UEHARA Daniela Tiaki ウエハラダニエラチアキ

Researcher Number	90779513
Other IDs
Affiliation (based on the past Project Information) *help	2017 – 2018: 東京医科歯科大学, 難治疾患研究所, 特任助教
Review Section/Research Field	Principal Investigator Medical genome science
Keywords	Principal Investigator 医療・福祉 / 遺伝子 / 遺伝学 / ゲノム / Candidate gene / Sequencing / Congenital anomalies / Intellectual disability

Investigation of novel genes responsible for intellectual disability and multiple congenital anomalies of unknown etiologyPrincipal Investigator
- Principal Investigator
  
  UEHARA Daniela Tiaki
- Project Period (FY)
  2017 – 2018
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Medical genome science
- Research Institution
  Tokyo Medical and Dental University

All 2018 2017

All Journal Article Presentation

[Journal Article] Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)2017
- Author(s)
  Hayashi S, Uehara DT, Tanimoto K, Mizuno S, Chinen Y, Furukawa S, Takanashi J, Osaka H, Okamoto N, Inazawa J.
- Journal Title
  
  PLoS One
  
  Volume: 12 Issue: 8 Pages: e0181791-e0181791
- DOI
  10.1371/journal.pone.0181791
- NAID
  120006825904
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K10329, KAKENHI-PROJECT-17K17693
[Presentation] Targeted resequencing in 105 subjects with undiagnosed intellectual disability and multiple congenital anomalies.2018
- Author(s)
  Uehara DT, Tanimoto K, Inazawa J
- Organizer
  The 63rd Annual Meeting of The Japanese Society of Human Genetics
- Data Source
  KAKENHI-PROJECT-17K17693
[Presentation] Targeted next-generation resequencing analysis in 105 subjects with undiagnosed intellectual disability and multiple congenital anomalies.2018
- Author(s)
  Uehara DT, Tanimoto K, Inazawa J
- Organizer
  The 68th Annual Meeting of The American Society of Human Genetics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K17693
[Presentation] Targeted resequencing of 75 genes in subjects with undiagnosed intellectual disability and multiple congenital anomalies2017
- Author(s)
  Uehara DT, Tanimoto K, Inazawa J
- Organizer
  The 62nd Annual Meeting of The Japan Society of Human Genetics
- Data Source
  KAKENHI-PROJECT-17K17693
[Presentation] Targeted next-generation sequencing of 75 genes in Japanese patients with intellectual disability and multiple congenital anomalies of unknown etiology2017
- Author(s)
  Uehara DT, Tanimoto K, Inazawa J
- Organizer
  The 67th Annual Meeting of The American Society of Human Genetics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K17693

1. 高梨潤一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

UEHARA Daniela Tiaki ウエハラダニエラチアキ

Research Projects

Research Products

Co-Researchers

Investigation of novel genes responsible for intellectual disability and multiple congenital anomalies of unknown etiologyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)2017

Author(s)

Journal Title

DOI

NAID

Data Source

[Presentation] Targeted resequencing in 105 subjects with undiagnosed intellectual disability and multiple congenital anomalies.2018

Author(s)

Organizer

Data Source

[Presentation] Targeted next-generation resequencing analysis in 105 subjects with undiagnosed intellectual disability and multiple congenital anomalies.2018

Author(s)

Organizer

Data Source

[Presentation] Targeted resequencing of 75 genes in subjects with undiagnosed intellectual disability and multiple congenital anomalies2017

Author(s)

Organizer

Data Source

[Presentation] Targeted next-generation sequencing of 75 genes in Japanese patients with intellectual disability and multiple congenital anomalies of unknown etiology2017

Author(s)

Organizer

Data Source

UEHARA Daniela Tiaki ウエハラ ダニエラチアキ

Research Projects

Research Products

Co-Researchers

Investigation of novel genes responsible for intellectual disability and multiple congenital anomalies of unknown etiologyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)2017

Author(s)

Journal Title

DOI

NAID

Data Source

[Presentation] Targeted resequencing in 105 subjects with undiagnosed intellectual disability and multiple congenital anomalies.2018

Author(s)

Organizer

Data Source

[Presentation] Targeted next-generation resequencing analysis in 105 subjects with undiagnosed intellectual disability and multiple congenital anomalies.2018

Author(s)

Organizer

Data Source

[Presentation] Targeted resequencing of 75 genes in subjects with undiagnosed intellectual disability and multiple congenital anomalies2017

Author(s)

Organizer

Data Source

[Presentation] Targeted next-generation sequencing of 75 genes in Japanese patients with intellectual disability and multiple congenital anomalies of unknown etiology2017

Author(s)

Organizer

Data Source

UEHARA Daniela Tiaki ウエハラダニエラチアキ