Ohori Sachiko 尾堀佐知子

… Alternative Names

尾堀佐知子オホリサチコ

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Researcher Number	70601003
Affiliation (Current)	2026: 聖マリアンナ医科大学, 医学部, 講師
Affiliation (based on the past Project Information) *help	2024: 聖マリアンナ医科大学, 医学部, 講師
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related
Keywords	Principal Investigator ゲノム構造異常 / 染色体構造異常 / ターゲットロングリードシークエンス / ロングリードシークエンス

ロングリードシークエンスを用いた染色体構造異常解析による新規疾患遺伝子探索Principal Investigator
- Principal Investigator
  
  尾堀佐知子
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  St. Marianna University School of Medicine

All 2025 2024

All Journal Article Presentation

[Journal Article] Clinical and genetic spectrum of patients with IRF2BPL syndrome2025
- Author(s)
  Iwama Kazuhiro、Kato Mitsuhiro、Uchiyama Yuri、Sakamoto Masamune、Tsuchida Naomi、Hamanaka Kohei、Koshimizu Eriko、Fujita Atsushi、Nakashima Mitsuko、Miyatake Satoko、Sengoku Toru、Ogata Kazuhiro、Saitoh Shinji、Saitsu Hirotomo、Ito Shuichi、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 70 Issue: 4 Pages: 181-188
- DOI
  10.1038/s10038-025-01316-2
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K16862, KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27566, KAKENHI-PROJECT-23K27568, KAKENHI-PROJECT-24K02230, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-24K18862, KAKENHI-PROJECT-24K18897
[Journal Article] Triple mosaic variants of PURA in a patient with multiple congenital anomalies2025
- Author(s)
  Fujita Atsushi、Suenaga Yuta、Takeshita Eri、Takahashi Yuji、Suzuki Yuichi、Ohori Sachiko、Tsuchida Naomi、Uchiyama Yuri、Koshimizu Eriko、Miyatake Satoko、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 70 Issue: 4 Pages: 227-230
- DOI
  10.1038/s10038-024-01315-9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568, KAKENHI-PROJECT-24K02230, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-24K18897
[Journal Article] Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report2024
- Author(s)
  Tsuburaya-Suzuki Rie、Ohori Sachiko、Hamanaka Kohei、Fujita Atsushi、Matsumoto Naomichi、Kinoshita Masako
- Journal Title
  
  Frontiers in Genetics
  
  Volume: 15 Pages: 1410979-1410979
- DOI
  10.3389/fgene.2024.1410979
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-24K02230, KAKENHI-PROJECT-24K18897
[Journal Article] Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies2024
- Author(s)
  Ohori Sachiko、Numabe Hironao、Mitsuhashi Satomi、Tsuchida Naomi、Uchiyama Yuri、Koshimizu Eriko、Hamanaka Kohei、Misawa Kazuharu、Miyatake Satoko、Mizuguchi Takeshi、Fujita Atsushi、Matsumoto Naomichi
- Journal Title
  
  Genomics
  
  Volume: 116 Issue: 5 Pages: 110894
- DOI
  10.1016/j.ygeno.2024.110894
- URL
  https://marianna-u.repo.nii.ac.jp/records/2000988
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568, KAKENHI-PROJECT-24K02230, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-24K18897
[Presentation] The characteristics of BRCA deleterious alteration in metastatic castration-resistant prostate cancer-patient2024
- Author(s)
  津村秀康, 高口大, 荒木尚美, 川田莉佳, 高橋恵子, 白井宏直, 荒木正雄, 板倉彰子, 飯田祐一郎, 尾堀佐知子, 藁谷美奈, 松本和将, 高田史男
- Organizer
  日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-24K18897
[Presentation] The feelings of the family of a child diagnosed with SMA following extended NBS and the limitations of genetic analysis2024
- Author(s)
  荻原眞帆, 小野結佳, 小澤南, 松永綾子, 尾堀佐知子, 宮本雄策, 清水直樹, 右田王介
- Organizer
  日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-24K18897
[Presentation] Establishment of Medical Collaboration System for Hereditary Breast and Ovarian Cancer in the Central Area of Kanagawa2024
- Author(s)
  川田莉佳, 荒木尚美, 尾堀佐知子, 三階貴史, 加藤一喜, 古川正義, 津村秀康, 奥脇興介, 藁谷美奈, 荒木正雄, 西宮洋史, 新井努, 長谷川哲哉, 小坂愉賢, 高田史男
- Organizer
  日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-24K18897
[Presentation] Identification of the allelic origins of different somatic PURA variants by targeted long-read sequencing2024
- Author(s)
  藤田京志, 竹下絵里, 末永祐太, 高橋祐二, 尾堀佐知子, 土田奈緒美, 内山由理, 三澤計治, 輿水江里子, 宮武聡子, 水口剛, 松本直通
- Organizer
  日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-24K18897
[Presentation] Pathological Evaluation Methods in Contralateral Risk-reduction Mastectomy in Patients with BRCA Positive Breast Cancer2024
- Author(s)
  本吉愛, 荻原眞帆, 小野結佳, 小澤南, 鈴木由妃, 杉下陽堂, 吉岡耕平, 尾堀佐知子, 右田王介, 津川浩一郎
- Organizer
  日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-24K18897
[Presentation] Re-evaluation of comprehensive genetic analysis data for rare and undiagnosed disease cases2024
- Author(s)
  高橋恵子, 谷口公介, 尾堀佐知子, 川田莉佳, 荒木尚美, 兒崎智子, 堀あすか, 秦健一郎, 高田史男
- Organizer
  日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-24K18897
[Presentation] Considerations from our experiences in cancer genomic medicine2024
- Author(s)
  荒木尚美, 津村秀康, 尾堀佐知子, 川田莉佳, 荒木正雄, 藁谷美奈, 高田史男
- Organizer
  日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-24K18897
[Presentation] A case of CDKL5 deficiency disorder diagnosed by whole genome sequencing2024
- Author(s)
  尾堀佐知子, 小野結佳, 荻原眞帆, 朱丞華, 小澤南, 三橋里美, 三宅紀子, 右田王介, 山野嘉久
- Organizer
  日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-24K18897

1. 岩間一浩

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
2. 藤田京志

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results

Ohori Sachiko 尾堀 佐知子

尾堀 佐知子 オホリ サチコ

Research Projects

Research Products

Co-Researchers

ロングリードシークエンスを用いた染色体構造異常解析による新規疾患遺伝子探索Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] Clinical and genetic spectrum of patients with IRF2BPL syndrome2025

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Triple mosaic variants of PURA in a patient with multiple congenital anomalies2025

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies2024

Author(s)

Journal Title

DOI

URL

Data Source

[Presentation] The characteristics of BRCA deleterious alteration in metastatic castration-resistant prostate cancer-patient2024

Author(s)

Organizer

Data Source

[Presentation] The feelings of the family of a child diagnosed with SMA following extended NBS and the limitations of genetic analysis2024

Author(s)

Organizer

Data Source

[Presentation] Establishment of Medical Collaboration System for Hereditary Breast and Ovarian Cancer in the Central Area of Kanagawa2024

Author(s)

Organizer

Data Source

[Presentation] Identification of the allelic origins of different somatic PURA variants by targeted long-read sequencing2024

Author(s)

Organizer

Data Source

[Presentation] Pathological Evaluation Methods in Contralateral Risk-reduction Mastectomy in Patients with BRCA Positive Breast Cancer2024

Author(s)

Organizer

Data Source

[Presentation] Re-evaluation of comprehensive genetic analysis data for rare and undiagnosed disease cases2024

Author(s)

Organizer

Data Source

[Presentation] Considerations from our experiences in cancer genomic medicine2024

Author(s)

Organizer

Data Source

[Presentation] A case of CDKL5 deficiency disorder diagnosed by whole genome sequencing2024

Author(s)

Organizer

Data Source

Ohori Sachiko 尾堀佐知子

尾堀佐知子オホリサチコ