Tomoko Matsubayashi

Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing

Takuya Hiraide, Kaori Yamoto, Yohei Masunaga et al. · Clinical Genetics · 2021 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

POLR3A variants in striatal involvement without diffuse hypomyelination

Takuya Hiraide, Kazuo Kubota, Yu Kono et al. · Brain and Development · 2020 · 30 citations · Full text

Life Sciences, Neurology, Neuroscience +9

Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome

Miki Asahina, Yusaku Endoh, Tomoko Matsubayashi et al. · Brain and Development · 2015 · 18 citations

Life Sciences, Genetics, Molecular Genetics +9

A multicenter, open-label extension study of velaglucerase alfa in Japanese patients with Gaucher disease: Results after a cumulative treatment period of 24 months

Hiroyuki Ida, Akemi Tanaka, Tomoko Matsubayashi et al. · Blood Cells Molecules and Diseases · 2015 · 12 citations · Full text

Medicine, Endocrinology, Pharmacotherapy +15

A de novo<i> TOP2B</i> variant associated with global developmental delay and autism spectrum disorder

Takuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi et al. · Molecular Genetics & Genomic Medicine · 2020 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17