Sachiko Miyamoto

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 12

Top Topics

Intellectual Disability

Top Venues

Journal of human genetics

Congenital anomalies

Molecular genetics & genomic medicine

Pediatrics international : official journal of the Japan Pediatric Society

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)
Yutaro Noguchi, Nodoka Hinokuma, Makiko Tominaga, Sachiko Miyamoto, Mitsuko Nakashima
LAMA1 variants were identified Joubert syndrome patient. Pediatrics international : official journal of the Japan Pediatric Society 64 (1) (2022)
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)
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)
Sachiko Miyamoto, Mitsuhiro Kato, Kenji Sugiyama, Ryo Horiguchi, Mitsuko Nakashima, Kazushi Aoto, Hiroki Mutoh, Hirotomo Saitsu
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies. Journal of human genetics 66 (12) (2021)
Hitoshi Kashiki, Heng Li, Sachiko Miyamoto, Hiroe Ueno, Yoshinori Tsurusaki, Chizuru Ikeda, Hirofumi Kurata, Takumi Okada, Tomoyuki Shimazu, Hoseki Imamura, Yumi Enomoto, Jun-Ichi Takanashi, Kenji Kurosawa, Hirotomo Saitsu, Ken Inoue
POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy. Neurology. Genetics 6 (6) (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)
Sachiko Miyamoto, Kazushi Aoto, Takuya Hiraide, Mitsuko Nakashima, Shuji Takabayashi, Hirotomo Saitsu
Nanopore sequencing reveals a structural alteration of mirror-image duplicated genes in a genome-editing mouse line. Congenital anomalies 60 (4) (2019)