Inoue Satomi 井上沙聡

Researcher Number	10870074
Affiliation (Current)	2025: 独立行政法人国立病院機構(東京医療センター臨床研究センター), その他部局等, 研究員
Affiliation (based on the past Project Information) *help	2020 – 2024: 独立行政法人国立病院機構(東京医療センター臨床研究センター), その他部局等, 研究員
Review Section/Research Field	Principal Investigator Basic Section 58060:Clinical nursing-related
Keywords	Principal Investigator 遠隔医療 / 遺伝カウンセリング / ゲノム医療 / 遺伝学的検査

Research on the Creation of Evidence for Remote Genetic Counseling in Genetic Medicine in the Post-COVID EraPrincipal Investigator
- Principal Investigator
  
  井上沙聡
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 58060:Clinical nursing-related
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
The practice of telegenic counseling to address unmet needs in genetic medicinePrincipal Investigator
- Principal Investigator
  
  井上沙聡
- Project Period (FY)
  2020 – 2024
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 58060:Clinical nursing-related
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)

All 2023 2022 2021 2020

All Journal Article Presentation

[Journal Article] The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition2023
- Author(s)
  Yamazawa Kazuki、Sugano Kokichi、Tanakaya Kohji、Inoue Satomi、Murakami Haruka、Nakashima Moeko、Adachi Masataka、Oki Shinya、Makabe Takeshi、Yamashita Hiroshi、Ueki Arisa、Sasaoka Ayako、Nakashoji Ayako、Kinoshita Takayuki、Matsunaga Tatsuo、Arai Masami、Nakamura Seigo、Miyata Hiroaki、Ikegami Masachika, et al.
- Journal Title
  
  Cancer Science
  
  Volume: - Issue: 7 Pages: 2993-3002
- DOI
  10.1111/cas.15799
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-20K19082, KAKENHI-PROJECT-17K16881, KAKENHI-PROJECT-23K24309, KAKENHI-PROJECT-22K15571, KAKENHI-PROJECT-21H02795
[Journal Article] Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population2022
- Author(s)
  Murakami Haruka、Tanimoto Yoko、Tanimoto Kojiro、Inoue Satomi、Ishikawa Taisuke、Makita Naomasa、Yamazawa Kazuki
- Journal Title
  
  Human Genome Variation
  
  Volume: 9 Issue: 1 Pages: 28-28
- DOI
  10.1038/s41439-022-00206-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-20K19082, KAKENHI-PROJECT-21H02920, KAKENHI-PROJECT-23K24309
[Journal Article] A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma2022
- Author(s)
  Yagi Yasuto、Abeto Naoko、Shiraishi Junichi、Miyata Chieko、Inoue Satomi、Murakami Haruka、Nakashima Moeko、Sugano Kokichi、Ushiama Mineko、Yoshida Teruhiko、Yamazawa Kazuki
- Journal Title
  
  Human Genome Variation
  
  Volume: 9 Issue: 1
- DOI
  10.1038/s41439-021-00180-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03628, KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-20K19082
[Journal Article] Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts2022
- Author(s)
  Nakano Atsuko、Arimoto Yukiko、Mutai Hideki、Nara Kiyomitsu、Inoue Satomi、Matsunaga Tatsuo
- Journal Title
  
  International Journal of Pediatric Otorhinolaryngology
  
  Volume: 152 Pages: 110975-110975
- DOI
  10.1016/j.ijporl.2021.110975
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K19082, KAKENHI-PROJECT-21K09598
[Journal Article] A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder2021
- Author(s)
  Yamazawa Kazuki、Shimizu Kenji、Ohashi Hirofumi、Haruna Hidenori、Inoue Satomi、Murakami Haruka、Matsunaga Tatsuo、Iwata Takeshi、Tsunoda Kazushige、Fujinami Kaoru
- Journal Title
  
  Human Genome Variation
  
  Volume: 8 Issue: 1
- DOI
  10.1038/s41439-021-00178-2
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03628, KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-20K19082
[Presentation] Distinct clinical effect of two RP1L1 hotspots of Occult Macular Dystrophy (Miyake disease); Identification of variant-based genotype by deep learning2023
- Author(s)
  Yu Fujinami-Yokokawa, Kwangsic Joo, Xiao Liu, Lizhu Yang, Kazushige Tsunoda, Mineo Kondo, Seong Joon Ahn, Satomi Inoue, Kazuki Yamazawa, Tatsuo Matsunaga, Izumi Naka, Jun Ohashi, Hisateru Tachimori, Hiroaki Miyata, Ruifang Sui, Se Joon Woo, Kaoru Fujinami
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] 遺伝医療のunmet needsを解決するための遠隔遺伝カウンセリングの実践2023
- Author(s)
  村上遥香, 井上沙聡, 松永達雄, 藤波芳, 山澤一樹
- Organizer
  第47回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] Occult Macular Dysfunction Syndrome: Identification of multiple causative genes of macular dysfunction with normal fundus2023
- Author(s)
  Kaoru Fujinami, Yu Fujinami-Yokokawa, Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, Xiao Liu, Mineo Kondo, Izumi Naka, Jun Ohashi, Satomi Inoue, Kazuki Yamazawa, Tatsuo Matsunaga, Hisateru Tachimori, Hiroaki Miyata, Se Joon Woo, Ruifang Sui
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] Genetic approach to improve clinical practice for deafblindness in Japan2023
- Author(s)
  Tatsuo Matsunaga, Kiyomitsu Nara, Hideki Mutai, Haruka Murakami, Satomi Inoue, Reiko Muramatsu, Kazuki Yamazawa, Shujiro Minami, Kaoru Fujinami, Fujioka Masato, Nobuko Yamamoto, Noriko Morimoto, Nana Tsuchihashi, Masatsugu Masuda, Yukiko Arimoto, Atsuko Nakano, Hirokazu Sakamoto, Toshiyuki Seto, et al.
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] Generating evidence to improve clinical practice for patients with hearing loss associated with eye disorders2023
- Author(s)
  Tatsuo Matsunaga, Kiyomitsu Nara, Hideki Mutai, Haruka Murakami, Satomi Inoue, Reiko Muramatsu, Kazuki Yamazawa, Shujiro Minami, Kimitaka Kaga
- Organizer
  CORLAS 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] 遺伝性網膜ジストロフィにおける遺伝子パネル検査を用いた遺伝子診断の先進医療2023
- Author(s)
  前田亜希子, 横田聡, 浦川優作, 吉田晶子, 稲葉慧, 河合加奈子, 松崎光博, 酒井大輝, 田保和也, 木場みゆき, 山本翠, 許沢尚弘, 北畑将平, 前田忠郎, 万代道子, 村上遥香, 井上沙聡, 中村奈津子, 藤波芳, 山澤一樹, 角田和繁, 森貞直哉, 平見恭彦, 栗本康夫, 高橋政代
- Organizer
  第127回日本眼科学会総会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] Efficient identification of causative genes of hearing loss by phenotype similarity analysis2023
- Author(s)
  Hideki Mutai, Fuyuki Miya, Kiyomitsu Nara, Reiko Muramatsu, Satomi Inoue, Haruka Murakami, Shujiro Minami, Atsuko Nakano, Yukiko Arimoto, Noriko Morimoto, Taiji Kawasaki, Koichiro Wasano, Hirokazu Sakamoto, Sayaka Katsunuma, Sawako Masuda, Kazuki Yamazawa, Kenjiro Kosaki, Tatsuhiko Tsunoda, Tatsuo Matsunaga
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition2023
- Author(s)
  Kazuki Yamazawa, Kokichi Sugano, Kohji Tanakaya, Satomi Inoue, Haruka Murakami, Moeko Nakashima, Masataka Adachi, Shinya Oki, Takeshi Makabe, Hiroshi Yamashita, Arisa Ueki, Ayako Sasaoka, Ayako Nakashoji, Takayuki Kinoshita, Tatsuo Matsunaga, Masami Arai, Seigo Nakamura, Hiroaki Miyata, Masachika Ikegami, et al.
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] A retrospective analysis of presumed germline pathogenic variants in the comprehensive genomic profiling test for cancer2023
- Author(s)
  Haruka Murakami, Satomi Inoue, Tatsuo Matsunaga, Kohei Nakamura, Hiroshi Nishihara, Yasutaka Sukawa, Yoshitaka Oyamada, Takayuki Kinoshita, Kazuki Yamazawa
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] 遺伝性網膜疾患パネル検査に伴う遺伝カウンセリングのニーズおよび有用性の質問紙調査2023
- Author(s)
  吉田晶子, 稲葉慧, 浦川優作, 河合加奈子, 角田和繁, 藤波芳, 村上遥香, 井上沙聡, 山澤一樹, 横田聡, 平見恭彦, 高橋政代, 栗本康夫, 前田亜希子
- Organizer
  第47回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] 症候群性または非症候群性難聴を呈したのMTTS1遺伝子バリアント７家系の報告2022
- Author(s)
  南修司郎、喜田有未来、井上沙聡、奈良清光、務台英樹、山澤一樹、松永達雄
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] BRCA病的バリアント陽性者における乳癌の臨床病理学的特徴2022
- Author(s)
  小谷依里奈、松井哲、村田有也、笹岡綾子、村上遙香、井上沙聡、山澤一樹、木下貴之
- Organizer
  第60回日本癌治療学会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] 難聴の遺伝学的検査で検出されるバリアントの評価と遺伝カウンセリング2022
- Author(s)
  松永達雄、奈良清光、務台英樹、井上沙聡、村上遥香、村松玲子、山本修子、和佐野浩一郎、南修司郎、加我君孝
- Organizer
  第123回日本耳鼻咽喉科頭頸部外科学会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] がんゲノムプロファイリング検査でATM遺伝子に病的バリアントを認め家族への介入につながった遺伝性膵癌の一家系2022
- Author(s)
  村上遥香、井上沙聡、川口義樹、須河恭敬、吉田康祐、松井哲、松永達雄、山澤一樹
- Organizer
  第46回日本遺伝カウンセリング学会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] 当院で経験したBirt-Hogg-Dube症候群の3家系2022
- Author(s)
  村上遥香、井上沙聡、安齋純子、松永達雄、小山孝彦、古屋充子、山澤一樹
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.2021
- Author(s)
  Yamazawa K, Yagi Y, Abeto N, Shiraishi J, Miyata C, Inoue S, Murakami H, Nakashima M, Sugano K, Ushiama M, Yoshida T.
- Organizer
  日本人類遺伝学会第66回大会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] 2p15p16.1微細欠失症候群とRP2関連網膜症を合併した男児例.2021
- Author(s)
  山澤一樹, 清水健司, 大橋博文, 春名英典, 井上沙聡, 村上遙香, 松永達雄, 岩田岳, 角田和繁, 藤波芳.
- Organizer
  第44回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] Auditory neuropathyあるいはそれに類似した聴覚検査所見を呈したMTTS1遺伝子変異3家系5例.2021
- Author(s)
  喜田有未来, 南修司郎, 奈良清光, 井上沙聡, 務台英樹, 和佐野浩一郎, 森田訓子, 加我君孝, 松永達雄.
- Organizer
  第31回日本耳科学会総会・学術講演会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] DSG2遺伝子における東アジア人のfounder variantをホモ接合性に同定したARVCの一例2021
- Author(s)
  村上遥香, 谷本陽子, 谷本耕司郎, 井上沙聡, 石川泰輔, 蒔田直昌, 山澤一樹.
- Organizer
  日本人類遺伝学会第66回大会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] 若年発症型両側性感音難聴の発症後早期の臨床的特徴.2021
- Author(s)
  松永達雄, 務台英樹, 奈良清光, 井上沙聡, 村松玲子, 森田訓子, 黒木良子, 内田育恵, 阪本浩一, 川崎泰士, 平賀良彦, 南修司郎, 山本修子, 和佐野浩一郎, 加我君孝.
- Organizer
  第66回日本聴覚医学会総会・学術講演会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] 当院におけるBRCA1/2遺伝学的検査の現状と課題2021
- Author(s)
  井上沙聡, 安齋純子, 安達将隆, 大木慎也, 笹岡綾子, 中小路絢子, 笹原真奈美, 山下博, 松井哲, 松永達雄, 山澤一樹.
- Organizer
  第45回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] 当院を受診した難聴者に対する遺伝子診断と遺伝カウンセリングの現況.2021
- Author(s)
  井上沙聡, 奈良清光, 務台英樹, 南修司郎, 加我君孝, 和佐野浩一郎, 松永達雄.
- Organizer
  第31回日本耳科学会総会・学術講演会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] Alport症候群9家系におけるサブタイプ別聴覚および聴力経過の検討2020
- Author(s)
  松﨑佐栄子, 松永達雄, 務台英樹, 奈良清光, 井上沙聡, 細谷誠, 藤岡正人, 小川郁
- Organizer
  第65回日本聴覚医学会学術集会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] Clinical and molecular characterization of a Japanese patient with auditory neuropathy spectrum disorder associated with m.7471dupC heteroplasmy2020
- Author(s)
  Shujiro Minami, Satomi Inoue, Kiyomitsu Nara, Hideki Mutai, Tatsuo Matsunaga
- Organizer
  人類遺伝学会学術集会第65回大会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] 進行・再発乳癌患者に対するBRCA遺伝子検査とOlaparib投与症例の検討2020
- Author(s)
  松井哲, 柵木晴妃, 岩田侑子, 市村佳子, 原田華子, 笹原真奈美, 村田有也, 笹岡綾子, 井上沙聡, 山澤一樹, 木下貴之
- Organizer
  第28回日本乳癌学会学術集会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] 娘のBRACAnalysisを契機に未発症病的バリアント保持者であることが判明し、RRSOを施行した1例2020
- Author(s)
  井上沙聡, 安齋純子, 山澤一樹, 安達将隆, 大木慎也, 植木有紗, 笹岡綾子, 柵木晴妃, 岩田侑子, 市村佳子, 笹原真奈美, 山下博, 松井哲, 松永達雄
- Organizer
  第44回遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-20K19082
[Presentation] 日本人で新たに発見された難聴遺伝子SLC12A4による難聴4家系8例の聴覚所見2020
- Author(s)
  松永達雄, 務台英樹, 和佐野浩一郎, 奈良清光, 井上沙聡, 増田佐和子, 守本倫子
- Organizer
  第65回日本聴覚医学会学術集会
- Data Source
  KAKENHI-PROJECT-20K19082

1. 山澤一樹 (10338113)

# of Collaborated Projects: 1 results

# of Collaborated Products: 4 results

Inoue Satomi 井上 沙聡

Research Projects

Research Products

Co-Researchers

Research on the Creation of Evidence for Remote Genetic Counseling in Genetic Medicine in the Post-COVID EraPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

The practice of telegenic counseling to address unmet needs in genetic medicinePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder2021

Author(s)

Journal Title

DOI

Data Source

[Presentation] Distinct clinical effect of two RP1L1 hotspots of Occult Macular Dystrophy (Miyake disease); Identification of variant-based genotype by deep learning2023

Author(s)

Organizer

Data Source

[Presentation] 遺伝医療のunmet needsを解決するための遠隔遺伝カウンセリングの実践2023

Author(s)

Organizer

Data Source

[Presentation] Occult Macular Dysfunction Syndrome: Identification of multiple causative genes of macular dysfunction with normal fundus2023

Author(s)

Organizer

Data Source

[Presentation] Genetic approach to improve clinical practice for deafblindness in Japan2023

Author(s)

Organizer

Data Source

[Presentation] Generating evidence to improve clinical practice for patients with hearing loss associated with eye disorders2023

Author(s)

Organizer

Data Source

[Presentation] 遺伝性網膜ジストロフィにおける遺伝子パネル検査を用いた遺伝子診断の先進医療2023

Author(s)

Organizer

Data Source

[Presentation] Efficient identification of causative genes of hearing loss by phenotype similarity analysis2023

Author(s)

Organizer

Data Source

[Presentation] The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition2023

Author(s)

Organizer

Data Source

[Presentation] A retrospective analysis of presumed germline pathogenic variants in the comprehensive genomic profiling test for cancer2023

Author(s)

Organizer

Data Source

[Presentation] 遺伝性網膜疾患パネル検査に伴う遺伝カウンセリングのニーズおよび有用性の質問紙調査2023

Author(s)

Organizer

Inoue Satomi 井上沙聡

[Presentation] 娘のBRACAnalysisを契機に未発症病的バリアント保持者であることが判明し、RRSOを施行した1例2020