輿水（今村）江里子 (Eriko Koshimizu (Imamura)) - マイポータル

基本情報

J-GLOBAL ID: 201801000906753233
researchmap会員ID: B000327993

外部リンク

論文

100

Hemizygous SMARCA1 variants cause X-linked intellectual disability.

Naoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada, Kotaro Yuge, Masamune Sakamoto, Naomi Tsuchida, Yuri Uchiyama, Atsushi Fujita, Eriko Koshimizu, Kazuharu Misawa …

Journal of human genetics 2025年5月2日
Mosaic deletions detected by genome sequencing in two families.

Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Nobuhiko Okamoto, Ayataka Fujimoto, Hideo Enoki, Eriko Koshimizu, Atsushi Fujita, Kazuharu Misawa, Satoko Miyatake …

Journal of human genetics 2025年4月9日
Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature.

Takeshi Mizuguchi, Nobuhiko Okamoto, Taiki Hara, Naoto Nishimura, Masamune Sakamoto, Li Fu, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Eriko Koshimizu …

Clinical epigenetics 17(1) 27-27 2025年2月18日
Triple mosaic variants of PURA in a patient with multiple congenital anomalies.

Atsushi Fujita, Yuta Suenaga, Eri Takeshita, Yuji Takahashi, Yuichi Suzuki, Sachiko Ohori, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Satoko Miyatake …

Journal of human genetics 2025年1月14日
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

Simo Li, Sanami Takada, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Maha S. Zaki, Mahmoud Y. Issa, Aida M. S. Salem, Eriko Koshimizu, Atsushi Fujita, Ryoko Fukai …

npj Genomic Medicine 9(1) 2024年11月5日
Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

Li Fu, Yuka Yamamoto, Rie Seyama, Nana Matsuzawa, Mariko Nagaoka, Takashi Yao, Keisuke Hamada, Kazuhiro Ogata, Toshifumi Suzuki, Naomi Tsuchida …

Journal of human genetics 2024年10月16日
A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis.

Kazuki Watanabe, Tomoyasu Bunai, Masamune Sakamoto, Sayaka Ishigaki, Takamasa Iwakura, Naro Ohashi, Rie Wakatsuki, Akiyuki Takenouchi, Moriya Iwaizumi, Yoshihiro Hotta …

Journal of neurology 2024年7月30日
Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies.

Sachiko Ohori, Hironao Numabe, Satomi Mitsuhashi, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi …

Genomics 110894-110894 2024年7月15日
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.

Satoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Eriko Koshimizu, Naoki Kihara, Tomoyasu Matsubara, Yasuko Mori, Kenjiro Kunieda, Yusaku Shimizu, Tomoko Toyota …

Journal of neurology, neurosurgery, and psychiatry 2024年5月30日
A cerebellar ataxia patient harboring 229 pure <scp>GAA</scp> repeat units in FGF14 presenting with grip myotonia

Yasuko Mori, Satoko Miyatake, Kenjiro Kunieda, Nobuaki Yoshikura, Yuichi Hayashi, Kazuhiro Higashida, Akio Kimura, Eriko Koshimizu, Naomichi Matsumoto, Takayoshi Shimohata

Neurology and Clinical Neuroscience 2024年5月査読有り
A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant

Takuma Ohashi, Hiroyoshi Kunimoto, Jun Nukui, Haruka Teshigawara, Satoshi Koyama, Takuya Miyazaki, Maki Hagihara, Kenji Matsumoto, Eriko Koshimizu, Naomi Tsuchida …

International Journal of Hematology 2024年3月15日
FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients.

Masaaki Matsushima, Hiroaki Yaguchi, Eriko Koshimizu, Akihiko Kudo, Shinichi Shirai, Takeshi Matsuoka, Shigehisa Ura, Atsushi Kawashima, Toshiyuki Fukazawa, Satoko Miyatake …

Journal of neurology 2024年3月12日
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

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 …

Journal of human genetics 2024年1月17日
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.

Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto

Journal of human genetics 2024年1月12日
RNA foci in two bi-allelic RFC1 expansion carriers.

Taishi Wada, Hiroshi Doi, Masaki Okubo, Mikiko Tada, Naohisa Ueda, Hidefumi Suzuki, Wakana Tominaga, Haruki Koike, Hiroyasu Komiya, Shun Kubota …

Annals of neurology 2023年12月7日
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities.

Masamune Sakamoto, Kenji Kurosawa, Koji Tanoue, Kazuhiro Iwama, Fumihiko Ishida, Yoshihiro Watanabe, Nobuhiko Okamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu …

Journal of human genetics 2023年11月30日
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.

Yasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, Keita Miyoshi, Keiji Tsuchimoto, Satoshi Sunada, Toshiyuki Itai, Masamune Sakamoto, Naomi Tsuchida, Yuri Uchiyama …

Journal of human genetics 2023年11月27日
Case series: Downbeat nystagmus in SCA27B.

Shinichi Shirai, Keiichi Mizushima, Keishi Fujiwara, Eriko Koshimizu, Masaaki Matsushima, Satoko Miyatake, Ikuko Iwata, Hiroaki Yaguchi, Naomichi Matsumoto, Ichiro Yabe

Journal of the neurological sciences 454 120849-120849 2023年11月15日
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation.

Takeshi Mizuguchi, Tomoko Toyota, Eriko Koshimizu, Shinichi Kameyama, Hiromi Fukuda, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Kazuharu Misawa …

Journal of human genetics 2023年8月18日
Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia

Naoto Sugeno, Takafumi Hasegawa, Kazuhiro Haginoya, Takafumi Kubota, Kensuke Ikeda, Takaaki Nakamura, Shun Ishiyama, Kazuki Sato, Shun Yoshida, Eriko Koshimizu …

Molecular Syndromology 2023年6月26日査読有り

もっとみる

講演・口頭発表等

Adaptive Samplingを用いたロングリードターゲットシーケンシング解析技術の検討

輿水江里子, 宮武聡子, 土井宏, 水口剛, 松本直通

日本人類遺伝学会第 66回大会
PDE10A遺伝子変異を認めた良性家族性舞踏病の日本人一家系

輿水江里子, 宮武聡子, 白井育子, 熊田聡子, 中田康弘, 中島光子, 才津浩智, 三宅紀子, 松本直通

日本人類遺伝学会第63回大会 2018年10月
次世代シーケンサーを用いた超低頻度モザイク変異の検出：ネマリンミオパチーの一例

輿水江里子, 宮武聡子, 林由起子, 宮一志, 椎名政昭, 中島光子, 鶴崎美徳, 三宅紀子, 才津浩智, 緒方一博, 西野一三, 松本直通

日本人類遺伝学会第59回大会 2014年11月
Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.

Koshimizu E, Miyatake S, Hayashi K Y, Miya K, Shiina M, Nakashima, M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, Matsumoto N

American Society of Human Genetics 2014年10月
自閉症スペクトラム疾患を対象としたマルチプレックスPCR産物の次世代シーケンス法の確立

輿水江里子, 宮武聡子, 岡本伸彦, 三宅紀子, 才津浩智, 松本直通

日本人類遺伝学会第58回大会 2013年11月
Performance Evaluation of Bench-top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder.

Koshimizu E, Miyatake S, Okamoto N, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N

American Society of Human Genetics 2013年10月
Ion AmpliSeq Custom Panelを用いたアンプリコン・ターゲットリシーケンス法の確立

輿水江里子, 宮武聡子, 三宅紀子, 才津浩智, 松本直通

日本人類遺伝学会第57回大会 2012年10月
Development of Zebrafish Models for Hutchinson-Gilford Progeria Syndrome and Laminopathies. International Progeria Workshop

Koshimizu E, Imamura S, Hanai H, Kishi S

International Progeria Workshop 2005年11月
Construction of a Genetic Map and Development of DNA Markers Linked to The Sex-Determining Locus in an Atherinid Fish, The Patagonian Pejerrey (Odontesthes hatcheri).

Koshimizu E, Strüssmann CA, Fukuda H, Sakamoto T

The 8th International Symposium on Genetics in Aquaculture 2003年11月
Construction of a Genetic Map and Development of DNA Markers Linked to The Sex Determination Locus in an Atherinid Fish, The Patagonian Pejerrey (Odontesthes hatcheri).

Koshimizu E, Strüssmann CA, Fukuda H, Sakamoto T

The 2nd International Symposium on Aquatic Genomics 2003年9月
Development of DNA Markers Linked to The Sex Determination Locus in an Atherinid Fish, The Patagonian Pejerrey (Odontesthes hatcheri).

Koshimizu E, Strüssmann CA, Fukuda H, Sakamoto T

The 7th International Symposium on Reproductive Physiology of Fish 2003年7月

輿水（今村）江里子

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