• A child with branchio-oto-renal spectrum disorder carrying an SIX1 variant
• A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome
• A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss
• A Heterozygous Novel Mutation in <em>TFAP2A</em> Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report
• A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report
• 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 neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review
• A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome
• A new pathogenic variation of <em>EYA1</em> gene in a family with BOR syndrome and the diagnostic exploration
• A new pathogenic variation of EYA1 gene in a family with BOR syndrome and the diagnostic exploration
• A new point mutation (D1158N) in histidine kinase Bos1 confers high-level resistance to fludioxonil in field gray mold disease
• A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome
• A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency
• A Perihilar Variant of Focal Segmental Glomerulosclerosis Due to De novo Branchio-oto-renal Syndrome
• A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling
• A Rare Case of Branchio-oculo-facial Syndrome: Clinical and Histopathological Features
• An infant with congenital heart defects and proteinuria: a case report
• ASD with the Bor Syndrome: A Case Report
• Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene
• Body Composition in Early Pubescent Children with Obesity: Effects Following 1 Year of Non-Intervention
• Body composition in early pubescent children with obesity: effects following 1 year of nonintervention
• Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review
• Branchio-oculo-facial syndrome with bilateral postauricular aplasia cutis
• Branchio-oculo-facial syndrome: a case of novel variation of TFAP2A gene
• Branchio-oto-renal syndrome or branchio-oto syndrome: the clinical and genetic analysis in five Chinese families
• Branchiootorenal syndrome: A case report
• Clinical features and temporal CT findings in patients with Branchio-Oto-Renal or Branchio-Oto Syndrome
• Clinical phenotypic and genetic analysis of syndrome families with EYA1 gene variants
• Cochlear implantation in Branchiootorenal syndrome - case report and review of the literature
• Congenital anomalies of the external ear
• CRISPR-based editing strategies to rectify <em>EYA1</em> complex genomic rearrangement linked to haploinsufficiency
• Dysfunction of programmed embryo senescence is linked to genetic developmental defects
• Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2
• Ectopic expression of BOTRYTIS SUSCEPTIBLE1 reveals its function as a positive regulator of wound-induced cell death and plant susceptibility to Botrytis
• Embryology, Pharyngeal Pouch
• Embryology, Pharyngeal Pouch
• Emphasizing the application of genetic diagnosis in branchio-oto-renal syndrome
• EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families
• From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report
• Generation of a new six1-null line in Xenopus tropicalis for study of development and congenital disease
• Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene
• Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome
• Genetic characteristics of microtia-associated syndromes in neonates
• Genetic research progress in branchio-oto syndrome/ branchio-oto-renal syndrome
• Genomic Landscape of Branchio-Oto-Renal Syndrome through Whole-Genome Sequencing: A Single Rare Disease Center Experience in South Korea
• Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance
• Hypospadias as a New Entity to Define the Branchio-Oto-Renal Spectrum Disorders
• Identification and Characterization of a Cryptic Genomic Deletion-Insertion in <em>EYA1</em> Associated with Branchio-Otic Syndrome
• Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome
• Identification and functional study of enhancers of EYA1, the causative gene of branchio-oto-renal syndrome
• Identification and genetic analysis of new mutations in <em>EYA1</em> gene of BOS syndrome
• Identification and genetic analysis of new mutations in EYA1 gene of BOS syndrome
• Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy
• Identification of ANLN as a new likely pathogenic gene of branchio-otic syndrome in a three-generation Chinese family
• Imaging Findings in Syndromes with Temporal Bone Abnormalities
• Inherited glomerular diseases in the gilded age of genomic advancements
• Kidney surface development in human fetuses: study applied to radiological diagnosis
• Mcrs1 interacts with Six1 to influence early craniofacial and otic development
• Mcrs1 is required for branchial arch and cranial cartilage development
• Membranous Labyrinth Dysplasia in Branchio-Oto-Renal Syndrome
• Microtia and Related Facial Anomalies
• Misdiagnosed Branchio-Oto-Renal syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood: a report of three cases
• Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs
• Molecular Genetic Etiology and Revisiting the Middle Ear Surgery Outcomes of Branchio-Oto-Renal Syndrome: Experience in a Tertiary Referral Center
• Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models
• Multimodal Imaging of Large Optic Disc Coloboma: A Report of Three Cases
• Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports
• Mutations in SIX1 Associated with Branchio-oto-Renal Syndrome (BOR) Differentially Affect Otic Expression of Putative Target Genes
• Novel duplication mutation of <em>EYA1</em> causes branchio-oto-renal syndrome in a Chinese family
• Novel duplication mutation of EYA1 causes branchio-oto-renal syndrome in a Chinese family
• Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms
• Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome
• Ocular manifestations in a family with brachio-oculo-facial syndrome
• Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis
• PAX1 is essential for development and function of the human thymus
• Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome
• Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea
• Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report
• Prenatal diagnosis of a case with Branchi-oto-renal syndrome
• Punctal Atresia As a Clinical Indicator of Systemic Genetic Anomalies
• Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation
• Research progress of congenital preauricular fistula
• Second branchial cleft anomalies in children: a literature review
• Shared features in ear and kidney development - implications for oto-renal syndromes
• Six1 and Six2 of the Sine Oculis Homeobox Subfamily are Not Functionally Interchangeable in Mouse Nephron Formation
• Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development
• Sobp modulates the transcriptional activation of Six1 target genes and is required during craniofacial development
• Targeted next-generation sequencing identifies a novel frameshift EYA1 variant causing branchio-otic syndrome in a Chinese family
• TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway
• TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome
• The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns
• The Eyes Absent proteins in development and in developmental disorders
• The interconnected relationships between middle ear bulla size, cavitation defects, and chronic otitis media revealed in a syndromic mouse model
• The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome
• Transcriptomic analysis reveals the role of SIX1 in mouse cranial neural crest patterning and bone development
• Transmastoid access in branchio-oto-renal syndrome: A reappraisal of computed tomography imaging
• UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate
• Use of lacosamide for focal epilepsy in a child with kidney failure undergoing peritoneal dialysis
• Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes