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

A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions

母源外显子H剪接位点变异导致假性甲状旁腺功能减退症1B型，伴有GNAS差异甲基化区域的广泛甲基化缺陷

期刊:Clinical Epigenetics
影响因子:4.4
doi:10.1186/s13148-026-02107-y
Urakawa, Tatsuki; Huang, Haipeng; Nagai, Takuhito; Hattori, Atsushi; Kawasaki, Tomoyuki; Saitsu, Hirotomo; Akutsu, Hidenori; Fukami, Maki; Kagami, Masayo
表观遗传
发表日期：2026
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Treatment and prognosis of proximal humerus fracture in older adults: a retrospective cohort study using health insurance claims database

老年人近端肱骨骨折的治疗和预后：一项基于健康保险索赔数据库的回顾性队列研究

期刊:BMC Geriatrics
影响因子:3.8
doi:10.1186/s12877-026-07269-1
Saitsu, Akihiro; Yamana, Hayato; Sasabuchi, Yusuke; Matsui, Hiroki; Sasanuma, Hideyuki; Matsumura, Tomohiro; Wada, Yoshimitsu; Kanno, Takeshi; Okazaki, Hitoaki; Kohro, Takahide; Takeshita, Katsushi; Yasunaga, Hideo; Kotani, Kazuhiko
骨折
发表日期：2026
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Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome

新型双等位基因 CDK9 变异与视网膜营养不良相关，但不伴有 CHARGE 样畸形综合征

期刊:Journal of Human Genetics
影响因子:2.5
doi:10.1038/s10038-025-01395-1
Nishina, Sachiko; Torii, Kaoruko; Ishitani, Shizuka; Yoshida, Tomoyo; Fukami, Maki; Kurosawa, Kenji; Kosaki, Kenjiro; Saitsu, Hirotomo; Ishitani, Tohru; Hotta, Yoshihiro
CDK9
发表日期：2026
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Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinoma

通过与结直肠腺癌的比较分析，揭示了空回肠腺癌的免疫组织化学和分子进化特征

期刊:Neoplasia
影响因子:7.7
doi:10.1016/j.neo.2025.101180
Ishikawa, Rei; Yamada, Hidetaka; Saitsu, Hirotomo; Miyazaki, Ryosuke; Takahashi, Juri; Takinami, Rino; Baba, Satoshi; Nakashima, Mitsuko; Iwaizumi, Moriya; Osawa, Satoshi; Kawasaki, Hideya; Arai, Yoshifumi; Otsuki, Yoshiro; Ogawa, Hiroshi; Mori, Hiroki; Tanioka, Fumihiko; Suzuki, Shioto; Yasuda, Kazuyo; Suzuki, Makoto; Sugimura, Haruhiko; Shinmura, Kazuya
肿瘤
IHC
肿瘤免疫
免疫/内分泌
发表日期：2025
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Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases

基于本体论的虚拟基因panel扩展可提高罕见遗传病的诊断效率

期刊:BMC Medical Informatics and Decision Making
影响因子:3.8
doi:10.1186/s12911-025-02910-2
Shin, Jaemoon; Fujiwara, Toyofumi; Saitsu, Hirotomo; Yamaguchi, Atsuko
发表日期：2025
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Homozygous FIGLA missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review

日本两姐妹原发性卵巢功能不全的纯合FIGLA错义变异：病例报告及文献综述

期刊:Reproductive Medicine and Biology
影响因子:3.3
doi:10.1002/rmb2.12635
Tanikawa, Wataru; Saitsu, Hirotomo; Nakamura, Yasuhiko; Shirafuta, Yuichiro; Fujisawa, Yasuko; Fukami, Maki; Sugino, Norihiro; Ogata, Tsutomu
发表日期：2025
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Comparison of coronal and sagittal alignment in patients without osteoarthritis but with knee complaints

比较无骨关节炎但有膝关节不适患者的冠状面和矢状面排列情况

期刊:Journal of Experimental Orthopaedics
影响因子:2.7
doi:10.1002/jeo2.70165
Handa, Mikiko; Takahashi, Tsuneari; Saitsu, Akihiro; Iguchi, Masaki; Takeshita, Katsushi
关节炎
发表日期：2025
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Insulin resistant diabetes mellitus in a girl with mild Rabson-Mendenhall syndrome: efficacy of sodium glucose co-transporter 2 inhibitor

一名患有轻度Rabson-Mendenhall综合征的女孩出现胰岛素抵抗型糖尿病：钠-葡萄糖协同转运蛋白2抑制剂的疗效

期刊:Diabetology International
影响因子:1.2
doi:10.1007/s13340-024-00773-y
Masunaga, Yohei; Kinjo, Kenichi; Murai, Yuki; Fujisawa, Yasuko; Saitsu, Hirotomo; Ogata, Tsutomu
代谢
糖尿病
免疫/内分泌
发表日期：2025
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Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review

Silver-Russell综合征中影响HMGA2的致病性序列变异和微缺失：病例报告和文献综述

期刊:Clinical Epigenetics
影响因子:4.4
doi:10.1186/s13148-024-01688-w
Yamoto, Kaori; Saitsu, Hirotomo; Ohkubo, Yumiko; Kagami, Masayo; Ogata, Tsutomu
发表日期：2024
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Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing

利用外显子组测序鉴定罕见儿童神经系统疾病的致病变异

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-024-75020-0
Komatsu, Kazuyuki; Kato, Mitsuhiro; Kubota, Kazuo; Fukumura, Shinobu; Yamada, Keitaro; Hori, Ikumi; Shimizu, Kenji; Miyamoto, Sachiko; Yamoto, Kaori; Hiraide, Takuya; Watanabe, Kazuki; Aoki, Shintaro; Furukawa, Shogo; Hayashi, Taiju; Isogai, Masaharu; Harasaki, Takuma; Nakashima, Mitsuko; Saitsu, Hirotomo
发表日期：2024
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