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

Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran

伊朗新生儿筛查中发现一种新的ACADSB变异体，可用于2-甲基丁酰辅酶A脱氢酶缺乏症的症状前诊断

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-04163-8
Nasri, Maryam; Mahdieh, Nejat; Abbasi, Farzaneh; Mohsenipour, Reihaneh; Abdolahpour, Saeideh
ACADS
发表日期：2026
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A Novel Homozygous CUL7 Variant in an Iranian Patient Expands the Genetic Spectrum of 3 M Syndrome

伊朗患者体内发现的新型纯合CUL7变异体扩展了3M综合征的遗传谱

期刊:Clinical Case Reports
影响因子:0.6
doi:10.1002/ccr3.72218
Arefzadeh, Maryam; Rabbani, Bahareh; Abdolahpour, Saeideh; Emami, Farnoosh; Abbasi, Farzaneh; Masoumi, Tannaz; Mirab Samiee, Siamak; Rabbani, Ali; Mahdieh, Nejat
发表日期：2026
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Comprehensive Iranian guidelines for the diagnosis and management of mitochondrial disorders: an evidence- and consensus-based approach

伊朗线粒体疾病诊断和治疗综合指南：基于循证医学和共识的方法

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-04127-y
Dalili, Setila; Rostampour, Noushin; Mousavi, Seyedeh Tahereh; Joni, Saeid Sadeghi; Mahdieh, Nejat; Rad, Afagh Hassanzadeh; Hakemzadeh, Seyede Tahoura; Nikpour, Sara; Talea, Ali; Moravvej, Hossein
线粒体
发表日期：2025
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Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7-Year Follow-Up With Clinical, Genetic, and ACMG Insights in an Iranian Family

对ATP8A2基因中新型可能致病变异c.1286_1288delAGA的影响进行重新评估：一项针对伊朗家族的7年随访研究，结合临床、遗传学和ACMG（美国医学遗传学和医学研究生院）的见解

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.70081
Kalayinia, Samira; Hesami, Hamed; Badv, Reza Shervin; Rabbani, Maryam; Rezaei, Zahra; Hosseinkhani, Zohreh; Nikbakht, Sedighe; Sharifi, Ameneh; Akbari, Bahman; Mirab Samiee, Siamak; Mahdieh, Nejat
发表日期：2025
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The role of viruses and molecular markers in the diagnosis and treatment of cancers and rare diseases: challenges and perspectives

病毒和分子标记在癌症和罕见病诊断与治疗中的作用：挑战与展望

期刊:Gastroenterology and Hepatology from Bed to Bench
影响因子:
doi:10.22037/ghfbb.v18i3.3198
Rabbani, Amirhassan; Mahdieh, Nejat
微生物学
肿瘤
肿瘤免疫
发表日期：2025
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An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl

CDKN1C基因内含子变异导致一名伊朗女孩患上IMAGe综合征

期刊:Molecular Genetics & Genomic Medicine
影响因子:
doi:10.1002/mgg3.70154
Dalili, Setila; Hoseini Nouri, Seyyedeh Azade; Sharifi, Ameneh; Bayat, Reza; Talebi, Saeid; Savad, Shahram; Medghalchi, Nazanin; Rabbani, Bahareh; Mahdieh, Nejat
MAG
发表日期：2025
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Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene

拓展先天性糖皮质激素缺乏症的表型：一名伊朗患者因MC2R基因致病变异而出现胆汁淤积

期刊:International Journal of Endocrinology
影响因子:2.3
doi:10.1155/2024/3201949
Maleknejad, Shohreh; Dalili, Setila; Sharifi, Ameneh; Hassanzadeh Rad, Afagh; Bayat, Reza; Rabbani, Bahareh; Mahdieh, Nejat
免疫/内分泌
发表日期：2024
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Pancreatitis as a Main Consequence of APOC2-Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants

APOC2相关高甘油三酯血症的主要后果：胰腺炎：无义突变和移码突变的作用

期刊:International Journal of Genomics
影响因子:1.9
doi:10.1155/2024/6653857
Rabbani, Bahareh; Moghadam, Mohadeseh Aghli; Esmaeili, Shiva; Rabbani, Amirhassan; Akbari, Bahman; Mahdieh, Nejat
胰腺炎
发表日期：2024
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Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene

FBP1基因错义致病变异导致家族内表型变异

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2024.101136
Dalili, Setila; Sedighi Pirsaraei, Nasrin; Sharifi, Ameneh; Pouryousef, Alireza; Aghaee, Fatemeh; Bayat, Reza; Ghavami, Babak; Rabbani, Bahareh; Mahdieh, Nejat
发表日期：2024
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A Mutational Hotspot in The LAMP2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive Study

LAMP2基因突变热点：揭示c.877C>T变异的家族内表型变异和全球分布：一项描述性研究

期刊:Cell Journal
影响因子:1.7
doi:10.22074/cellj.2023.2007469.1372
Kavousi, Saeideh; Dalili, Mohammad; Rabbani, Bahareh; Behmanesh, Mehrdad; Noruzinia, Mehrdad; Mahdieh, Nejat
LAMP2
发表日期：2024
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