日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Clarification of the clinical significance of an intron variant in a case of Peutz-Jeghers syndrome with abnormal RNA splicing of STK11

阐明Peutz-Jeghers综合征伴STK11基因RNA剪接异常病例中内含子变异的临床意义

期刊:Molecular Cytogenetics
影响因子:1.4
doi:10.1186/s13039-025-00710-x
Ishikawa, Aki; Gotoh, Masahiro; Ushiama, Mineko; Sakamoto, Hiromi; Tanabe, Noriko; Watanabe, Tomoko; Cho, Hourin; Yamada, Masayoshi; Sugano, Kokichi; Shiraishi, Kouya; Hirata, Makoto; Yoshida, Teruhiko; Sakurai, Akihiro
STK11
发表日期：2025
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Genomic analysis revealing Lynch syndrome in a case of high-grade glioma: illustrative case

基因组分析揭示一例高级别胶质瘤患者合并林奇综合征：病例分析

期刊:
影响因子:
doi:10.3171/CASE24718
Koizumi, Shinichiro; Iwaizumi, Moriya; Baba, Satoshi; Ushiama, Mineko; Hirata, Makoto; Kurozumi, Kazuhiko
胶质瘤
发表日期：2025
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Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes

评估靶向自适应采样长读长测序在遗传性癌症患者基因组中的有效性

期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-024-00394-z
Nakamura, Wataru; Hirata, Makoto; Oda, Satoyo; Chiba, Kenichi; Okada, Ai; Mateos, Raúl Nicolás; Sugawa, Masahiro; Iida, Naoko; Ushiama, Mineko; Tanabe, Noriko; Sakamoto, Hiromi; Sekine, Shigeki; Hirasawa, Akira; Kawai, Yosuke; Tokunaga, Katsushi; Tsujimoto, Shin-Ichi; Shiba, Norio; Ito, Shuichi; Yoshida, Teruhiko; Shiraishi, Yuichi
肿瘤
肿瘤免疫
发表日期：2024
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Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL

一名患有VHL基因新型框内重复变异的儿童出现家族性早期复发性嗜铬细胞瘤

期刊:Clinical Pediatric Endocrinology
影响因子:1.2
doi:10.1297/cpe.2024-0020
Suzuki, Yuri; Iemura, Ryosei; Sutani, Akito; Mizuno, Yuki; Adachi, Eriko; Ushiama, Mineko; Yoshida, Teruhiko; Hirata, Makoto; Hoshino, Akihiro; Yamomoto, Kurara; Akashi, Takumi; Nakano, Yoshiko; Isoda, Takeshi; Takasawa, Kei; Kato, Motohiro; Takagi, Masatoshi; Okamoto, Kentaro; Morio, Tomohiro; Kashimada, Kenichi
嗜铬细胞瘤
细胞生物学
VHL
发表日期：2024
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Familial Adenomatous Polyposis with Atypical Clinical Morphology and Genetic Variants

具有非典型临床形态和遗传变异的家族性腺瘤性息肉病

期刊:Internal Medicine
影响因子:1.1
doi:10.2169/internalmedicine.2050-23
Komeda, Yoriaki; Ishikawa, Hideki; Yoshida, Teruhiko; Ushiama, Mineko; Yoshida, Saki; Nomura, Kenji; Kono, Masashi; Omoto, Shunsuke; Takenaka, Mamoru; Hagiwara, Satoru; Kashida, Hiroshi; Kudo, Masatoshi
免疫/内分泌
发表日期：2024
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A complex rearrangement between APC and TP63 associated with familial adenomatous polyposis identified by multimodal genomic analysis: a case report

多模态基因组分析发现APC和TP63基因之间存在复杂的重排，与家族性腺瘤性息肉病相关：病例报告

期刊:Frontiers in Oncology
影响因子:3.3
doi:10.3389/fonc.2023.1205847
Oda, Satoyo; Ushiama, Mineko; Nakamura, Wataru; Gotoh, Masahiro; Tanabe, Noriko; Watanabe, Tomoko; Odaka, Yoko; Aoyagi, Kazuhiko; Sakamoto, Hiromi; Nakajima, Takeshi; Sugano, Kokichi; Yoshida, Teruhiko; Shiraishi, Yuichi; Hirata, Makoto
APC
免疫/内分泌
发表日期：2023
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A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma

一家族中发现FH基因的新型致病变异，该家族患有遗传性平滑肌瘤病和肾细胞癌

期刊:Human Genome Variation
影响因子:1.3
doi:10.1038/s41439-021-00180-8
Yagi, Yasuto; Abeto, Naoko; Shiraishi, Junichi; Miyata, Chieko; Inoue, Satomi; Murakami, Haruka; Nakashima, Moeko; Sugano, Kokichi; Ushiama, Mineko; Yoshida, Teruhiko; Yamazawa, Kazuki
肿瘤
肾癌
肿瘤免疫
细胞生物学
发表日期：2022
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Reading Food Experiences from the Face: Effects of Familiarity and Branding of Soy Sauce on Facial Expressions and Video-Based RPPG Heart Rate

从面部表情解读食物体验：酱油的熟悉度和品牌效应对面部表情和基于视频的RPPG心率的影响

期刊:Foods
影响因子:5.1
doi:10.3390/foods10061345
de Wijk, Rene A; Ushiama, Shota; Ummels, Meeke; Zimmerman, Patrick; Kaneko, Daisuke; Vingerhoeds, Monique H
发表日期：2021
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Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report

携带与 Muir-Torre 综合征相关的 MLH1 致病性种系变异的黏液纤维肉瘤：病例报告

期刊:Hereditary Cancer in Clinical Practice
影响因子:2.4
doi:10.1186/s13053-021-00192-z
Nakagawa, Makoto; Kobayashi, Eisuke; Yamada, Masayoshi; Watanabe, Tomoko; Hirata, Makoto; Tanabe, Noriko; Ushiama, Mineko; Sakamoto, Hiromi; Sato, Chiaki; Mori, Taisuke; Yoshida, Akihiko; Yoshida, Teruhiko; Sugano, Kokichi; Kawai, Akira
MLH1
发表日期：2021
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Effect of Branding and Familiarity of Soy Sauces on Valence and Arousal as Determined by Facial Expressions, Physiological Measures, Emojis, and Ratings

酱油品牌和熟悉度对情绪效价和唤醒度的影响：基于面部表情、生理指标、表情符号和评分的分析

期刊:Frontiers in Neuroergonomics
影响因子:1.9
doi:10.3389/fnrgo.2021.651682
de Wijk, Rene A; Ushiama, Shota; Ummels, Meeke J; Zimmerman, Patrick H; Kaneko, Daisuke; Vingerhoeds, Monique H
发表日期：2021
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