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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Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site

通过长读长测序分析揭示了贝克威思-威德曼综合征患者H19/IGF2:IG-DMR区域的甲基化谱特征，这些患者的OCT4/SOX2结合位点存在缺陷。

期刊:Clinical Epigenetics
影响因子:4.4
doi:10.1186/s13148-026-02065-5
Masubuchi, Hayate; Urakawa, Tatsuki; Kosaki, Rika; Nishimura, Riki; Wada, Yasunori; Dateki, Sumito; Yagasaki, Hideaki; Kagawa, Reiko; Nishimura, Yutaka; Soejima, Hidenobu; Ogata, Tsutomu; Fukami, Maki; Kagami, Masayo
SOX2
SOX
表观遗传
DNA甲基化
发表日期：2026
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Chromosomal and hormonal factors involved in human sexual dimorphism

人类性二态性涉及的染色体和激素因素

期刊:Endocrine Journal
影响因子:2.1
doi:10.1507/endocrj.EJ25-0379
Fukami, Maki; Okamura, Kohji; Sasaki, Shoko; Kagami, Masayo; Dateki, Sumito
免疫/内分泌
发表日期：2026
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A comprehensive long-read sequencing system to assess DNA methylation at differentially methylated regions and imprinting-disorder-related genes

一种用于评估差异甲基化区域和印记紊乱相关基因DNA甲基化的综合性长读长测序系统

期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-025-01559-w
Urakawa, Tatsuki; Hattori, Atsushi; Ogiwara, Yasuko; Masubuchi, Hayate; Igarashi, Mizuho; Nakamura, Sayuri; Hara-Isono, Kaori; Ishiwata, Keisuke; Ogata-Kawata, Hiroko; Kamura, Hiromi; Kuroki, Yoko; Nakabayashi, Kazuhiko; Fukami, Maki; Kagami, Masayo
表观遗传
DNA甲基化
发表日期：2025
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Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients

颞叶综合征：对60名经基因确诊的日本患者进行的全面临床研究

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/clinem/dgae883
Ogawa, Tomoe; Narusawa, Hiromune; Nagasaki, Keisuke; Kosaki, Rika; Naiki, Yasuhiro; Aramaki, Michihiko; Matsubara, Keiko; Nakamura, Akie; Fukami, Maki; Ogata, Tsutomu; Kagami, Masayo
发表日期：2025
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Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith-Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted region

多位点甲基化分析显示，三名具有贝克威思-威德曼综合征表型的患者存在GNAS甲基化缺陷，而11p15.5印记区未发现分子缺陷。

期刊:Clinical Epigenetics
影响因子:4.4
doi:10.1186/s13148-025-01907-y
Urakawa, Tatsuki; Kanamaru, Yuri; Amano, Naoko; Uchida, Akira; Fukami, Maki; Kagami, Masayo
表观遗传
发表日期：2025
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Investigation of methylation profiles in Silver-Russell syndrome to explore episignatures

对Silver-Russell综合征的甲基化谱进行研究，以探索表观遗传特征

期刊:Clinical Epigenetics
影响因子:4.4
doi:10.1186/s13148-025-01993-y
Hara-Isono, Kaori; Inoue, Takanobu; Nakamura, Akie; Fuke, Tomoko; Yamazawa, Kazuki; Matsubara, Keiko; Fukami, Maki; Ogata, Tsutomu; Kawai, Tomoko; Kagami, Masayo
表观遗传
发表日期：2025
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Association between imprinting disorders and assisted reproductive technologies

印记障碍与辅助生殖技术之间的关联

期刊:Epigenomics
影响因子:2.6
doi:10.1080/17501911.2025.2471269
Kagami, Masayo; Hara-Isono, Kaori; Sasaki, Aiko; Amita, Mitsuyoshi
发表日期：2025
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Diagnosis and Genetic Counseling Before and After the Birth of Children With Joubert Syndrome and Beckwith-Wiedemann Syndrome

对患有Joubert综合征和Beckwith-Wiedemann综合征的儿童进行出生前后的诊断和遗传咨询

期刊:Cureus Journal of Medical Science
影响因子:1.3
doi:10.7759/cureus.80677
Hasegawa, Yuri; Miura, Shoko; Kagami, Masayo; Dateki, Sumito; Miura, Kiyonori
发表日期：2025
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A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus

一名患有颞部综合征并伴有2型糖尿病的日本男性患者

期刊:Internal Medicine
影响因子:1.1
doi:10.2169/internalmedicine.2743-23
Iwanishi, Masanori; Yorifuji, Tohru; Yamamoto, Yukako; Ito-Kobayashi, Jun; Shimatsu, Akira; Kikugawa, Shingo; Kagami, Masayo
糖尿病
代谢
发表日期：2025
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