Associated Papers
The Diverse Genetic Landscape of Hearing Impairment in South African Families.
Bharadwaj T et al.
Clinical Genetics, 2025
CRISPR-based editing strategies to rectify EYA1 complex genomic rearrangement linked to haploinsufficiency.
Yi H et al.
Molecular Therapy. Nucleic Acids, 2024
38766525 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms.
Zhang H et al.
Bmc Medical Genomics, 2024
A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application.
Chen A et al.
Clinical and Experimental Otorhinolaryngology, 2023
Comprehensive analysis of syndromic hearing loss patients in Japan.
Ideura M et al.
Scientific Reports, 2019
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?
Kause F et al.
Molecular Medicine Reports, 2018
A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.
Stockley TL et al.
American Journal of Medical Genetics. Part A, 2009
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