Kyoko Nagai

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns

Tomohiro Oguchi, Akihiro Ohtsuka, Shigenari Hashimoto et al. · Journal of Human Genetics · 2005 · 89 citations · Full text

Genetic Disorder, Genetics, Audiology +9

Clinical characteristics and genotype–phenotype correlation of hearing loss patients with<i>SLC26A4</i>mutations

Hiroaki Suzuki, Aki Oshima, Koji Tsukamoto et al. · Acta Oto-Laryngologica · 2007 · 64 citations

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients

Yoh-ichiro Iwasa, Shin‐ya Nishio, Akiko Sugaya et al. · PLoS ONE · 2019 · 47 citations · Full text

Genetics, Pathology, Molecular Genetics +19

Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

Hidekane Yoshimura, Satoshi Iwasaki, Shin‐ya Nishio et al. · PLoS ONE · 2014 · 43 citations · Full text

Sequencing, Mendelian Disorder, Genetic Disorder +13

OTOF mutation screening in Japanese severe to profound recessive hearing loss patients

Yoh-ichiro Iwasa, Shin‐ya Nishio, Hidekane Yoshimura et al. · BMC Medical Genetics · 2013 · 43 citations · Full text