Enomoto Yumi 榎本友美

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ENOMOTO Yumi 榎本友美

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Researcher Number	20506290
Other IDs
Affiliation (Current)	2025: 国立研究開発法人国立成育医療研究センター, ゲノム医療研究部, (非)研究員
Affiliation (based on the past Project Information) *help	2018 – 2023: 地方独立行政法人神奈川県立病院機構神奈川県立こども医療センター(臨床研究所), 臨床研究所, 研究員 2016: 地方独立行政法人神奈川県立病院機構, 神奈川県立こども医療センター・臨床研究所, 研究員
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related Except Principal Investigator Pediatrics
Keywords	Principal Investigator 先天性疾患 / 複雑構造変異 / リピート変異 / 未診断症例 / Whole-Genome Mapping / 発症メカニズム / トポロジー関連ドメイン / ultraconserved elements / トランスポゾン挿入変異 / イントロン変異 … More / エクソームシーケンス / エクソン外変異 / 先天異常 / 全ゲノムシーケンス … More Except Principal Investigator 次世代シーケンサー / エクソーム / copy number variant / ゲノム支援 / マイクロアレイ / エクソーム解析 / 次世代シーケンス / 精神遅滞 / 多発奇形 Less

Structural variant analysis in patients with congenital anomalies using whole-genome mappingPrincipal Investigator
- Principal Investigator
  
  榎本友美
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Kanagawa Children's Medical Center (Clinical Research Institute)
Diagnostic challenge using new methods in exome-negative patientsPrincipal Investigator
- Principal Investigator
  
  Enomoto Yumi
- Project Period (FY)
  2018 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Kanagawa Children's Medical Center (Clinical Research Institute)
Genetic and genomic analysis on the patients with multiple congenital anomalies
- Principal Investigator
  
  Kurosawa Kenji
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kanagawa Children's Medical Center (Clinical Research Institute)

All 2022 2019 2018 2017 2016 2015 Other

All Journal Article Presentation

[Journal Article] Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing2022
- Author(s)
  Enomoto Y, Yokoi T, Tsurusaki Y, Murakami H, Tominaga M, Minatogawa M, Abe-Hatano C, Kuroda Y, Ohashi I, Ida K, Shiiya S, Kumaki T, Naruto T, Mitsui J, Harada N, Kido Y, Kurosawa K
- Journal Title
  
  Clinical Genetics
  
  Volume: 101 Issue: 3 Pages: 335-345
- DOI
  10.1111/cge.14103
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07864, KAKENHI-PROJECT-20K08270, KAKENHI-PROJECT-16H06279
[Journal Article] A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.2017
- Author(s)
  Tsurusaki Y, Ohashi I, Enomoto Y, Naruto T, Mitsui J, Kurosawa K, Aida N
- Journal Title
  
  Human Genome Variation
  
  Volume: 印刷中
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26461538
[Journal Article] Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features.2015
- Author(s)
  Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai J, Wada T, Kurosawa K.
- Journal Title
  
  Ａｍ　Ｊ　Ｍｅｄ　Ｇｅｎｅｔ　Ａ
  
  Volume: 167 Issue: 6 Pages: 1349-53
- DOI
  10.1002/ajmg.a.37002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461538
[Journal Article] A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.2015
- Author(s)
  Kuroda Y, Ohashi I, Enomoto Y, Naruto T, Baba N, Tanaka Y, Aida N, Okamoto N, Niihori T, Aoki Y, Kurosawa K.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 167A Issue: 9 Pages: 2223-2225
- DOI
  10.1002/ajmg.a.37135
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26461538
[Presentation] エクソーム解析で疾患原因不明の患者に対する新手法による原因解明の試み2019
- Author(s)
  榎本友美, 黒澤健司
- Organizer
  2019年度「先進ゲノム支援」拡大班会議
- Data Source
  KAKENHI-PROJECT-18K07864
[Presentation] Complex rearrangements of CREBBP detected in patients with Rubinstein-Taybi syndrome (RSTS)2019
- Author(s)
  Enomoto Y, Tsurusaki Y, Kuroda Y, Murakami H, Kimura Y, Shiiya S, Naruto T, Kido Y, Kurosawa K
- Organizer
  American Society Of Human Genetics 69th Annual Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07864
[Presentation] Whole exome sequence identified the deletion in 5' UTR or upstream intronic region of CREBBP in a patient with Rubinstein-Taybi syndrome2018
- Author(s)
  Enomoto Y, Tsurusaki Y, Kuroda Y, Murakami H, Ida K, Umegae M, Harada N, Kimura Y, Naruto T, Kurosawa K
- Organizer
  American Society Of Human Genetics 68th Annual Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07864
[Presentation] The variety of phenotype in patients with rare Japanese-origin homozygous deletion in RECQL42018
- Author(s)
  Enomoto Y, Tsurusaki Y, Kuroda Y, Murakami H, Umegae M, Kimura Y, Naruto T, Shimokaze T, Kurosawa K
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-18K07864
[Presentation] 次世代シーケンサー(NGS)を用いて診断したKBG症候群の2例2016
- Author(s)
  中村航、羽田野ちひろ、横井貴之、黒澤健司、榎本友美、鶴崎美徳、原田法彰、永井淳一
- Organizer
  第339回日本小児科学会神奈川県地方会
- Place of Presentation
  神奈川県総合医療会館（神奈川県横浜市中区）
- Year and Date
  2016-03-12
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Structural brain abnormalities associated with deletion at chromosome 2p16.1.2016
- Author(s)
  Shimbo H, Yokoi T, Mizuno S, Suzumura H, Aida N, Nagai J, Ida K, Enomoto Y, Hatano C, Kurosawa K.
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  京都国際会議場（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Early development of rare tumors in individuals with congenital malformation syndrome.2016
- Author(s)
  Minatogawa M, Iwasaki F, Fukuda K, Hatano C, Yokoi T, Enomoto Y, Ida K, Tsurusaki Y, Harada N, Saitou T, Nagai J, Goto H, Kurosawa K
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  京都国際会議場（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] 次世代シーケンサーにより診断されたKBG症候群の臨床像2016
- Author(s)
  横井貴之、湊川真理、羽田野ちひろ、榎本友美、鶴崎美徳、成戸卓也、小崎健次郎、黒澤健司
- Organizer
  第39回日本小児遺伝学会
- Place of Presentation
  慶應義塾大学（東京都港区）
- Year and Date
  2016-12-09
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Dosage Changes of NIPBL cause various types of neurodevelopmental disability.2016
- Author(s)
  Hatano C, Yokoi T, Enomoto Y, Tsurusaki Y, Saito T, Nagai J, Kurosawa K
- Organizer
  he 13th International Congress of Human Genetics
- Place of Presentation
  京都国際会議場（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Next-generation sequencing identifies novel ARID1B mutations in patients with Coffin-Siris syndrome.2016
- Author(s)
  Tsurusaki Y, Enomoto Y, Yokoi T, Hatano C, Ida K, Kurosawa K
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  京都国際会議場（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Deletion of KIRREL3 causes intellectual disability in Jacobsen syndrome.2015
- Author(s)
  Hatano C, Yokoi T, Enomoto Y, Saito T, Nagai J, Kurosawa K.
- Organizer
  米国人類遺伝学会2015
- Place of Presentation
  ボルチモア（米国）
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Genetic analysis of autism spectrum disorder(ASD) based on developed diagnostic flows using next-generation sequencing (NGS).2015
- Author(s)
  Enomoto Y, Yokoi T, Hatano C, Ida K, Naruto T, Kurosawa K.
- Organizer
  米国人類遺伝学会2015
- Place of Presentation
  ボルチモア（米国）
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] 遺伝性小児神経領域疾患診断への臨床エクソームの導入2015
- Author(s)
  羽田野ちひろ、横井貴之、渡邊肇子、露崎悠、新保裕子、榎本友美、成戸卓也、大橋育子、黒田友紀子、後藤知英、黒澤健司
- Organizer
  第57回日本小児神経学会学術集会
- Place of Presentation
  帝国ホテル大阪（大阪府大阪市北区）
- Year and Date
  2015-05-28
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] EGFRの機能喪失型変異の複合ヘテロ接合を有する一男児例2015
- Author(s)
  横井貴之、羽田野ちひろ、鶴﨑美徳、榎本友美、成戸卓也、林至恩、小林正久、井田博幸、黒澤健司
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] 次世代シーケンサーを用いた遺伝性疾患におけるコピー数異常の検出．2015
- Author(s)
  横井貴之、大橋育子、黒田友紀子、羽田野ちひろ、榎本友美、成戸卓也、升野光雄、黒澤健司
- Organizer
  第39回日本遺伝カウンセリング学会学術集会
- Place of Presentation
  三井ガーデンホテル千葉（千葉県千葉市中央区）
- Year and Date
  2015-06-26
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] 小児病院の診断における次世代シーケンサーの利用
- Author(s)
  榎本友美、大橋育子、黒田友紀子、羽田野ちひろ、横井貴之、井田一美、成戸卓也、黒澤健司
- Organizer
  第59回日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2014-11-20 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] メンデル遺伝病エクソーム解析による多発奇形・発達遅滞（MCA / ID・DD ）の解析
- Author(s)
  横井貴之、大橋育子、黒田友紀子、羽田野ちひろ、榎本友美、成戸卓也、升野光雄、井田博幸、黒澤健司
- Organizer
  第59回日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2014-11-20 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Contiguous deletion of CADPS2 and GRM8 associates with severe autism spectrum disorder.
- Author(s)
  Hatano C, Yokoi T, Wakui K, Enomoto K, Kuroda Y, Ohashi I, Kosaki R, Kurosawa K
- Organizer
  American Society of Human Genetics 64th Annual Meeting
- Place of Presentation
  SanDiego
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-26461538

1. Kurosawa Kenji (20277031)

# of Collaborated Projects: 1 results

# of Collaborated Products: 16 results
2. NARUTO Takuya (60438124)

# of Collaborated Projects: 1 results

# of Collaborated Products: 9 results
3. TSURUSAKI Yoshinori (70392040)

# of Collaborated Projects: 1 results

# of Collaborated Products: 6 results
4. NIIHORI Tetsuya

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
5. 青木洋子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Enomoto Yumi 榎本 友美

ENOMOTO Yumi 榎本 友美

Research Projects

Research Products

Co-Researchers

Structural variant analysis in patients with congenital anomalies using whole-genome mappingPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Diagnostic challenge using new methods in exome-negative patientsPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Genetic and genomic analysis on the patients with multiple congenital anomalies

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.2017

Author(s)

Journal Title

Data Source

[Journal Article] Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features.2015

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.2015

Author(s)

Journal Title

DOI

Data Source

[Presentation] エクソーム解析で疾患原因不明の患者に対する 新手法による原因解明の試み2019

Author(s)

Organizer

Data Source

[Presentation] Complex rearrangements of CREBBP detected in patients with Rubinstein-Taybi syndrome (RSTS)2019

Author(s)

Organizer

Data Source

[Presentation] Whole exome sequence identified the deletion in 5' UTR or upstream intronic region of CREBBP in a patient with Rubinstein-Taybi syndrome2018

Author(s)

Organizer

Data Source

[Presentation] The variety of phenotype in patients with rare Japanese-origin homozygous deletion in RECQL42018

Author(s)

Organizer

Data Source

[Presentation] 次世代シーケンサー(NGS)を用いて診断したKBG症候群の2例2016

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

[Presentation] Structural brain abnormalities associated with deletion at chromosome 2p16.1.2016

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

[Presentation] Early development of rare tumors in individuals with congenital malformation syndrome.2016

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

[Presentation] 次世代シーケンサーにより診断されたKBG症候群の臨床像2016

Author(s)

Organizer

Place of Presentation

Enomoto Yumi 榎本友美

ENOMOTO Yumi 榎本友美

[Presentation] エクソーム解析で疾患原因不明の患者に対する新手法による原因解明の試み2019