Takuya Hiraide (Takuya Hirade)

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 16

Top Topics

Intellectual Disability

Top Venues

Journal of human genetics

Molecular genetics & genomic medicine

American journal of medical genetics. Part A

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

Publications

Ryota Kawakami, Takuya Hiraide, Kazuki Watanabe, Sachiko Miyamoto, Kota Hira, Kazuyuki Komatsu, Hidetoshi Ishigaki, Kimiyoshi Sakaguchi, Masato Maekawa, Keita Yamashita, Tokiko Fukuda, Isao Miyairi, Tsutomu Ogata, Hirotomo Saitsu
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing. Journal of human genetics (2023)
Ryota Kawakami, Takuya Hiraide, Kazuki Watanabe, Sachiko Miyamoto, Kota Hira, Kazuyuki Komatsu, Hidetoshi Ishigaki, Kimiyoshi Sakaguchi, Masato Maekawa, Keita Yamashita, Tokiko Fukuda, Isao Miyairi, Tsutomu Ogata, Hirotomo Saitsu
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing. Journal of human genetics 69 (2) (2023)
Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura, Sachiko Miyamoto, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome. Journal of human genetics (2023)
Ryota Kawakami, Takuya Hiraide, Kazuki Watanabe, Sachiko Miyamoto, Kota Hira, Kazuyuki Komatsu, Hidetoshi Ishigaki, Kimiyoshi Sakaguchi, Masato Maekawa, Keita Yamashita, Tokiko Fukuda, Isao Miyairi, Tsutomu Ogata, Hirotomo Saitsu
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing. Journal of human genetics 69 (2) (2023)
Takuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, Kazushi Aoto, Mitsuko Nakashima, Tomomi Yamaguchi, Tomoki Kosho, Tsutomu Ogata, Hirotomo Saitsu
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing. Journal of human genetics 67 (7) (2022)
Takuya Hiraide, Tenpei Akita, Kenji Uematsu, Sachiko Miyamoto, Mitsuko Nakashima, Masayuki Sasaki, Atsuo Fukuda, Mitsuhiro Kato, Hirotomo Saitsu
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome. Journal of human genetics (2022)
Takuya Hiraide, Yohei Masunaga, Akira Honda, Fumiko Kato, Tokiko Fukuda, Maki Fukami, Mitsuko Nakashima, Hirotomo Saitsu, Tsutomu Ogata
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata. Journal of human genetics 67 (5) (2022)
Takuya Hiraide, Taihei Tanaka, Yohei Masunaga, Yumiko Ohkubo, Mitsuko Nakashima, Tokiko Fukuda, Tsutomu Ogata, Hirotomo Saitsu
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant. Journal of human genetics 66 (12) (2021)
Tomoe Yanagishita, Takuya Hiraide, Keiko Shimojima Yamamoto, Makoto Funatsuka, Yusaku Miyamoto, Makiko Maeda, Kumiko Yanagi, Tadashi Kaname, Satoru Nagata, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Kenjiro Kosaki, Toshiyuki Yamamoto
HECW2-related disorder in four Japanese patients. American journal of medical genetics. Part A 185 (10) (2021)
Tomoe Yanagishita, Takuya Hiraide, Keiko Shimojima Yamamoto, Makoto Funatsuka, Yusaku Miyamoto, Makiko Maeda, Kumiko Yanagi, Tadashi Kaname, Satoru Nagata, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Kenjiro Kosaki, Toshiyuki Yamamoto
Corrigendum to "HECW2-related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363". American journal of medical genetics. Part A 185 (12) (2021)
Sachiko Miyamoto, Mitsuhiro Kato, Takuya Hiraide, Tadashi Shiohama, Tomohide Goto, Akira Hojo, Akio Ebata, Manabu Suzuki, Kozue Kobayashi, Pin Fee Chong, Ryutaro Kira, Hiroko Baber Matsushita, Hiroko Ikeda, Kyoko Hoshino, Mayumi Matsufuji, Nobuko Moriyama, Masayuki Furuyama, Tatsuya Yamamoto, Mitsuko Nakashima, Hirotomo Saitsu
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies. Journal of human genetics 66 (11) (2021)
Takuya Hiraide, Kaori Yamoto, Yohei Masunaga, Miki Asahina, Yusaku Endoh, Yumiko Ohkubo, Tomoko Matsubayashi, Satoshi Tsurui, Hidetaka Yamada, Kumiko Yanagi, Mitsuko Nakashima, Kouichi Hirano, Haruhiko Sugimura, Tokiko Fukuda, Tsutomu Ogata, Hirotomo Saitsu
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing. Clinical genetics 100 (1) (2021)
Takuya Hiraide, Mitsuko Nakashima, Takahiro Ikeda, Daisuke Tanaka, Hitoshi Osaka, Hirotomo Saitsu
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy. Journal of human genetics 65 (10) (2020)
Takuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, Kumiko Yanagi, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu
A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder. Molecular genetics & genomic medicine 8 (3) (2020)
Sachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, Takuya Hiraide, Kenji Kurosawa, Toshiyuki Yamamoto, Junichi Takanashi, Hitoshi Osaka, Ken Inoue, Takehiro Miyazaki, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. Molecular genetics & genomic medicine 7 (8) (2019)
Takuya Hiraide, Ayako Hattori, Daisuke Ieda, Ikumi Hori, Shinji Saitoh, Mitsuko Nakashima, Hirotomo Saitsu
De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences. Epilepsia open 4 (3) (2019)