Jun Shinmi

Most-cited papers

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

   H. Ishiura, S. Shibata, Jun Yoshimura, Yuta Suzuki +46 more

   2019Nature Genetics402 citations

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

   M. Ichihara, Y. Murakumo, A. Masuda, Toru Matsuura +8 more

   2007Nucleic Acids Research147 citations Open access

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

   K. Sahashi, A. Masuda, T. Matsuura, Jun Shinmi +5 more

   2007Nucleic Acids Research70 citations Open access

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

   Yuan Fu, A. Masuda, Mikako Ito, Jun Shinmi +1 more

   2011Nucleic Acids Research31 citations Open access

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

   Y. Yamashita, T. Matsuura, Jun Shinmi, Y. Amakusa +8 more

   2012Journal of Human Genetics23 citations

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6. Cricopharyngeal bar on videofluoroscopy: high specificity for inclusion body myositis

   K. Taira, Toshiyuki Yamamoto, M. Mori-Yoshimura, Kazuaki Sajima +5 more

   2020Journal of Neurology20 citations

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7. More prominent fibrosis of the cricopharyngeal muscle in inclusion body myositis.

   K. Taira, M. Mori-Yoshimura, Toshiyuki Yamamoto, Kazuaki Sajima +6 more

   2021Journal of Neurological Sciences7 citations

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

   Y. Yamashita, T. Matsuura, Jun Shinmi, Y. Amakusa +8 more

   2012Journal of Human Genetics1 citations Open access

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9. COL12A1-related myopathic Ehlers-Danlos syndrome with Chiari I malformation: A clinical report.

   Jun Shinmi, H. Takizawa, Y. Saito, Ayano Matsui +4 more

   2025European Journal of Medical Genetics0 citations Open access

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