Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening

Yuka Nakano, Hisato Suzuki, Yukiko Kuroda, Hiroshi Yoshihashi, Nobuhiko Okamoto, Akane Kondo, Rika Kosaki, Kenichi Kashimada, Toshihide Kurihara, Meow-Keong Thong, Sok-Kun Tae, Mazlan Rifhan, Takashi Enokizono, Hiroshi Suzumura, Takeshi Yoshida, Shinji Kosugi, Seiji Mizuno, Mie Inaba, Natsuki Nakamura, Mayumi Matsufuji, Eri Ogawa, Hitomi Yagi, Mamiko Yamada, Emi Qian, Daisuke Nakato, Toshiki Takenouchi, Kenjiro Kosaki, Fuyuki Miya

Open source

DOI: 10.1016/j.isci.2026.116814
Published: 2026-08
Container: iScience
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.isci.2026.116814,
  title = {Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening},
  author = {Yuka Nakano and Hisato Suzuki and Yukiko Kuroda and Hiroshi Yoshihashi and Nobuhiko Okamoto and Akane Kondo and Rika Kosaki and Kenichi Kashimada and Toshihide Kurihara and Meow-Keong Thong and Sok-Kun Tae and Mazlan Rifhan and Takashi Enokizono and Hiroshi Suzumura and Takeshi Yoshida and Shinji Kosugi and Seiji Mizuno and Mie Inaba and Natsuki Nakamura and Mayumi Matsufuji and Eri Ogawa and Hitomi Yagi and Mamiko Yamada and Emi Qian and Daisuke Nakato and Toshiki Takenouchi and Kenjiro Kosaki and Fuyuki Miya},
  year = {2026},
  journal = {iScience},
  doi = {10.1016/j.isci.2026.116814},
  url = {https://doi.org/10.1016/j.isci.2026.116814}
}

RIS

TY  - JOUR
TI  - Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening
AU  - Yuka Nakano
AU  - Hisato Suzuki
AU  - Yukiko Kuroda
AU  - Hiroshi Yoshihashi
AU  - Nobuhiko Okamoto
AU  - Akane Kondo
AU  - Rika Kosaki
AU  - Kenichi Kashimada
AU  - Toshihide Kurihara
AU  - Meow-Keong Thong
AU  - Sok-Kun Tae
AU  - Mazlan Rifhan
AU  - Takashi Enokizono
AU  - Hiroshi Suzumura
AU  - Takeshi Yoshida
AU  - Shinji Kosugi
AU  - Seiji Mizuno
AU  - Mie Inaba
AU  - Natsuki Nakamura
AU  - Mayumi Matsufuji
AU  - Eri Ogawa
AU  - Hitomi Yagi
AU  - Mamiko Yamada
AU  - Emi Qian
AU  - Daisuke Nakato
AU  - Toshiki Takenouchi
AU  - Kenjiro Kosaki
AU  - Fuyuki Miya
PY  - 2026
JO  - iScience
DO  - 10.1016/j.isci.2026.116814
UR  - https://doi.org/10.1016/j.isci.2026.116814
ER  -

APA

Nakano, Y., Suzuki, H., Kuroda, Y., Yoshihashi, H., Okamoto, N., Kondo, A., Kosaki, R., Kashimada, K., Kurihara, T., Thong, M., Tae, S., Rifhan, M., Enokizono, T., Suzumura, H., Yoshida, T., Kosugi, S., Mizuno, S., Inaba, M., Nakamura, N., Matsufuji, M., Ogawa, E., Yagi, H., Yamada, M., Qian, E., Nakato, D., Takenouchi, T., Kosaki, K., & Miya, F. (2026). Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening. iScience. https://doi.org/10.1016/j.isci.2026.116814

Source records

crossref · retrieved 2026-09-25T16:51:05.367Z