Jun Shinmi

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura et al. · Nature Genetics · 2019 · 447 citations

Medicine, Neurology, Neuroscience +15

Thermodynamic instability of siRNA duplex is a prerequisite for dependable prediction of siRNA activities

Masatoshi Ichihara, Yoshiki Murakumo, Akio Masuda et al. · Nucleic Acids Research · 2007 · 167 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +17

In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5′ splice sites

Kentaro Sahashi, Akio Masuda, Tohru Matsuura et al. · Nucleic Acids Research · 2007 · 73 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

AG-dependent 3′-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon

Yuan Fu, Akio Masuda, Mikako Ito et al. · Nucleic Acids Research · 2011 · 33 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy

Yoshihiro Yamashita, Tohru Matsuura, Jun Shinmi et al. · Journal of Human Genetics · 2012 · 20 citations

Medicine, Molecular Genetics, Molecular Medicine +6