders.

Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study.

A Chinese Boy with Mowat-Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene.

Benefit of cochlear implantation in a patient with Myhre syndrome.

New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.

Glial-Specific Deletion of Med12 Results in Rapid Hearing Loss via Degradation of the Stria Vascularis.

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.

Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature.

Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition.

Correspondence on "DOORS syndrome and a recurrent truncating ATP6V1B2 variant" by Beauregard-Lacroix et al.

Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2.

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

A Novel Synergistic Association of Variants in PTRH2 and KIF1A Relates to a Syndrome of Hereditary Axonopathy, Outer Hair Cell Dysfunction, Intellectual Disability, Pancreatic Lipomatosis, Diabetes, Cerebellar Atrophy, and Vertebral Artery Hypoplasia.

Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.

New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.

Auditory phenotype of Smith-Lemli-Opitz syndrome.

Ayme gripp syndrome in an Indian patient.

Developmental performance between pediatric cochlear implantation candidates with and without large vestibular aqueduct syndrome.

Diagnosis and patterns of hearing loss in children with severe developmental delay.

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.

PIGF deficiency causes a phenotype overlapping with DOORS syndrome.

Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.

Audiological and otologic manifestations of glutaric aciduria type I.

Basedow-Graves' disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment.

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.

Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation.

Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.

Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: a new case report from Indonesia and review of the literature.

Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous SMARCA4 Deletion Detected by High-Resolution aCGH.

Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.

Sphenoid sinus agenesis and sella turcica hypoplasia: very rare cases of two brothers with Hamamy syndrome.

Reducing the Emergency Department Revolving Door Syndrome for the Poor, Uninsured, and Chronically Ill Patient in Los Angeles: Process Improvement Recommendations from a County Health Program Evaluation.

Impact of breast milk-acquired cytomegalovirus infection in premature infants: Pathogenesis, prevention, and clinical consequences?

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.

Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female.

[Influence of capsular pseudoexfoliation syndrome on hearing loss].

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department.

Unique skeletal manifestations in patients with Primrose syndrome.

Etiology of Childhood Bilateral Sensorineural Hearing Loss in Shandong Province, China.

Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes.

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing.

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion.

Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.

[Susac syndrome - an unusual syndrome which can be mistaken for multiple sclerosis].

Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics.

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.

Associated syndromes in patients with Pierre Robin Sequence.

Cochlear Implantation Outcomes in Children with Agenesis of the Corpus Callosum: A Retrospective Study and A Review of the Literature.

Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent.

Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.

Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy.

A prenatally diagnosed case of Donnai-Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity.

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.

Pancreatic Malnutrition in Children.

Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase.

Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome.

Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.

Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Susac Syndrome: A Rare Case Report.

The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss.

[One case report of Mohr-Tranebjærg syndrome].

[One novel pathologic variation in KMT2D cause Kabuki syndrome with hearing loss as the main phenotype and related research on types of deafness].

Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome.

Maternally inherited MAF variant associated with variable expression of Aymé-Gripp syndrome.

Woodhouse-Sakati Syndrome: First report of a Portuguese case.

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

A case of Coffin-Siris syndrome with severe congenital heart disease and a novel SMARCA4 variant.

POGZ-related epilepsy: Case report and review of the literature.

Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.

Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I.

Severe cryopyrin-associated periodic syndrome first characterized by early childhood-onset sensorineural hearing loss - Case report and literature review.

Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.

A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.

DOOR syndrome: A case report and its embryological basis.

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.

Cornelia De Lange Syndrome and Cochlear Implantation.

Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypes.

Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results.