Associated Papers
Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.
Yalcouyé A et al.
Hgg Advances, 2025
Prenatal Phenotypic Analysis of Branchio-Oto-Renal Spectrum Disorder Attributable to EYA1 Gene Pathogenic Variants and Systematic Literature Review.
Tian Y et al.
Prenatal Diagnosis, 2024
A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family.
Yalcouyé A et al.
Molecular Genetics & Genomic Medicine, 2022
Comprehensive analysis of syndromic hearing loss patients in Japan.
Ideura M et al.
Scientific Reports, 2019
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
Miyagawa M et al.
Plos One, 2013
23967202 (PubMed )
Supplement: pone.0071381.s004.pdf
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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