Yamada Mamiko 山田茉未子

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YAMADA Mamiko 山田茉未子

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Researcher Number	60835601
Other IDs
Affiliation (Current)	2025: 慶應義塾大学, 医学部(信濃町), 講師
Affiliation (based on the past Project Information) *help	2023: 慶應義塾大学, 医学部(信濃町), 講師 2019 – 2022: 慶應義塾大学, 医学部(信濃町), 助教
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Basic Section 57070:Developmental dentistry-related
Keywords	Principal Investigator スプライシング異常 / RNAシーケンシング / キメラ遺伝子 / トランスクリプトーム解析 / スプライシング / 長鎖型シーケンサー / ゲノム解析 / 口唇口蓋裂 / 偽エクソン形成 / 深部イントロン変異 / 統合解析 / トランスクリプトーム / スプラシング

長鎖型次世代シーケンシング技術を用いた口唇口蓋裂の発症機序の解明Principal Investigator
- Principal Investigator
  
  山田茉未子
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 57070:Developmental dentistry-related
- Research Institution
  Keio University
末梢血トランスクリプトームの外れ値解析：エクソーム解析の限界を超えるアプローチPrincipal Investigator
- Principal Investigator
  
  山田茉未子
- Project Period (FY)
  2021 – 2024
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Keio University
Effects of splicing variants on post-transcriptional sequence: integrated genome and transcriptome analysisPrincipal Investigator
- Principal Investigator
  
  YAMADA Mamiko
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Keio University

All 2024 2022 2021 2020 2019

All Journal Article Presentation

[Journal Article] Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration2024
- Author(s)
  Mamiko Yamada, Kazuhiro Maeta, Hisato Suzuki, Ryo Kurosawa, Toshiki Takenouchi, Tomonari Awaya , Masahiko Ajiro , Atsuko Takeuchi, Hisahide Nishio , Masatoshi Hagiwara , Fuyuki Miya, Masafumi Matsuo, Kenjiro Kosaki
- Journal Title
  
  Sci Rep .
  
  Volume: - Issue: 1 Pages: 6506-6506
- DOI
  10.1038/s41598-024-56704-z
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K15873, KAKENHI-PROJECT-22KJ2023, KAKENHI-PROJECT-21K07762, KAKENHI-PROJECT-23K27379
[Journal Article] Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations2022
- Author(s)
  Hisato Suzuki, Masatoshi Nozaki, Hiroshi Yoshihashi, Kazuo Imagawa, Daigo Kajikawa, Mamiko Yamada, Yu Yamaguchi, Naoya Morisada, Mayuko Eguchi, Shoko Ohashi, Shinsuke Ninomiya, Toshiyuki Seto, Tomoharu Tokutomi, Mariko Hida, Katsuaki Toyoshima, Kenjiro Kosaki, Toshiki Takenouchi, et al.
- Journal Title
  
  The Journal of Pediatrics
  
  Volume: - Pages: 38-48.e1
- DOI
  10.1016/j.jpeds.2022.01.033
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K15873
[Journal Article] Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants2021
- Author(s)
  Yamada Mamiko、Ono Masae、Ishii Tomohiro、Suzuki Hisato、Uehara Tomoko、Takenouchi Toshiki、Kosaki Kenjiro
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 185 Issue: 6 Pages: 1836-1840
- DOI
  10.1002/ajmg.a.62152
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17342
[Journal Article] Protein elongation variant of PUF60 : Milder phenotypic end of the Verheij syndrome2020
- Author(s)
  Yamada Mamiko、Uehara Tomoko、Suzuki Hisato、Takenouchi Toshiki、Kosaki Kenjiro
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 182 Issue: 11 Pages: 2709-2714
- DOI
  10.1002/ajmg.a.61816
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17342
[Journal Article] Role of chimeric transcript formation in the pathogenesis of birth defects2020
- Author(s)
  Yamada Mamiko、Suzuki Hisato、Watanabe Akiko、Uehara Tomoko、Takenouchi Toshiki、Mizuno Seiji、Kosaki Kenjiro
- Journal Title
  
  Congenital Anomalies
  
  Volume: － Issue: 3 Pages: 76-81
- DOI
  10.1111/cga.12400
- NAID
  210000158608
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17342
[Journal Article] Shortfall of Exome Analysis for Diagnosis of Shwachman-Diamond Syndrome: Mismapping due to the Pseudogene SBDSP12020
- Author(s)
  Yamada Mamiko、Uehara Tomoko、Suzuki Hisato、Takenouchi Toshiki, Inui Ayano, Ikemiyagi Masako, Kamimaki Isamu, and Kosaki Kenjiro
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: - Issue: 7 Pages: 1631-1636
- DOI
  10.1002/ajmg.a.61598
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K17342
[Journal Article] Learning disability and myoclonic epilepsy associated with apparently synonymous but splice‐disrupting JMJD1C variant that led to 21?bp deletion of the transcript2020
- Author(s)
  Yamada Mamiko、Sokoda Tatsuyuki、Uehara Tomoko、Suzuki Hisato、Takenouchi Toshiki、Yagihashi Tatsuhiko、Maruo Yoshihiro、Kosaki Kenjiro
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 182 Issue: 12 Pages: 3064-3067
- DOI
  10.1002/ajmg.a.61892
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07818, KAKENHI-PROJECT-19K17342
[Journal Article] Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities2020
- Author(s)
  Yamada Mamiko、Shiraishi Yuichi、Uehara Tomoko、Suzuki Hisato、Takenouchi Toshiki、Abe‐Hatano Chihiro、Kurosawa Kenji、Kosaki Kenjiro
- Journal Title
  
  Molecular Genetics & Genomic Medicine
  
  Volume: 8 Issue: 9
- DOI
  10.1002/mgg3.1364
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17342
[Journal Article] IFT172 as the 19th gene causative of oral‐facial‐digital syndrome2019
- Author(s)
  Yamada Mamiko、Uehara Tomoko、Suzuki Hisato、Takenouchi Toshiki、Fukushima Hiroyuki、Morisada Naoya、Tominaga Kenta、Onoda Motohiro、Kosaki Kenjiro
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 179 Issue: 12 Pages: 2510-2513
- DOI
  10.1002/ajmg.a.61373
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-19K17342
[Journal Article] Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders2019
- Author(s)
  Yamada Mamiko、Suzuki Hisato、Shiraishi Yuichi、Kosaki Kenjiro
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 21 Pages: 100531-100531
- DOI
  10.1016/j.ymgmr.2019.100531
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K17342, KAKENHI-PROJECT-18H03327
[Presentation] アンチセンス核酸薬による異常スプライシング是正：WDR45の偽エクソン形成に対するアプローチ2024
- Author(s)
  山田茉未子、前田和宏、鈴木寿人、武内俊樹、粟屋智就、萩原正敏、網代将彦、竹内敦子、西尾久英、宮冬樹、松尾雅文、小崎健次郎
- Organizer
  第127回日本小児科学会
- Data Source
  KAKENHI-PROJECT-21K15873
[Presentation] Chimeric transcript formation as a new pathogenetic mechanism of rare and undiagnosed diseases2021
- Author(s)
  山田茉未子、鈴木寿人、渡邊晶子、上原朋子、武内俊樹、水野誠司、小崎健次郎
- Organizer
  第124回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-19K17342
[Presentation] Chimeric transcript formation as a new pathogenetic mechanism of rare and undiagnosed diseases: Analysis using whole genome sequencing and long-read transcriptome sequencing2021
- Author(s)
  山田茉未子、鈴木寿人、渡邊晶子、上原朋子、武内俊樹、水野誠司、小崎健次郎
- Organizer
  2021年欧州人類遺伝学会
- Data Source
  KAKENHI-PROJECT-19K17342
[Presentation] トランスクリプトームおよび全ゲノム解析を用いたキメラ遺伝子形成による先天性遺伝性疾患発症機序の解明2021
- Author(s)
  山田茉未子
- Organizer
  第61回日本先天異常学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-19K17342
[Presentation] RNA解析・全ゲノム解析の医療実装による未診断疾患の解決を目指して2021
- Author(s)
  山田茉未子
- Organizer
  第22回日本RNA学会年会
- Invited
- Data Source
  KAKENHI-PROJECT-21K15873
[Presentation] 小児先天性遺伝性疾患における新たな発症機序の解明―ゲノム構造異常によるキメラ遺伝子形成の網羅的解析―2021
- Author(s)
  山田茉未子、鈴木寿人、水野誠司、渡邊晶子、上原朋子、武内俊樹、小崎健次郎
- Organizer
  第43回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-19K17342
[Presentation] トランスクリプトームおよび全ゲノム解析を用いたキメラ遺伝子形成による先天性遺伝性疾患発症機序の解明2021
- Author(s)
  山田茉未子
- Organizer
  日本先天異常学会
- Data Source
  KAKENHI-PROJECT-21K15873
[Presentation] RNA解析・全ゲノム解析の医療実装による未診断疾患の解決を目指して2021
- Author(s)
  山田茉未子
- Organizer
  第22回日本RNA学会年会
- Invited
- Data Source
  KAKENHI-PROJECT-19K17342
[Presentation] Effectiveness of transcriptome analysis in deciphering molecular pathology of patients with suspected genetic disorders2020
- Author(s)
  Mamiko Yamada
- Organizer
  第43回日本分子生物会
- Invited
- Data Source
  KAKENHI-PROJECT-19K17342
[Presentation] Documentation of IFT172 as the nineteenth gene causative of　oral-facial-digital syndrome underscores the importance of ciliary trafficking in its pathogenesis.2020
- Author(s)
  山田茉未子、小崎健次郎
- Organizer
  2020 Western Medical Research Conference.
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17342
[Presentation] Chimeric transcript formation as a new pathogenetic mechanism of rare and undiagnosed diseases2020
- Author(s)
  山田茉未子、鈴木寿人、水野誠司、渡邊晶子、上原朋子、武内俊樹、小崎健次郎
- Organizer
  第65回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-19K17342
[Presentation] Integration of exome data with transcriptome data increased detection of pathogenic variants by 20% among 179 samplesエクソームとRNA-seq解析を統合させると病的変異の検出はエクソームのみに比較して20%上昇する～179検体の解析から～2019
- Author(s)
  山田茉未子、白石友一、鈴木寿人、小崎健次郎
- Organizer
  第64回日本人類遺伝学会・第19回東アジア人類遺伝学会連合大会
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17342
[Presentation] Effectiveness of integrated interpretation of exome and corresponding transcriptome data in detecting splicing variants: Population and clinical studies.2019
- Author(s)
  山田茉未子、白石友一、鈴木寿人、黒澤健司、小崎健次郎
- Organizer
  第59回日本先天異常学会・The 13th World Congress of International Cleft Lip and Palate foundation CLEFT 合同開催
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17342
[Presentation] IFT172 Mutation as the Nineteenth Cause of Oral-Facial-Digital Syndrome2019
- Author(s)
  山田茉未子、鈴木寿人、上原朋子、武内俊樹、小崎健次郎
- Organizer
  米国人類遺伝学会
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17342
[Presentation] Effectiveness of integrated interpretation of exome and corresponding transcriptome data in detecting splicing variants of recessive disorders.2019
- Author(s)
  山田茉未子、白石友一、鈴木寿人、小崎健次郎
- Organizer
  第52回欧州人類遺伝学会
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17342
[Presentation] Effectiveness of integrated interpretation of exome and corresponding transcriptome data in detecting splicing variants: Population and clinical studies.2019
- Author(s)
  山田茉未子、白石友一、鈴木寿人、小崎健次郎
- Organizer
  Scientific, Practical Conference DYSMORPHOLOGY AUTUMN 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17342

1. MORISADA Naoya

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
2. 丸尾良浩

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Yamada Mamiko 山田 茉未子

YAMADA Mamiko 山田 茉未子

Research Projects

Research Products

Co-Researchers

長鎖型次世代シーケンシング技術を用いた口唇口蓋裂の発症機序の解明Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

末梢血トランスクリプトームの外れ値解析：エクソーム解析の限界を超えるアプローチPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Effects of splicing variants on post-transcriptional sequence: integrated genome and transcriptome analysisPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Protein elongation variant of PUF60 : Milder phenotypic end of the Verheij syndrome2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Role of chimeric transcript formation in the pathogenesis of birth defects2020

Author(s)

Journal Title

DOI

NAID

Data Source

[Journal Article] Shortfall of Exome Analysis for Diagnosis of Shwachman-Diamond Syndrome: Mismapping due to the Pseudogene SBDSP12020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Learning disability and myoclonic epilepsy associated with apparently synonymous but splice‐disrupting JMJD1C variant that led to 21?bp deletion of the transcript2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] IFT172 as the 19th gene causative of oral‐facial‐digital syndrome2019

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders2019

Author(s)

Journal Title

DOI

Data Source

[Presentation] アンチセンス核酸薬による異常スプライシング是正：WDR45の偽エクソン形成に対するアプローチ2024

Author(s)

Organizer

Data Source

[Presentation] Chimeric transcript formation as a new pathogenetic mechanism of rare and undiagnosed diseases2021

Author(s)

Yamada Mamiko 山田茉未子

YAMADA Mamiko 山田茉未子

[Presentation] トランスクリプトームおよび全ゲノム解析を用いたキメラ遺伝子形成による先天性遺伝性疾患発症機序の解明2021

[Presentation] トランスクリプトームおよび全ゲノム解析を用いたキメラ遺伝子形成による先天性遺伝性疾患発症機序の解明2021

[Presentation] Documentation of IFT172 as the nineteenth gene causative of　oral-facial-digital syndrome underscores the importance of ciliary trafficking in its pathogenesis.2020