• A Bilateral, Non-syndromic, Type III Second Branchial Arch Sinus in a Neonate: a Case Report
• A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss
• A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3
• A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family
• A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome
• A new point mutation (D1158N) in histidine kinase Bos1 confers high-level resistance to fludioxonil in field gray mold disease
• A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans
• A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred
• A true branchial fistula in the context of branchiootic syndrome: challenges of diagnosis and management
• Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review
• Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13
• Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8
• Branchio-otic syndromes imbroglio
• Branchiootic syndrome--a clinical case report and review of the literature
• Branchiootorenal Spectrum Disorder
• Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement
• Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction
• Coexisting first and bilateral second branchial fistulas in a child with nonfamilial branchio-otic syndrome
• Combined hamartoma of the retina and retinal pigment epithelium in branchio-otic syndrome
• Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development
• Developmental expression patterns of candidate cofactors for vertebrate six family transcription factors
• Ectopic expression of BOTRYTIS SUSCEPTIBLE1 reveals its function as a positive regulator of wound-induced cell death and plant susceptibility to Botrytis
• EYA1-related disorders: two clinical cases and a literature review
• Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
• Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene
• Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing
• Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications
• HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome
• Identification and Characterization of a Cryptic Genomic Deletion-Insertion in <em>EYA1</em> Associated with Branchio-Otic Syndrome
• Identification and genetic analysis of new mutations in <em>EYA1</em> gene of BOS syndrome
• Identification of ANLN as a new likely pathogenic gene of branchio-otic syndrome in a three-generation Chinese family
• Machine Learning Analysis Reveals Biomarkers for the Detection of Neurological Diseases
• Microarray identification of novel genes downstream of Six1, a critical factor in cranial placode, somite, and kidney development
• Molecular Genetic Etiology and Revisiting the Middle Ear Surgery Outcomes of Branchio-Oto-Renal Syndrome: Experience in a Tertiary Referral Center
• Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome
• New' manifestations of BOR syndrome
• Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family
• Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis
• Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea
• Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1
• SIX1 gene: absence of mutations in children with isolated congenital anomalies of kidney and urinary tract
• SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
• Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development
• Targeted next-generation sequencing identifies a novel frameshift EYA1 variant causing branchio-otic syndrome in a Chinese family
• The Uso1 globular head interacts with SNAREs to maintain viability even in the absence of the coiled-coil domain
• Unexpected role of <em>SIX1</em> variants in craniosynostosis: expanding the phenotype of <em>SIX1</em>-related disorders
• Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?