Koshimizu Eriko 今村江里子 (輿水江里子)

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IMAMURA (KOSHIMIZU) Eriko 今村江里子

輿水江里子

IMAMURA Eriko 今村江里子(輿水江里子)

今村江里子イマムラエリコ

輿水江里子

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Researcher Number	80637877
Other IDs
Affiliation (Current)	2025: 横浜市立大学, 医学部, 助教
Affiliation (based on the past Project Information) *help	2023: 横浜市立大学, 医学部, 助教 2019 – 2022: 横浜市立大学, 医学研究科, 特任助教 2013 – 2014: 横浜市立大学, 医学(系)研究科(研究院), 博士研究員
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Basic Section 51030:Pathophysiologic neuroscience-related / Pediatrics
Keywords	Principal Investigator 全エクソーム解析 / ゼブラフィッシュ / 全ゲノム解析 / 全ゲノムシーケンス / ロングリードシーケンシング / 先天性GPI欠損症 / 全ゲノムシーケンス解析 / てんかん / 全エクソームシーケンス / 進行性ミオクローヌスてんかん / エキソーム解析 / エクソーム解析 / 先天性ミオパチー

全ゲノム解析による先天性GPI欠損症の新規責任遺伝子探索Principal Investigator
- Principal Investigator
  
  今村江里子 (輿水江里子)
- Project Period (FY)
  2021 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Yokohama City University
Identification of a novel gene for early-onset epilepsy and elucidation of its pathogenic mechanismPrincipal Investigator
- Principal Investigator
  
  IMAMURA (KOSHIMIZU) Eriko
- Project Period (FY)
  2019 – 2020
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 51030:Pathophysiologic neuroscience-related
- Research Institution
  Yokohama City University
Identification and functional analysis of a new candidate gene of nemaline myopathyPrincipal Investigator
- Principal Investigator
  
  IMAMURA Eriko
- Project Period (FY)
  2013 – 2014
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Yokohama City University

All 2023 2022 2021 2020 2015 2014 2013 Other

All Journal Article Presentation

[Journal Article] Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation2023
- Author(s)
  Mizuguchi T., Toyota T., Koshimizu E., Kameyama S., Fukuda H., Tsuchida N., Uchiyama Y., Hamanaka K., Fujita A., Misawa K., Miyatake S., Adachi H. and Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 68 Issue: 12 Pages: 875-878
- DOI
  10.1038/s10038-023-01187-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-21K07869, KAKENHI-PROJECT-23K06976, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
[Journal Article] A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing2022
- Author(s)
  Arai Yuto、Okanishi Tohru、Kanai Sotaro、Okazaki Tetsuya、Koshimizu Eriko、Miyatake Satoko、Maeoka Yukinori、Fujimoto Ayataka、Matsumoto Naomichi、Maegaki Yoshihiro
- Journal Title
  
  Brain and Development
  
  Volume: 44 Issue: 10 Pages: 732-736
- DOI
  10.1016/j.braindev.2022.07.005
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K07869, KAKENHI-PROJECT-20K07907
[Journal Article] Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing2022
- Author(s)
  Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, et al.
- Journal Title
  
  npj Genomic Medicine
  
  Volume: 7 Issue: 1 Pages: 62-62
- DOI
  10.1038/s41525-022-00331-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K07440, KAKENHI-PROJECT-21K07869, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936
[Journal Article] De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy2021
- Author(s)
  Itai T, Hamanaka K, Sasaki K, Saitsu H, Miyatake S, Matsumoto N et al.
- Journal Title
  
  Hum Mutat
  
  Volume: 42 Issue: 1 Pages: 66-76
- DOI
  10.1002/humu.24130
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865
[Journal Article] De novo ATP1A3 variants cause polymicrogyria2021
- Author(s)
  Miyatake Satoko、Kato Mitsuhiro、Kumamoto Takuma、Hirose Tomonori、他
- Journal Title
  
  Science Advances
  
  Volume: 7 Issue: 13 Pages: 2368-2368
- DOI
  10.1126/sciadv.abd2368
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K06893, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19K22601, KAKENHI-PROJECT-18K15677, KAKENHI-PUBLICLY-19H04795, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-20H03438, KAKENHI-ORGANIZER-21H05158, KAKENHI-PLANNED-21H05159, KAKENHI-PROJECT-19H03228, KAKENHI-PROJECT-20H03270, KAKENHI-PROJECT-21H02405, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-21K19356, KAKENHI-PROJECT-21K19413
[Journal Article] De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy2020
- Author(s)
  Hamanaka Kohei、Imagawa Eri、Koshimizu Eriko、Miyatake Satoko、Tohyama Jun、Yamagata Takanori、Miyauchi Akihiko、Ekhilevitch Nina、Nakamura Fumio、Kawashima Takeshi、Takata Atsushi、Miyake Noriko、Matsumoto Naomichi et al.,
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 106(4) Issue: 4 Pages: 549-558
- DOI
  10.1016/j.ajhg.2020.02.011
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20H03641
[Journal Article] De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features2020
- Author(s)
  Lehalle Daphne, Vabres Pierre, Sorlin Arthur, Torti Erin, Abe Yuichi, Koshimizu Eriko, Miyakate Sakoto, St-Onge Judith, Thevenon Julien, Verdura Edgard, Whelan Habela Christa, Zacher Pia, Riviere Jean-Baptiste, Thauvin-Robinet Christel, Betschinger Joerg, Faivre Laurence, et al.
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: 57 Issue: 12 Pages: 808-819
- DOI
  10.1136/jmedgenet-2019-106508
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K16921
[Journal Article] Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses2020
- Author(s)
  Uchiyama Yuri、Yamaguchi Daisuke、Iwama Kazuhiro, et al.
- Journal Title
  
  Human Mutation
  
  Volume: 42 Issue: 1 Pages: 50-65
- DOI
  10.1002/humu.24129
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865, KAKENHI-PROJECT-18K07865
[Journal Article] Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy2020
- Author(s)
  Sakamoto Masamune、Iwama Kazuhiro、Sekiguchi Futoshi、Mashimo Hideaki、Kumada Satoko、Ishigaki Keiko、Okamoto Nobuhiko、Behnam Mahdiyeh、Ghadami Mohsen、Koshimizu Eriko、Miyatake Satoko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Saitsu Hirotomo、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 4 Pages: 401-407
- DOI
  10.1038/s10038-020-00853-2
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20K08164
[Journal Article] Prenatal clinical manifestations in individuals with COL4A1/2 variants2020
- Author(s)
  Itai T, Miyatake S, Taguri M, Nakashima M, Saitsu H, Matsumoto N et al.
- Journal Title
  
  J Med Genet
  
  Volume: 0 Issue: 8 Pages: 106896-106896
- DOI
  10.1136/jmedgenet-2020-106896
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865, KAKENHI-PROJECT-19K08237, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-20K16577
[Journal Article] Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.2015
- Author(s)
  Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Nukui M, Araki A, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 60 Pages: 175-182
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25860876
[Journal Article] De novo SOX11 mutations cause Coffin-Siris syndrome.2014
- Author(s)
  Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N
- Journal Title
  
  Nature Communications
  
  Volume: 5 Pages: 4011-4011
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25860876
[Journal Article] Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy2014
- Author(s)
  Miyatake S, Koshimizu E, Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, Matsumoto N
- Journal Title
  
  Neuromuscular Disorders
  
  Volume: 24 Pages: 642-647
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25860876
[Journal Article] Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder2013
- Author(s)
  Koshimizu E, Miyatake S, Okamoto N, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
- Journal Title
  
  PLoS One
  
  Volume: 8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25860876
[Journal Article] De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy2013
- Author(s)
  Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, Matsumoto N, Saitsu H, et al
- Journal Title
  
  Am J Hum Genet
  
  Volume: 93 Pages: 496-505
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25860876
[Journal Article] Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy2013
- Author(s)
  Ravenscroft G, Miyatake S, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Nishino I, Matsumoto N, Laing NG, et al
- Journal Title
  
  Am J Hum Genet
  
  Volume: 93 Pages: 6-18
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25860876
[Journal Article] MLL2 and KDM6A mutations in patients with Kabuki syndrome2013
- Author(s)
  Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N, et al
- Journal Title
  
  Am J Med Genet A
  
  Volume: 161 Pages: 2234-2243
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25860876
[Journal Article] Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies2013
- Author(s)
  Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 161 Pages: 1543-1546
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25860876
[Presentation] Identification of a novel deep intronic DDC variant in patients with aromatic l-amino acid decarboxylase deficiency2023
- Author(s)
  Eriko Koshimizu, Satoko Miyatake, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Mitsuhiro Kato, Naomichi Matsumoto
- Organizer
  日本人類遺伝学会第68回大会
- Data Source
  KAKENHI-PROJECT-21K07869
[Presentation] Adaptive Samplingを用いたリピート伸長疾患の迅速かつ包括的な診断方法2022
- Author(s)
  輿水江里子、宮武聡子、藤田京志、土井宏、水口剛、田中章景、松本直通
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-21K07869
[Presentation] 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2021
- Author(s)
  輿水江里子
- Organizer
  日本人類遺伝学会第66回大会
- Data Source
  KAKENHI-PROJECT-21K07869
[Presentation] SEMA6B遺伝子変異は進行性ミオクローヌスてんかんを引き起こす2020
- Author(s)
  輿水江里子, 濱中耕平, 今川英里, 高田篤, 遠山潤, 山形崇倫, 宮内彰彦, Nina Ekhilevitch, Gaik-Siew Ch'ng, 中島光子, 才津浩智, 水口剛, 宮武聡子, 三宅紀子, 松本直通
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-19K16921
[Presentation] ネマリンミオパチーの新規原因遺伝子KLHL40 の同定2013
- Author(s)
  宮武　聡子, 輿水江里子, 林由起子, Gianina Ravenscroft, 三宅紀子, 土井宏, 鶴崎美徳, 才津浩智, 小坂仁, 山下純正, 大宅喬, 増澤祐子, 今村伸太朗, 山下倫明, 椎名政昭, 緒方一博, 西野一三, Nigel Laing, 松本直通
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  江陽グランドホテル (宮城県仙台市)
- Data Source
  KAKENHI-PROJECT-25860876
[Presentation] Performance Evaluation of Bench-top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder2013
- Author(s)
  Koshimizu E, Miyatake S, Okamoto N, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
- Organizer
  American Society of Human Genetics 63rd Annual Meeting
- Place of Presentation
  Boston, USA
- Data Source
  KAKENHI-PROJECT-25860876
[Presentation] ネマリンミオパチーの遺伝子変異解析2013
- Author(s)
  林　由起子, 宮武聡子, 輿水江里子, 松本直通, 野口悟, 西野一三
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  江陽グランドホテル (宮城県仙台市)
- Data Source
  KAKENHI-PROJECT-25860876
[Presentation] 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2013
- Author(s)
  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
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  江陽グランドホテル (宮城県仙台市)
- Data Source
  KAKENHI-PROJECT-25860876
[Presentation] Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.
- Author(s)
  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
- Organizer
  American Society of Human Genetics 64th Annual Meeting
- Place of Presentation
  San Diego, USA
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25860876
[Presentation] 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.
- Author(s)
  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
- Organizer
  日本人類遺伝学会第59回大会
- Place of Presentation
  タワーホール船堀（東京）
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25860876

1. HIROSE Tomonori

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
2. 宮武聡子

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
3. 水口剛

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
4. 土井宏

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
5. 高田篤

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Koshimizu Eriko 今村 江里子 (輿水 江里子)

IMAMURA (KOSHIMIZU) Eriko 今村 江里子

輿水江里子

IMAMURA Eriko 今村 江里子(輿水江里子)

今村 江里子 イマムラ エリコ

輿水 江里子

Research Projects

Research Products

Co-Researchers

全ゲノム解析による先天性GPI欠損症の新規責任遺伝子探索Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Identification of a novel gene for early-onset epilepsy and elucidation of its pathogenic mechanismPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Identification and functional analysis of a new candidate gene of nemaline myopathyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] De novo ATP1A3 variants cause polymicrogyria2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Prenatal clinical manifestations in individuals with COL4A1/2 variants2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.2015

Author(s)

Journal Title

Koshimizu Eriko 今村江里子 (輿水江里子)

IMAMURA (KOSHIMIZU) Eriko 今村江里子

IMAMURA Eriko 今村江里子(輿水江里子)

今村江里子イマムラエリコ

輿水江里子