Takeshi Mizuguchi

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 43

Top Venues

Journal of human genetics

Scientific reports

Clinical genetics

Clinical epigenetics

Yokohama City University

Nagasaki University (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Yokohama City University

Japan

Associate Professor :: Department of Human Genetics

Yokohama City University

Japan

Assistant Professor :: Department of Human Genetics

National Cancer Institute

United States

Research Fellow :: Laboratory of Biochemistry and Molecular Biology

National Cancer Institute

United States

Postdoctoral Fellow :: Laboratory of Biochemistry and Molecular Biology

Yokohama City University

Japan

Assistant Professor :: Department of Human Genetics

Education History

Nagasaki University

Japan

PHD :: Department of Human Genetics

Publications

Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling. Journal of human genetics (2024)
Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling. Journal of human genetics 69 (3-4) (2024)
Yuta Inoue, Naomi Tsuchida, Chong Ae Kim, Bruno de Oliveira Stephan, Matheus Augusto Araujo Castro, Rachel Sayuri Honjo, Debora Romeo Bertola, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability. Journal of human genetics (2024)
Yuta Inoue, Naomi Tsuchida, Chong Ae Kim, Bruno de Oliveira Stephan, Matheus Augusto Araujo Castro, Rachel Sayuri Honjo, Debora Romeo Bertola, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability. Journal of human genetics 69 (3-4) (2024)
Yuta Inoue, Naomi Tsuchida, Chong Ae Kim, Bruno de Oliveira Stephan, Matheus Augusto Araujo Castro, Rachel Sayuri Honjo, Debora Romeo Bertola, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability. Journal of human genetics 69 (3-4) (2024)
Satoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Eriko Koshimizu, Naoki Kihara, Tomoyasu Matsubara, Yasuko Mori, Kenjiro Kunieda, Yusaku Shimizu, Tomoko Toyota, Shinichi Shirai, Masaaki Matsushima, Masaki Okubo, Taishi Wada, Misako Kunii, Ken Johkura, Ryosuke Miyamoto, Yusuke Osaki, Takabumi Miyama, Mai Satoh, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Kazuharu Misawa, Kohei Hamanaka, Haruka Hamanoue, Takeshi Mizuguchi, Hiroyuki Morino, Yuishin Izumi, Takayoshi Shimohata, Kunihiro Yoshida, Hiroaki Adachi, Fumiaki Tanaka, Ichiro Yabe, Naomichi Matsumoto
Complete nanopore repeat sequencing of SCA27B (GAA- FGF14 ataxia) in Japanese. Journal of neurology, neurosurgery, and psychiatry (2024)
Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling. Journal of human genetics 69 (3-4) (2024)
Yasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, Keita Miyoshi, Keiji Tsuchimoto, Satoshi Sunada, Toshiyuki Itai, Masamune Sakamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Yasuhito Kato, Kuniaki Saito, Kazuhiro Ogata, Naomichi Matsumoto
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders. Journal of human genetics (2023)
Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, Nobuhiko Okamoto, Eriko Koshimizu, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Naomichi Matsumoto
Correction: A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. Journal of human genetics (2023)
Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, Nobuhiko Okamoto, Eriko Koshimizu, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Naomichi Matsumoto
Correction: A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. Journal of human genetics (2023)
Rie Seyama, Yuri Uchiyama, Yosuke Kaneshi, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Atsuo Itakura, Nobuhiko Okamoto, Naomichi Matsumoto
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism. Journal of human genetics (2023)
Hiromi Fukuda, Takeshi Mizuguchi, Hiroshi Doi, Shinichi Kameyama, Misako Kunii, Hideto Joki, Tatsuya Takahashi, Hiroyasu Komiya, Mei Sasaki, Yosuke Miyaji, Sachiko Ohori, Eriko Koshimizu, Yuri Uchiyama, Naomi Tsuchida, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Fumiaki Tanaka, Naomichi Matsumoto
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias. Journal of human genetics (2023)
Sachiko Ohori, Akihiko Miyauchi, Hitoshi Osaka, Charles Marques Lourenco, Naohiro Arakaki, Toru Sengoku, Kazuhiro Ogata, Rachel Sayuri Honjo, Chong Ae Kim, Satomi Mitsuhashi, Martin C Frith, Rie Seyama, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Kuniaki Saito, Atsushi Fujita, Naomichi Matsumoto
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy. Life science alliance 6 (8) (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Takeshi Mizuguchi, Tomoko Toyota, Eriko Koshimizu, Shinichi Kameyama, Hiromi Fukuda, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Kazuharu Misawa, Satoko Miyatake, Hiroaki Adachi, Naomichi Matsumoto
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation. Journal of human genetics (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Masamune Sakamoto, Kenji Kurosawa, Koji Tanoue, Kazuhiro Iwama, Fumihiko Ishida, Yoshihiro Watanabe, Nobuhiko Okamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities. Journal of human genetics (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
A novel NONO variant that causes developmental delay and cardiac phenotypes. Scientific reports 13 (1) (2023)
Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, Nobuhiko Okamoto, Eriko Koshimizu, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Naomichi Matsumoto
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. Journal of human genetics (2022)
Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, Masaki Okubo, Taishi Wada, Kohei Hamanaka, Naohisa Ueda, Hitaru Kishida, Gaku Minase, Atsuhiro Matsuno, Minori Kodaira, Katsuhisa Ogata, Rumiko Kato, Atsuhiko Sugiyama, Ayako Sasaki, Takabumi Miyama, Mai Satoh, Yuri Uchiyama, Naomi Tsuchida, Haruka Hamanoue, Kazuharu Misawa, Kiyoshi Hayasaka, Yoshiki Sekijima, Hiroaki Adachi, Kunihiro Yoshida, Fumiaki Tanaka, Takeshi Mizuguchi, Naomichi Matsumoto
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing. NPJ genomic medicine 7 (1) (2022)
Yuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, Shimakawa Shuichi, Kei Ohashi, Shinji Saitoh, Atsushi Ogawa, Keisuke Hamada, Masamune Sakamoto, Noriko Miyake, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Kazuhiro Ogata, Yuri Uchiyama, Naomichi Matsumoto
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants. Clinical genetics (2022)
Yuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, Shimakawa Shuichi, Kei Ohashi, Shinji Saitoh, Atsushi Ogawa, Keisuke Hamada, Masamune Sakamoto, Noriko Miyake, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Kazuhiro Ogata, Yuri Uchiyama, Naomichi Matsumoto
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants. Clinical genetics (2022)
Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, Nobuhiko Okamoto, Eriko Koshimizu, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Naomichi Matsumoto
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. Journal of human genetics (2022)
Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, Nobuhiko Okamoto, Eriko Koshimizu, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Naomichi Matsumoto
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. Journal of human genetics (2022)
Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, Nobuhiko Okamoto, Eriko Koshimizu, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Naomichi Matsumoto
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. Journal of human genetics (2022)
Ken Saida, Junya Tamaoki, Masayuki Sasaki, Muzhirah Haniffa, Eriko Koshimizu, Toru Sengoku, Hiroki Maeda, Masahiro Kikuchi, Haruna Yokoyama, Masamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Kazuhiro Ogata, Noriko Miyake, Satoko Miyatake, Makoto Kobayashi, Naomichi Matsumoto
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy. Clinical genetics 100 (6) (2021)
Shinichi Kameyama, Takeshi Mizuguchi, Hiromi Fukuda, Lip Hen Moey, Wee Teik Keng, Nobuhiko Okamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Naomichi Matsumoto
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features. Journal of human genetics (2021)
Hiromi Fukuda, Daisuke Yamaguchi, Kristofor Nyquist, Yasushi Yabuki, Satoko Miyatake, Yuri Uchiyama, Kohei Hamanaka, Ken Saida, Eriko Koshimizu, Naomi Tsuchida, Atsushi Fujita, Satomi Mitsuhashi, Kazuyuki Ohbo, Yuki Satake, Jun Sone, Hiroshi Doi, Keisuke Morihara, Tomoko Okamoto, Yuji Takahashi, Aaron M Wenger, Norifumi Shioda, Fumiaki Tanaka, Naomichi Matsumoto, Takeshi Mizuguchi
Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing. Clinical epigenetics 13 (1) (2021)
Ilaria Parenti, Daphne Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A de Man, Heidi Cope, Vandana Shashi, null null, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frederic Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M B H van de Laar, Marjon A van Slegtenhorst, Philippe M Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J Louie, Michael J Lyons, Amy Dobson, Astrid S Plomp, M Mahdi Motazacker, Frank J Kaiser, Andrew T Timberlake, Sabine A Fuchs, Christel Depienne, Mignot Cyril
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human genetics 140 (7) (2021)
Sachiko Ohori, Rie S Tsuburaya, Masako Kinoshita, Etsuko Miyagi, Takeshi Mizuguchi, Satomi Mitsuhashi, Martin C Frith, Naomichi Matsumoto
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder. Journal of human genetics 66 (7) (2021)
Kazushi Aoto, Mitsuhiro Kato, Tenpei Akita, Mitsuko Nakashima, Hiroki Mutoh, Noriyuki Akasaka, Jun Tohyama, Yoshiko Nomura, Kyoko Hoshino, Yasuhiko Ago, Ryuta Tanaka, Orna Epstein, Revital Ben-Haim, Eli Heyman, Takehiro Miyazaki, Hazrat Belal, Shuji Takabayashi, Chihiro Ohba, Atsushi Takata, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice. Nature communications 12 (1) (2021)
Satoko Miyatake, Mitsuhiro Kato, Takuma Kumamoto, Tomonori Hirose, Eriko Koshimizu, Takaaki Matsui, Hideyuki Takeuchi, Hiroshi Doi, Keisuke Hamada, Mitsuko Nakashima, Kazunori Sasaki, Akio Yamashita, Atsushi Takata, Kohei Hamanaka, Mai Satoh, Takabumi Miyama, Yuri Sonoda, Momoko Sasazuki, Hiroyuki Torisu, Toshiro Hara, Yasunari Sakai, Yushi Noguchi, Mazumi Miura, Yoko Nishimura, Kazuyuki Nakamura, Hideyuki Asai, Nodoka Hinokuma, Fuyuki Miya, Tatushiko Tsunoda, Masami Togawa, Yukihiro Ikeda, Nobusuke Kimura, Kaoru Amemiya, Asako Horino, Masataka Fukuoka, Hiroko Ikeda, Goni Merhav, Nina Ekhilevitch, Masaki Miura, Takeshi Mizuguchi, Noriko Miyake, Atsushi Suzuki, Shouichi Ohga, Hirotomo Saitsu, Hidehisa Takahashi, Fumiaki Tanaka, Kazuhiro Ogata, Chiaki Ohtaka-Maruyama, Naomichi Matsumoto
De novo ATP1A3 variants cause polymicrogyria. Science advances 7 (13) (2021)
Rie Seyama, Naomi Tsuchida, Yasuyuki Okada, Sonoko Sakata, Keisuke Hamada, Yoshiteru Azuma, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Atsuo Itakura, Satoshi Okada, Nobuhiko Okamoto, Kazuhiro Ogata, Yuri Uchiyama, Naomichi Matsumoto
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms. Journal of human genetics (2021)
Toshiyuki Itai, Satoko Miyatake, Naomi Tsuchida, Ken Saida, Sho Narahara, Yu Tsuyusaki, Matheus Augusto Araujo Castro, Chong Ae Kim, Nobuhiko Okamoto, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Naomichi Matsumoto
Novel CLTC variants cause new brain and kidney phenotypes. Journal of human genetics (2021)
Hiromi Aoi, Takeshi Mizuguchi, Toshifumi Suzuki, Shintaro Makino, Yuka Yamamoto, Jun Takeda, Yojiro Maruyama, Rie Seyama, Shiori Takeuchi, Yuri Uchiyama, Yoshiteru Azuma, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Satomi Mitsuhashi, Atsushi Takata, Noriko Miyake, Satoru Takeda, Atsuo Itakura, Naomichi Matsumoto
Whole exome sequencing of fetal structural anomalies detected by ultrasonography. Journal of human genetics 66 (5) (2020)
Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, Satoko Miyatake, Kohei Hamanaka, Naomi Tsuchida, Hiromi Aoi, Yoshiteru Azuma, Toshiyuki Itai, Ken Saida, Hiromi Fukuda, Futoshi Sekiguchi, Tomohiro Sakaguchi, Ming Lei, Sachiko Ohori, Masamune Sakamoto, Mitsuhiro Kato, Takayoshi Koike, Yukitoshi Takahashi, Koichi Tanda, Yuki Hyodo, Rachel Sayuri Honjo Kawahira, Debora Romeo Bertola, Chong Ae Kim, Masahide Goto, Tetsuya Okazaki, Hiroyuki Yamada, Yoshihiro Maegaki, Hitoshi Osaka, Lock Hock Ngu, Gaik-Siew Ch'ng, Keng W Teik, Manami Akasaka, Hiroshi Doi, Fumiaki Tanaka, Tomohide Goto, Long Guo, Shiro Ikegawa, Kazuhiro Haginoya, Muzhirah Haniffa, Nozomi Hiraishi, Yoko Hiraki, Satoru Ikemoto, Atsuro Daida, Shin-Ichiro Hamano, Masaki Miura, Akihiko Ishiyama, Osamu Kawano, Akane Kondo, Hiroshi Matsumoto, Nobuhiko Okamoto, Tohru Okanishi, Yukimi Oyoshi, Eri Takeshita, Toshifumi Suzuki, Yoshiyuki Ogawa, Hiroshi Handa, Yayoi Miyazono, Eriko Koshimizu, Atsushi Fujita, Atsushi Takata, Noriko Miyake, Takeshi Mizuguchi, Naomichi Matsumoto
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Human mutation 42 (1) (2020)
Masamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, Hideaki Mashimo, Satoko Kumada, Keiko Ishigaki, Nobuhiko Okamoto, Mahdiyeh Behnam, Mohsen Ghadami, Eriko Koshimizu, Satoko Miyatake, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. Journal of human genetics 66 (4) (2020)

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Publication Activity (10 Years)

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Takeshi Mizuguchi