Associated Papers
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
Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.
Werfel L et al.
Kidney International Reports, 2023
Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction.
He J et al.
Frontiers in Genetics, 2023
Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome.
Feng H et al.
Frontiers in Genetics, 2021
[A new pathogenic variation of EYA1 gene in a family with BOR syndrome and the diagnostic exploration].
Wang HH et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2020
Comprehensive analysis of syndromic hearing loss patients in Japan.
Ideura M et al.
Scientific Reports, 2019
EYA1-related disorders: two clinical cases and a literature review.
Castiglione A et al.
International Journal of Pediatric Otorhinolaryngology, 2014
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.
Usami S et al.
Plos One, 2012
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