Mariko Okubo

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Mariko Okubo, Narihiro Minami, Kanako Goto et al. · Journal of Human Genetics · 2016 · 103 citations · Full text

Dmd Mutations, Duchenne/becker Muscular Dystrophy, Mendelian Disorder +9

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

Mariko Okubo, Kanako Goto, Hirofumi Komaki et al. · Orphanet Journal of Rare Diseases · 2017 · 59 citations · Full text

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy

Mariko Okubo, S. Noguchi, Shinichiro Hayashi et al. · Human Genetics · 2020 · 45 citations · Full text

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

Kohei Hamanaka, Satoko Miyatake, Eriko Koshimizu et al. · Genetics in Medicine · 2018 · 44 citations · Full text

Bioinformatics, Rare Diseases, Dna Sequencing +11

A family of distal arthrogryposis type 5 due to a novel <i>PIEZO2</i> mutation

Mariko Okubo, Atsushi Fujita, Yoshiaki Saito et al. · American Journal of Medical Genetics Part A · 2015 · 42 citations

Developmental Anomaly, Rare Diseases, Developmental Biology +14