Ohori Sachiko

オホリサチコ | Ohori Sachiko

Affiliation and department：
Job title： Assistant Professor

Research field (2)： Genetics , Obstetrics and gynecology

Research keywords (3)：全ゲノム解析 , Long read sequencing , Human genetics

Research theme for competitive and other funds (1)：

Papers (16)：

Kazuhiro Iwama, Mitsuhiro Kato, Yuri Uchiyama, Masamune Sakamoto, Ryosuke Miyamoto, Yuishin Izumi, Kei Ohashi, Ayako Hattori, Noboru Yoshida, Yoshiteru Azuma, et al. Clinical and genetic spectrum of patients with IRF2BPL syndrome. Journal of human genetics. 2025
Atsushi Fujita, Yuta Suenaga, Eri Takeshita, Yuji Takahashi, Yuichi Suzuki, Sachiko Ohori, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Satoko Miyatake, et al. Triple mosaic variants of PURA in a patient with multiple congenital anomalies. Journal of human genetics. 2025
Sachiko Ohori, Hironao Numabe, Satomi Mitsuhashi, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, et al. Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies. Genomics. 2024. 110894-110894
Rie Tsuburaya-Suzuki, Sachiko Ohori, Kohei Hamanaka, Atsushi Fujita, Naomichi Matsumoto, Masako Kinoshita. Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report. Frontiers in genetics. 2024. 15. 1410979-1410979
Yusuke Noda, Jun Kido, Yohei Misumi, Keishin Sugawara, Sachiko Ohori, Atsushi Fujita, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura. Heterozygous c.175C>T variant in PURA gene causes severe developmental delay. Clinical case reports. 2023. 11. 9. e7779

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MISC (17)：

尾堀佐知子. 【婦人科がん化学療法の進化-最適レジメンと管理を考える-】レジメン選択に関する検査卵巣がんにおける相同組換え修復欠損検出検査. 産科と婦人科. 2024. 91. 3. 235-239
保坂千秋, 浜之上はるか, 高橋里奈, 栗城紘子, 田野島美城, 土井宏, 尾堀佐知子, 須郷慶信, 宮武聡子, 宮城悦子, et al. 診療科連携により反復発作性運動失調症の遺伝学的診断に至った一例. 日本遺伝カウンセリング学会誌. 2022. 43. 2. 112-112
田野島美城, 浜之上はるか, 保坂千秋, 栗城紘子, 尾堀佐知子, 須郷慶信, 進藤亮輔, 岩田亜貴子, 中西沙由里, 宮武聡子, et al. Nuchal Translucency(NT)肥厚症例の転機. 日本遺伝カウンセリング学会誌. 2021. 42. 2. 83-83
小田上瑞葉, 善方裕美, 須郷慶信, 尾堀佐知子, 倉澤健太郎, 中村朋美, 菊地律子, 榊原秀也, 宮城悦子. 妊娠授乳関連骨粗鬆症の実態調査神奈川県内の分娩取扱施設へのアンケート調査より. 日本女性医学学会雑誌. 2018. 26. Suppl. 158-158
佐々木元子, 浜之上はるか, 須郷慶信, 尾堀佐知子, 宮武聡子, 田野島美城, 石川浩史, 鈴木理絵, 沢井かおり, 望月昭彦, et al. 当院における無侵襲的出生前遺伝学的検査(NIPT)で判定保留となった症例の転帰. 日本遺伝カウンセリング学会誌. 2017. 38. 2. 137-137

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Books (2)：

Professional career (2)：

Work history (4)：

2024/04 - 現在 St.Marianna University School of Medicine
2022/04 - 2024/03 北里大学病院遺伝診療部助教
2018/04 - 2022/03 Yokohama City University
- 2018/03 Yokohama City University Hospital, Obstetrics & Gynecology,Women's Health Assistant Professor

Committee career (1)：

Awards (1)：

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