• <em>PTPN11</em> and the deafness
• A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness
• A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish
• A phase 3 randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome
• A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome
• A Possible Incomplete Form of Treacher Collins Syndrome: A Case Report
• Analysis of clinical audiological characteristics in 868 children referred from maternal and child institutions
• Association of Hearing Loss and Otologic Outcomes With Fibrous Dysplasia
• Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder
• Bonebridge Implantation in Treacher-Collins Syndrome With Conductive Hearing Loss-Case Report
• Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry
• Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings
• Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in <em>COL11A2</em>
• Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2
• CHARGE syndrome and related disorders: a mechanistic link
• CHARGE syndrome gastrointestinal involvement: from mouth to anus
• CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations
• CHARGE syndrome: genetic aspects and dental challenges, a review and case presentation
• CHARGEd with neural crest defects
• CHD7 regulates craniofacial cartilage development via controlling HTR2B expression
• CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development
• Chemical screens in a zebrafish model of CHARGE syndrome identifies small molecules that ameliorate disease-like phenotypes in embryo
• Chromatin remodeler CHD7 regulates the stem cell identity of human neural progenitors
• Chromatin remodeler CHD7 targets active enhancer region to regulate cell type-specific gene expression in human neural crest cells
• Chromosome 11q13 deletion syndrome
• Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations
• Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants
• Conductive hearing loss in newborns: Hearing profile, risk factors, and occasions of service
• Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases
• Craniosynostosis is a feature of CHD7-related CHARGE syndrome
• De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
• De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness
• Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
• Diagnosis and treatment of otitis media with effusion: CODEPEH recommendations
• Disentangling the complex landscape of sleep-wake disorders with data-driven phenotyping: A study of the Bernese center
• Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome
• DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
• Dominant Stickler Syndrome
• DOOR syndrome: A case report and its embryological basis
• Dystonia-Deafness Syndrome: <em>ACTB</em> Pathogenic Variant in an Argentinean Family
• Dystonia-Deafness Syndrome: ACTB Pathogenic Variant in an Argentinean Family
• Effects of Sequential Bilateral Cochlear Implantation in Children: Evidence from Speech-Evoked Cortical Potentials and Tests of Speech Perception
• Exome sequencing identifies <em>PEX6</em> mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment
• Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome
• Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response
• Frequency Of Congenital Hearing Loss In Neonates
• Genetic analysis of CHARGE syndrome identifies overlapping molecular biology
• Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes
• Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss
• Genetic factors in isolated and syndromic laryngeal cleft
• Genodermatoses with hearing impairment
• Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum
• Hearing Loss in Stickler Syndrome: An Update
• Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome
• Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis
• IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing
• Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review
• Kleefstra Syndrome with Severe Sensory Neural Deafness and &lt;em&gt;De Novo&lt;/em&gt; Novel Mutation
• Kleefstra Syndrome with Severe Sensory Neural Deafness and <em>De Novo</em> Novel Mutation
• Maternal and child predictors associated with loss to follow-up in the newborn hearing screening program: a cohort study in maternity hospitals in northeastern Brazil
• Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells
• Molecular mechanisms of hearing loss in Nager syndrome
• Monodactyly in a patient with CHARGE syndrome: An additional case report
• Morphological and sensorimotor phenotypes in a zebrafish CHARGE syndrome model are domain-dependent
• Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
• Myhre syndrome: expanding its paediatric phenotypic spectrum
• New ocular finding in Baraitser-Winter syndrome (BWS)
• Occipital teratoma in a neonate with CHARGE syndrome: a case report
• Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness
• Overexpression of p53 explains isotretinoin's teratogenicity
• Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins
• Pathogenic Variants in GPC4 Cause Keipert Syndrome
• Perioperative Care of a Patient With Waardenburg Syndrome
• Pervasive cortical and white matter anomalies in a mouse model for CHARGE syndrome
• Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India
• PIGF deficiency causes a phenotype overlapping with DOORS syndrome
• Plerixafor for the Treatment of WHIM Syndrome
• Prevalence of pharmacogenomic variants affecting the efficacy of clopidogrel therapy in the Hispanic Community Health Study/Study of Latinos cohort
• Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome
• PTPN11 and the deafness
• Rescue of neural crest-derived phenotypes in a zebrafish CHARGE model by Sox10 downregulation
• Sema3E is required for migration of cranial neural crest cells in zebrafish: Implications for the pathogenesis of CHARGE syndrome
• Sicca Syndrome Associated with Immune Checkpoint Inhibitor Therapy
• Spectrum of PEX1 and PEX6 variants in Heimler syndrome
• Spliceosomopathies and neurocristopathies: Two sides of the same coin?
• Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the <em>DLX5/6</em> Genes
• Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes
• Support for the Diagnosis of CHARGE Syndrome
• Synergistic role of retinoic acid signaling and Gata3 during primitive choanae formation
• The CHARGE syndrome ortholog CHD-7 regulates TGF-beta pathways in Caenorhabditis elegans
• The CHARGE syndrome ortholog CHD-7 regulates TGF-β pathways in <em>Caenorhabditis elegans</em>
• The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons
• The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature
• The role of internalised HIV stigma in disclosure of maternal HIV serostatus to children perinatally HIV-exposed but uninfected: a prospective study in the United States
• TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
• Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers
• Variants in <em>PHF8</em> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
• Ventilation tubes (grommets) for otitis media with effusion (OME) in children
• X-linked elliptocytosis with impaired growth is related to mutated AMMECR1
• Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis