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

DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia

DOCK2 缺陷和 GATA2 单倍体不足可能是 2019 冠状病毒病 (COVID-19) 重症肺炎的潜在病因

期刊:Journal of Clinical Immunology
影响因子:5.7
doi:10.1007/s10875-025-01877-z
Biglari, Sajjad; Youssefian, Leila; Tabatabaiefar, Mohammad Amin; Saeidian, Amir Hossein; Abtahi-Naeini, Bahareh; Khorram, Erfan; Sherkat, Roya; Moghaddam, Atefeh Sohanforooshan; Mohaghegh, Fatemeh; Rahimi, Maziyar; Rahimi, Hamid; Babaei, Sharareh; Shahrooei, Mohammad; Mozafari, Nikoo; Zaresharifi, Shirin; Vahidnezhad, Fatemeh; Homayouni, Vida; Tsoi, Lam C; Gudjonsson, Johann E; Hakonarson, Hakon; Casanova, Jean-Laurent; Jouanguy, Emmanuelle; Béziat, Vivien; Zhang, Qian; Cobat, Aurélie; Vahidnezhad, Hassan
肺炎
DOCK2
GATA
微生物学
发表日期：2025
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Investigating TSHR gene variants in consanguineous families: novel insights into variable expression in familial congenital hypothyroidism

对近亲家庭中 TSHR 基因变异的研究：对家族性先天性甲状腺功能减退症中可变表达的新见解

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2025.1559281
Nadeali, Zakiye; Mohammadi-Zaniani, Zohreh; Biglari, Sajjad; Molavi, Newsha; Zardoui, Khashayar; Mirfendereski, Sam; Hashemipour, Mahin; Tabatabaiefar, Mohammad Amin; Polychronakos, Constantin
甲状腺功能减退
TSHR
免疫/内分泌
发表日期：2025
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Correction: whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature

更正：全外显子组测序揭示了四个伊朗家族中与X连锁智力障碍相关的四个基因的变异：新的有害变异和临床特征及文献综述

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-025-02100-z
Mir, Atefeh; Song, Yongjun; Lee, Hane; Khanahmad, Hossein; Khorram, Erfan; Nasiri, Jafar; Tabatabaiefar, Mohammad Amin
发表日期：2025
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Correction: Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia

更正：PDZD7 和 PDE6C 基因中两个共分离变异的临床特征和分子遗传学研究，这两个变异同时导致非综合征性听力损失和全色盲。

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-025-02197-2
Nouri, Zahra; Sarmadi, Akram; Narrei, Sina; Kianersi, Hamidreza; Kianersi, Farzan; Tabatabaiefar, Mohammad Amin
发表日期：2025
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Mono-allelic MUTYH mutation as the likely inherited etiology of hereditary breast cancer in a patient from a multi-cancer family- report of a family and literature review

单等位基因MUTYH突变可能是多癌家族患者遗传性乳腺癌的致病因素——家族病例报告及文献综述

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-025-02213-5
Sarmadi, Akram; Javanmard, Shaghayegh Haghjooy; Zeinalian, Mehrdad; Hosseinzadeh, Majid; Tabatabaiefar, Mohammad Amin
MUTYH
肿瘤
肿瘤免疫
乳腺癌
发表日期：2025
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New Insight into Pathogenic Variant p.L275P on the Structure and Function of Steroidogenic Acute Regulatory Protein (STAR) Through Molecular Dynamics Simulation

通过分子动力学模拟，对类固醇生成急性调节蛋白（STAR）结构和功能中致病变异体p.L275P有了新的认识

期刊:Advanced Biomedical Research
影响因子:1
doi:10.4103/abr.abr_439_23
Aghaei, Shahrzad; Tabatabaiefar, Mohammad Amin; Saffari-Chaleshtori, Javad; Korram, Erfan; Amini, Sara Sadeghi; Aghaei, Maryam; Koohiyan, Mahbobeh; Ataie, Zahra; Samei, Payam; Farrokhi, Effat
STAR
发表日期：2025
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Prevalence of Novel and Recurrent Pathogenic Variants in BRCA Genes in a Cohort of Iranian Hereditary Breast Cancer Patients

伊朗遗传性乳腺癌患者队列中BRCA基因新型和复发性致病变异的患病率

期刊:Advanced Biomedical Research
影响因子:1
doi:10.4103/abr.abr_681_24
Sarmadi, Akram; Haghjooy Javanmard, Shaghayegh; Zeinalian, Mehrdad; Hosseinzadeh, Majid; Tabatabaiefar, Mohammad Amin
肿瘤
肿瘤免疫
乳腺癌
发表日期：2025
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Main Genes Linked to the Immune Microenvironment in High-Grade Serous Ovarian Cancer

与高级别浆液性卵巢癌免疫微环境相关的关键基因

期刊:Advanced Biomedical Research
影响因子:1
doi:10.4103/abr.abr_26_25
Fatehi, Razieh; Tabatabaiefar, MohammadAmin; Behnamfar, Fariba; Khanahmad, Hossein
肿瘤
免疫/内分泌
肿瘤免疫
卵巢癌
发表日期：2025
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CRYAB Missense Mutation Reveals Shared Pathogenesis of Familial Cardiomyopathy and Arrhythmia

CRYAB错义突变揭示家族性心肌病和心律失常的共同发病机制

期刊:Genes
影响因子:
doi:10.3390/genes16101162
Nariman, Ali; Nikoo, Mohammad Hossein; Sarrafzadegan, Nizal; Zibanejad, Mohammad Javad; Jervekani, Zahra Teimouri; Daliri, Karim; Tabatabaiefar, Mohammad Amin
心血管
心肌病
发表日期：2025
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A Truncating Variant in the ERCC6 Gene With Three Different Phenotypes: Significant Effects of Modifier Genes

ERCC6基因截断变异体表现出三种不同的表型：修饰基因的显著影响

期刊:Genetics Research
影响因子:
doi:10.1155/genr/7396691
Khorrami, Mehdi; Khorram, Erfan; Tabatabaiefar, Mohammad Amin; Yaghini, Omid; Iravani, Omid; Kheirollahi, Aida; Kheirollahi, Majid; Yazdani, Vida; Pakbaz, Mitra
发表日期：2025
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