Keiko Shimojima Yamamoto

ORCID

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 19

Top Venues

Human genome variation

Journal of human genetics

American journal of medical genetics. Part A

The American journal of case reports

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

Publications

Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto
Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX. Human genome variation 11 (1) (2024)
Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait. Human genome variation 11 (1) (2024)
Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, Toshiyuki Yamamoto
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder. Human genome variation 11 (1) (2024)
Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait. Human genome variation 11 (1) (2024)
Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, Toshiyuki Yamamoto
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder. Human genome variation 11 (1) (2024)
Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, Toshiyuki Yamamoto
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder. Human genome variation 11 (1) (2024)
Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto
Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX. Human genome variation 11 (1) (2024)
Takeaki Tamura, Keiko Shimojima Yamamoto, Jun Tohyama, Ichiro Morioka, Hitoshi Kanno, Toshiyuki Yamamoto
Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures. Journal of human genetics (2024)
Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait. Human genome variation 11 (1) (2024)
Erina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura, Takako Aoki, Taiju Utsugisawa, Kenko Azuma, Hiroyuki Akagawa, Kenichiro Watanabe, Michiko Muraoka, Fumihiko Nakamura, Michi Kamei, Koji Tatebayashi, Jun Shinozuka, Takahisa Yamane, Makoto Hibino, Yoshiya Katsura, Sonoko Nakano-Akamatsu, Norimitsu Kadowaki, Yoshiro Maru, Etsuro Ito, Shouichi Ohga, Hiroshi Yagasaki, Ichiro Morioka, Toshiyuki Yamamoto, Hitoshi Kanno
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis. Human genome variation 10 (1) (2023)
Satoshi Ekuni, Kei Hirayama, Miwako Nagasaka, Keita Osumi, Hidehito Kondo, Erina Nakahara, Keiko Shimojima Yamamoto, Hitoshi Kanno, Yoshinori Katayama
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up. The American journal of case reports 24 (2023)
Erina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura, Takako Aoki, Taiju Utsugisawa, Kenko Azuma, Hiroyuki Akagawa, Kenichiro Watanabe, Michiko Muraoka, Fumihiko Nakamura, Michi Kamei, Koji Tatebayashi, Jun Shinozuka, Takahisa Yamane, Makoto Hibino, Yoshiya Katsura, Sonoko Nakano-Akamatsu, Norimitsu Kadowaki, Yoshiro Maru, Etsuro Ito, Shouichi Ohga, Hiroshi Yagasaki, Ichiro Morioka, Toshiyuki Yamamoto, Hitoshi Kanno
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis. Human genome variation 10 (1) (2023)
Erina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura, Takako Aoki, Taiju Utsugisawa, Kenko Azuma, Hiroyuki Akagawa, Kenichiro Watanabe, Michiko Muraoka, Fumihiko Nakamura, Michi Kamei, Koji Tatebayashi, Jun Shinozuka, Takahisa Yamane, Makoto Hibino, Yoshiya Katsura, Sonoko Nakano-Akamatsu, Norimitsu Kadowaki, Yoshiro Maru, Etsuro Ito, Shouichi Ohga, Hiroshi Yagasaki, Ichiro Morioka, Toshiyuki Yamamoto, Hitoshi Kanno
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis. Human genome variation 10 (1) (2023)
Keiko Shimojima Yamamoto, Ayumi Yoshimura, Toshiyuki Yamamoto
Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features. Human genome variation 10 (1) (2023)
Aya Yamazaki, Tomoko Kuroda, Nami Kawasaki, Keiichi Kato, Keiko Shimojima Yamamoto, Takeshi Iwasa, Akira Kuwahara, Yuka Taniguchi, Toshiyuki Takeshita, Yosuke Kita, Mikio Mikami, Minoru Irahara, Toshiyuki Yamamoto
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers. Journal of human genetics (2023)
Keiko Shimojima Yamamoto, Takeaki Tamura, Nobuhiko Okamoto, Eriko Nishi, Atsuko Noguchi, Ikuko Takahashi, Yukio Sawaishi, Masaki Shimizu, Hitoshi Kanno, Yohei Minakuchi, Atsushi Toyoda, Toshiyuki Yamamoto
Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns. Journal of human genetics (2023)
Kaoru Eto, Osamu Machida, Tomoe Yanagishita, Keiko Shimojima Yamamoto, Kentaro Chiba, Yasuo Aihara, Yuuki Hasegawa, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Satoru Nagata, Toshiyuki Yamamoto
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis. Human genome variation 9 (1) (2022)
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)

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Publication Activity (10 Years)

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Keiko Shimojima Yamamoto