All papers authored by Yoshihito Kishita
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2023
Yoshihito Kishita 
,
Ayumu Sugiura ,
Takanori Onuki,
Tomohiro Ebihara ,
Tetsuro Matsuhashi,
Masaru Shimura ,
Takuya Fushimi,
Noriko Ichino ,
Yoshie Nagatakidani,
Hitomi Nishihata,
Kazuhiro R. Nitta,
Yukiko Yatsuka ,
Atsuko Imai-Okazaki,
Yibo Wu,
Hitoshi Osaka
and 3 other authors
,
Ayumu Sugiura ,
Takanori Onuki,
Tomohiro Ebihara ,
Tetsuro Matsuhashi,
Masaru Shimura ,
Takuya Fushimi,
Noriko Ichino ,
Yoshie Nagatakidani,
Hitomi Nishihata,
Kazuhiro R. Nitta,
Yukiko Yatsuka ,
Atsuko Imai-Okazaki,
Yibo Wu,
Hitoshi Osaka
and 3 other authors
Strategic validation of variants of uncertain significance inECHS1genetic testing
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2022
Masaru Shimura,
Takanori Onuki,
Yohei Sugiyama,
Tetsuro Matsuhashi,
Tomohiro Ebihara,
Takuya Fushimi,
Makiko Tajika,
Keiko Ichimoto,
Ayako Matsunaga,
Tomoko Tsuruoka,
Kazuhiro R. Nitta,
Atsuko Imai-Okazaki,
Yukiko Yatsuka,
Yoshihito Kishita ,
Akira Ohtake
and 2 other authors
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,
Akira Ohtake
and 2 other authors
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2021
Mari Kuwajima,
Karin Kojima,
Hitoshi Osaka,
Yusuke Hamada,
Eriko Jimbo,
Miyuki Watanabe,
Shiho Aoki,
Ikuko Sato-Shirai,
Keiko Ichimoto,
Takuya Fushimi,
Kei Murayama,
Akira Ohtake,
Masakazu Kohda,
Yoshihito Kishita ,
Yukiko Yatsuka
and 8 other authors
,
Yukiko Yatsuka
and 8 other authors
Valine metabolites analysis in ECHS1 deficiency
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Nana Akiyama,
Masaru Shimura,
Taro Yamazaki,
Hiroko Harashima,
Takuya Fushimi,
Tomoko Tsuruoka,
Tomohiro Ebihara,
Keiko Ichimoto,
Ayako Matsunaga,
Megumi Saito-Tsuruoka,
Yukiko Yatsuka,
Yoshihito Kishita ,
Masakazu Kohda,
Akira Namba,
Yoshimasa Kamei
and 4 other authors
Download from www.nature.com
,
Masakazu Kohda,
Akira Namba,
Yoshimasa Kamei
and 4 other authors
Download from www.nature.com
Atsuko Imai-Okazaki,
Ayako Matsunaga,
Yukiko Yatsuka,
Kazuhiro R. Nitta ,
Yoshihito Kishita ,
Ayumu Sugiura ,
Yohei Sugiyama,
Takuya Fushimi,
Masaru Shimura,
Keiko Ichimoto,
Makiko Tajika,
Minako Ogawa-Tominaga,
Tomohiro Ebihara,
Tetsuro Matsuhashi,
Tomoko Tsuruoka
and 11 other authors
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,
Yoshihito Kishita ,
Ayumu Sugiura ,
Yohei Sugiyama,
Takuya Fushimi,
Masaru Shimura,
Keiko Ichimoto,
Makiko Tajika,
Minako Ogawa-Tominaga,
Tomohiro Ebihara,
Tetsuro Matsuhashi,
Tomoko Tsuruoka
and 11 other authors
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Yoshihito Kishita ,
Masaru Shimura ,
Masakazu Kohda ,
Takuya Fushimi ,
Kazuhiro R. Nitta ,
Yukiko Yatsuka ,
Shinichi Hirose ,
Hiroshi Ideguchi ,
Akira Ohtake ,
Kei Murayama ,
Yasushi Okazaki
Download from onlinelibrary.wiley.com
,
Masaru Shimura ,
Masakazu Kohda ,
Takuya Fushimi ,
Kazuhiro R. Nitta ,
Yukiko Yatsuka ,
Shinichi Hirose ,
Hiroshi Ideguchi ,
Akira Ohtake ,
Kei Murayama ,
Yasushi Okazaki
Download from onlinelibrary.wiley.com
Shintaro Kinoshita,
Miki Ando ,
Jun Ando,
Midori Ishii,
Yoshiki Furukawa,
Osamu Tomita ,
Yoko Azusawa,
Shuichi Shirane,
Yoshihito Kishita ,
Yukiko Yatsuka ,
Hidetaka Eguchi ,
Yasushi Okazaki ,
Norio Komatsu
,
Jun Ando,
Midori Ishii,
Yoshiki Furukawa,
Osamu Tomita ,
Yoko Azusawa,
Shuichi Shirane,
Yoshihito Kishita ,
Yukiko Yatsuka ,
Hidetaka Eguchi ,
Yasushi Okazaki ,
Norio Komatsu
Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome
Download from doi.org
Yoshihito Kishita ,
Kaori Ishikawa,
Kazuto Nakada,
Jun-Ichi Hayashi,
Takuya Fushimi,
Masaru Shimura,
Masakazu Kohda,
Akira Ohtake,
Kei Murayama,
Yasushi Okazaki
,
Kaori Ishikawa,
Kazuto Nakada,
Jun-Ichi Hayashi,
Takuya Fushimi,
Masaru Shimura,
Masakazu Kohda,
Akira Ohtake,
Kei Murayama,
Yasushi Okazaki
A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome
Download from www.nature.com
Vicente A. Yépez,
R. van Coster,
Mirjana Gusic,
Robert Kopajtich,
Christian Mertes ,
Nicholas H. Smith ,
Charlotte L. Alston,
Rui Ban,
Skadi Beblo,
Riccardo Berutti,
Holger Blessing,
Elżbieta Ciara,
Felix Distelmaier,
Peter Freisinger,
Johannes Häberle
and 39 other authors
,
Nicholas H. Smith ,
Charlotte L. Alston,
Rui Ban,
Skadi Beblo,
Riccardo Berutti,
Holger Blessing,
Elżbieta Ciara,
Felix Distelmaier,
Peter Freisinger,
Johannes Häberle
and 39 other authors
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Download from doi.org
Nana Akiyama,
Masaru Shimura,
Taro Yamazaki,
Hiroko Harashima,
Takuya Fushimi,
Tomoko Tsuruoka,
Tomohiro Ebihara,
Keiko Ichimoto,
Ayako Matsunaga,
Megumi Saito-Tsuruoka,
Yukiko Yatsuka,
Yoshihito Kishita ,
Masakazu Kohda,
Akira Namba,
Yoshimasa Kamei
and 4 other authors
,
Masakazu Kohda,
Akira Namba,
Yoshimasa Kamei
and 4 other authors
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
Download from www.nature.com
Ann E. Frazier ,
Alison G. Compton ,
Yoshihito Kishita ,
Daniella H. Hock ,
AnneMarie E. Welch,
Sumudu S. C. Amarasekera ,
Rocio Rius ,
Luke E. Formosa,
Atsuko Imai-Okazaki,
David Francis,
Min Wang,
Nicole J. Lake,
Simone Tregoning,
Jafar S. Jabbari ,
Alexis Lucattini
and 32 other authors
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,
Alison G. Compton ,
Yoshihito Kishita ,
Daniella H. Hock ,
AnneMarie E. Welch,
Sumudu S. C. Amarasekera ,
Rocio Rius ,
Luke E. Formosa,
Atsuko Imai-Okazaki,
David Francis,
Min Wang,
Nicole J. Lake,
Simone Tregoning,
Jafar S. Jabbari ,
Alexis Lucattini
and 32 other authors
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2020
Nurun Nahar Borna,
Yoshihito Kishita ,
Norio Sakai,
Yusuke Hamada,
Koji Kamagata ,
Masakazu Kohda,
Akira Ohtake,
Kei Murayama,
Yasushi Okazaki
,
Norio Sakai,
Yusuke Hamada,
Koji Kamagata ,
Masakazu Kohda,
Akira Ohtake,
Kei Murayama,
Yasushi Okazaki
Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL
Download from doi.org
Yujiro Maeoka,
Toshiki Doi,
Masaho Aizawa,
Kisho Miyasako,
Shuma Hirashio,
Yukinari Masuda,
Yoshihito Kishita ,
Yasushi Okazaki,
Kei Murayama,
Toshiyuki Imasawa,
Shigeo Hara,
Takao Masaki
Download from link.springer.com
,
Yasushi Okazaki,
Kei Murayama,
Toshiyuki Imasawa,
Shigeo Hara,
Takao Masaki
Download from link.springer.com
Yoshihito Kishita ,
Masaru Shimura ,
Masakazu Kohda ,
Masumi Akita,
Atsuko Imai‐Okazaki ,
Yukiko Yatsuka ,
Yoko Nakajima,
Tetsuya Ito,
Akira Ohtake ,
Kei Murayama ,
Yasushi Okazaki
Download from doi.org
,
Masaru Shimura ,
Masakazu Kohda ,
Masumi Akita,
Atsuko Imai‐Okazaki ,
Yukiko Yatsuka ,
Yoko Nakajima,
Tetsuya Ito,
Akira Ohtake ,
Kei Murayama ,
Yasushi Okazaki
Download from doi.org
Masaru Shimura,
Naomi Kuranobu,
Minako Ogawa-Tominaga,
Nana Akiyama,
Yohei Sugiyama,
Tomohiro Ebihara,
Takuya Fushimi,
Keiko Ichimoto,
Ayako Matsunaga,
Tomoko Tsuruoka,
Yoshihito Kishita ,
Shuichiro Umetsu,
Ayano Inui,
Tomoo Fujisawa,
Ken Tanikawa
and 9 other authors
Download from link.springer.com
,
Shuichiro Umetsu,
Ayano Inui,
Tomoo Fujisawa,
Ken Tanikawa
and 9 other authors
Download from link.springer.com
Nurun Nahar Borna,
Yoshihito Kishita ,
Jiro Abe,
Takuro Furukawa,
Minako Ogawa-Tominaga,
Takuya Fushimi,
Atsuko Imai-Okazaki,
Atsuhito Takeda,
Akira Ohtake,
Kei Murayama,
Yasushi Okazaki
Download from academic.oup.com
,
Jiro Abe,
Takuro Furukawa,
Minako Ogawa-Tominaga,
Takuya Fushimi,
Atsuko Imai-Okazaki,
Atsuhito Takeda,
Akira Ohtake,
Kei Murayama,
Yasushi Okazaki
Download from academic.oup.com
Yukiko Yatsuka ,
Yoshihito Kishita ,
Luke E. Formosa ,
Masaru Shimura ,
Fumihito Nozaki,
Tatsuya Fujii,
Kazuhiro R. Nitta ,
Akira Ohtake ,
Kei Murayama ,
Michael T. Ryan ,
Yasushi Okazaki
Download from api.wiley.com
,
Yoshihito Kishita ,
Luke E. Formosa ,
Masaru Shimura ,
Fumihito Nozaki,
Tatsuya Fujii,
Kazuhiro R. Nitta ,
Akira Ohtake ,
Kei Murayama ,
Michael T. Ryan ,
Yasushi Okazaki
Download from api.wiley.com
Kohei Ohnuma ,
Yoshihito Kishita ,
Hiromi Nyuzuki,
Masakazu Kohda,
Yuta Ohtsu,
Satomi Takeo,
Tsunaki Asano,
Yukiko Sato‐Miyata,
Akira Ohtake,
Kei Murayama,
Yasushi Okazaki,
Toshiro Aigaki
Download from api.wiley.com
,
Yoshihito Kishita ,
Hiromi Nyuzuki,
Masakazu Kohda,
Yuta Ohtsu,
Satomi Takeo,
Tsunaki Asano,
Yukiko Sato‐Miyata,
Akira Ohtake,
Kei Murayama,
Yasushi Okazaki,
Toshiro Aigaki
Download from api.wiley.com
Erika Ogawa ,
Takuya Fushimi,
Minako Ogawa‐Tominaga,
Masaru Shimura,
Makiko Tajika,
Keiko Ichimoto,
Ayako Matsunaga,
Tomoko Tsuruoka,
Mika Ishige,
Tatsuo Fuchigami,
Taro Yamazaki,
Yoshihito Kishita ,
Masakazu Kohda,
Atsuko Imai‐Okazaki,
Yasushi Okazaki
and 3 other authors
,
Takuya Fushimi,
Minako Ogawa‐Tominaga,
Masaru Shimura,
Makiko Tajika,
Keiko Ichimoto,
Ayako Matsunaga,
Tomoko Tsuruoka,
Mika Ishige,
Tatsuo Fuchigami,
Taro Yamazaki,
Yoshihito Kishita ,
Masakazu Kohda,
Atsuko Imai‐Okazaki,
Yasushi Okazaki
and 3 other authors
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis
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Rei Takada,
Takenori Tozawa,
Hidehito Kondo,
Zenro Kizaki,
Yoshihito Kishita ,
Yasushi Okazaki,
Kei Murayama,
Akira Ohtake,
Tomohiro Chiyonobu
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,
Yasushi Okazaki,
Kei Murayama,
Akira Ohtake,
Tomohiro Chiyonobu
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