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

Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management.

高IgM综合征病例中意义不明的两种变异：对诊断和治疗的影响

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2025.1594636
Agrebi Nourhen, Mackeh Rafah, Alsabbagh Mohamed, Elmi Asha, Al-Marri Amnah A, Hubrack Satanay Z, Purayil Saleema C, Karim Mohammed Yousuf, Hassan Amel, Lo Bernice
IGM
IgM
发表日期：2025
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Establishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping

建立结构化的尿道下裂生物样本库队列以进行综合研究：方法论、综合数据库整合和表型分析

期刊:Diagnostics
影响因子:3.3
doi:10.3390/diagnostics15050561
Abbas, Tariq O; Al-Shafai, Kholoud; Jamil, Asma; Mancha, Maraeh; Azzah, Amina; Arar, Seem; Kumar, Sushine; Al Massih, Alia; Mackeh, Rafah; Tomei, Sara; Saraiva, Luis R
发表日期：2025
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Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform

IL7R基因中一种新的同义变异导致可溶性亚型优先表达。

期刊:Journal of Clinical Immunology
影响因子:5.7
doi:10.1007/s10875-024-01688-8
Mackeh, Rafah; El Bsat, Yasmin; Elmi, Asha; Bibawi, Hani; Karim, Mohammed Yousuf; Hassan, Amel; Lo, Bernice
IL7R
发表日期：2024
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Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life

一名早期患有严重且反复呼吸道感染的患者同时存在TLR3和CTPS2的罕见突变

期刊:Journal of Clinical Immunology
影响因子:5.7
doi:10.1007/s10875-024-01804-8
Bougarn, Salim; Guennoun, Andrea; Khan, Taushif; Mackeh, Rafah; Adeli, Mehdi; Marr, Nico
炎症/感染
发表日期：2024
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Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency

新型 ORAI1 突变破坏通道运输，导致联合免疫缺陷

期刊:Journal of Clinical Immunology
影响因子:7.2
doi:10.1007/s10875-021-01004-8
Fang Yu, Nourhen Agrebi, Rafah Mackeh, Khaled Abouhazima, Khadija KhudaBakhsh, Mehdi Adeli, Bernice Lo, Amel Hassan, Khaled Machaca
免疫
WB
发表日期：2021
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A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes

一种新型STK4突变通过细胞因子诱导的黏附和趋化基因失调损害T细胞免疫

期刊:Journal of Clinical Immunology
影响因子:5.7
doi:10.1007/s10875-021-01115-2
Guennoun, Andrea; Bougarn, Salim; Khan, Taushif; Mackeh, Rafah; Rahman, Mahbuba; Al-Ali, Fatima; Ata, Manar; Aamer, Waleed; Prosser, Debra; Habib, Tanwir; Chin-Smith, Evonne; Al-Darwish, Khawla; Zhang, Qian; Al-Shakaki, Alya; Robay, Amal; Crystal, Ronald G; Fakhro, Khalid; Al-Naimi, Amal; Al Maslamani, Eman; Tuffaha, Amjad; Janahi, Ibrahim; Janahi, Mohammad; Love, Donald R; Karim, Mohammed Yousuf; Lo, Bernice; Hassan, Amel; Adeli, Mehdi; Marr, Nico
STK4
T细胞
T细胞
细胞生物学
免疫/内分泌
发表日期：2021
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C(2)H(2)-Type Zinc Finger Proteins in Brain Development, Neurodevelopmental, and Other Neuropsychiatric Disorders: Systematic Literature-Based Analysis

C₂H₂型锌指蛋白在脑发育、神经发育及其他神经精神疾病中的作用：基于文献的系统分析

期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2020.00032
Al-Naama, Njoud; Mackeh, Rafah; Kino, Tomoshige
发育与干细胞
神经科学
发表日期：2020
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-A curated transcriptomic dataset collection relevant to embryonic development associated with in vitro fertilization in healthy individuals and patients with polycystic ovary syndrome

-一个与健康个体和多囊卵巢综合征患者体外受精相关的胚胎发育相关的精选转录组数据集。

期刊:F1000Research
影响因子:
doi:10.12688/f1000research.10877.1
Mackeh, Rafah; Boughorbel, Sabri; Chaussabel, Damien; Kino, Tomoshige
发育与干细胞
多囊卵巢综合征
免疫/内分泌
发表日期：2017
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Reactive oxygen species, AMP-activated protein kinase, and the transcription cofactor p300 regulate α-tubulin acetyltransferase-1 (αTAT-1/MEC-17)-dependent microtubule hyperacetylation during cell stress

活性氧、AMP 活化蛋白激酶和转录辅因子 p300 调节细胞应激期间 α-微管蛋白乙酰转移酶-1 (αTAT-1/MEC-17) 依赖的微管高乙酰化

期刊:Journal of Biological Chemistry
影响因子:4
doi:10.1074/jbc.M113.507400
Rafah Mackeh, Séverine Lorin, Ameetha Ratier, Najet Mejdoubi-Charef, Anita Baillet, Arnaud Bruneel, Ahmed Hamaï, Patrice Codogno, Christian Poüs, Daniel Perdiz
表观遗传
其它细胞
Human
发表日期：2014
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