YAMOTO Kaori 矢本香織

Researcher Number	00906919
Other IDs
Affiliation (Current)	2025: 浜松医科大学, 医学部, 特別研究員
Affiliation (based on the past Project Information) *help	2023: 浜松医科大学, 医学部, 特別研究員 2021 – 2022: 浜松医科大学, 医学部, 特任研究員
Review Section/Research Field	Principal Investigator Basic Section 55010:General surgery and pediatric surgery-related / 0902:General internal medicine and related fields
Keywords	Principal Investigator 全ゲノム解析 / 全エクソーム解析 / 先天性気管狭窄症 / 裂手裂足症 / PORCN / TP63 / 先天性四肢形成不全症

先天性気管狭窄症における遺伝学的原因の探索Principal Investigator
- Principal Investigator
  
  矢本香織
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 55010:General surgery and pediatric surgery-related
- Research Institution
  Hamamatsu University School of Medicine
Clarification of molecular basis of congenital limb anomaliesPrincipal Investigator
- Principal Investigator
  
  YAMOTO Kaori
- Project Period (FY)
  2021 – 2022
- Research Category
  
  Grant-in-Aid for Research Activity Start-up
- Review Section
  
  0902:General internal medicine and related fields
- Research Institution
  Hamamatsu University School of Medicine

All 2023 2022

All Journal Article Presentation

[Journal Article] PORCN-related microphthalmia with limb anomalies: case report and literature review.2023
- Author(s)
  Fukahori K, Yamoto K, Saitsu H, Ogata T, Nagasaki K
- Journal Title
  
  Am J Med Genet A
  
  Volume: 191(2) Issue: 2 Pages: 636-639
- DOI
  10.1002/ajmg.a.63048
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21K20862
[Journal Article] <scp><i>TBX5</i></scp> pathogenic variant in a patient with congenital heart defect and tracheal stenosis2023
- Author(s)
  Yamoto Kaori、Kato Fumiko、Yamoto Masaya、Fukumoto Koji、Shimizu Kenji、Saitsu Hirotomo、Ogata Tsutomu
- Journal Title
  
  Congenital Anomalies
  
  Volume: 64 Issue: 1 Pages: 23-27
- DOI
  10.1111/cga.12548
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K15446
[Journal Article] A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia2022
- Author(s)
  Yamoto K, Okada S, Kato F, Fujisawa Y, Fukami M, Saitsu H, Ogata T
- Journal Title
  
  Am J Med Genet A
  
  Volume: - Issue: 5 Pages: 1612-1617
- DOI
  10.1002/ajmg.a.62649
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21K20862
[Presentation] TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis2023
- Author(s)
  Kaori Yamoto, Fumiko Kato, Masaya Yamoto, Koji Fukumoto, Kenji Shimizu, Hirotomo Saitsu, Tsutomu Ogata
- Organizer
  Human Genetics Asia 2023
- Data Source
  KAKENHI-PROJECT-23K15446
[Presentation] スプライス異常が同定されたfocal dermal hypoplasiaの家族例2022
- Author(s)
  矢本香織、岡田賢、加藤芙弥子、藤澤泰子、深見真紀、才津浩智、緒方勤
- Organizer
  日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-21K20862
[Presentation] 母由来のPORCNミスセンス変異を同定した46, XY男児のPORCN non-Goltz spectrumの1例2022
- Author(s)
  長崎啓祐、深堀響子、矢本香織、才津浩智、緒方勤
- Organizer
  日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-21K20862

1. OGATA Tsutomu

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
2. FUKAMI Maki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

YAMOTO Kaori 矢本 香織

Research Projects

Research Products

Co-Researchers

先天性気管狭窄症における遺伝学的原因の探索Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Clarification of molecular basis of congenital limb anomaliesPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] PORCN-related microphthalmia with limb anomalies: case report and literature review.2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] <scp><i>TBX5</i></scp> pathogenic variant in a patient with congenital heart defect and tracheal stenosis2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia2022

Author(s)

Journal Title

DOI

Data Source

[Presentation] TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis2023

Author(s)

Organizer

Data Source

[Presentation] スプライス異常が同定されたfocal dermal hypoplasiaの家族例2022

Author(s)

Organizer

Data Source

[Presentation] 母由来のPORCNミスセンス変異を同定した46, XY男児のPORCN non-Goltz spectrumの1例2022

Author(s)

Organizer

Data Source

YAMOTO Kaori 矢本香織