Kei Mizobuchi

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing

Katsuhiro Hosono, Sachiko Nishina, Tadashi Yokoi et al. · Scientific Reports · 2018 · 55 citations · Full text

Molecular Diagnosis, Mendelian Disorder, Ophthalmology +14

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers

Kentaro Kurata, Katsuhiro Hosono, Takaaki Hayashi et al. · International Journal of Molecular Sciences · 2019 · 38 citations · Full text

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency

Lizhu Yang, Kaoru Fujinami, Shinji Ueno et al. · Scientific Reports · 2020 · 36 citations · Full text

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

Yu Fujinami‐Yokokawa, Kaoru Fujinami, Kazuki Kuniyoshi et al. · Scientific Reports · 2020 · 35 citations · Full text

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing

Akiko Suga, Kazutoshi Yoshitake, Naoko Minematsu et al. · Human Mutation · 2022 · 34 citations

Ocular Disease, Genetics, Genetic Epidemiology +16