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

FMR1 Methylation Pattern and Repeat Expansion Screening in a Cohort of Boys with Autism Spectrum Disorders: Correlation of Genetic Findings with Clinical Presentations

自闭症谱系障碍男孩队列中FMR1甲基化模式和重复序列扩增筛查：基因检测结果与临床表现的相关性

期刊:Genes
影响因子:2.8
doi:10.3390/genes16080903
Dobre, Maria; Gaina, Gisela; Erbescu, Alina; Glangher, Adelina; Linca, Florentina Ionela; Ioana, Doina; Severin, Emilia Maria; Rad, Florina; Iliescu, Mihaela Catrinel; Papuc, Sorina Mihaela; Hinescu, Mihail Eugen; Arghir, Aurora; Budișteanu, Magdalena
自闭症
表观遗传
神经科学
DNA甲基化
发表日期：2025
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Rare Copy Number Variants Intersecting Parkinson's-associated Genes in a Cohort of children With Autism Spectrum Disorders

在患有自闭症谱系障碍的儿童队列中，罕见拷贝数变异与帕金森病相关基因存在交叉

期刊:Neuroscience Insights
影响因子:2.6
doi:10.1177/26331055251334595
Erbescu, Alina; Papuc, Sorina Mihaela; Budișteanu, Magdalena; Dobre, Maria; Iliescu, Catrinel; Hinescu, Mihail Eugen; Arghir, Aurora; Neagu, Monica
自闭症
帕金森
神经科学
发表日期：2025
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A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants

癫痫性脑病的一种罕见病因：一例具有PEHO样表型和CCDC88A基因致病变异的新型患者的病例报告

期刊:Italian Journal of Pediatrics
影响因子:3.1
doi:10.1186/s13052-024-01766-y
Papuc, Sorina-Mihaela; Glangher, Adelina; Erbescu, Alina; Arsene, Oana Tarta; Arghir, Aurora; Budisteanu, Magdalena
癫痫
神经科学
发表日期：2024
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Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome

OFD1综合征中的自闭症行为作为一种新的临床发现

期刊:Genes
影响因子:2.8
doi:10.3390/genes14020327
Papuc, Sorina Mihaela; Erbescu, Alina; Glangher, Adelina; Streata, Ioana; Riza, Anca-Lelia; Budisteanu, Magdalena; Arghir, Aurora
自闭症
神经科学
发表日期：2023
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Re-emerging concepts of immune dysregulation in autism spectrum disorders

自闭症谱系障碍中免疫失调概念的重新出现

期刊:Frontiers in Psychiatry
影响因子:3.2
doi:10.3389/fpsyt.2022.1006612
Erbescu, Alina; Papuc, Sorina Mihaela; Budisteanu, Magdalena; Arghir, Aurora; Neagu, Monica
自闭症
神经科学
免疫/内分泌
发表日期：2022
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Genomic imbalances of chromosome 15 in patients with autistic features and global developmental delay

具有自闭症特征和全面发育迟缓患者的15号染色体基因组不平衡

期刊:Molecular Imaging
影响因子:2.4
doi:10.1177/1536012118821034
Tang, Shiyu; Powell, Elizabeth M; Zhu, Wenjun; Lo, Fu-Sun; Erzurumlu, Reha S; Xu, Su; Goeta, D; Demartini, B; Dillon, Emily F; Budisteanu, M; Papuc, S; Erbescu, A; Albulescu, L; Arghir, A
发育与干细胞
自闭症
神经科学
发表日期：2022
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Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania

脑异位症的临床和基因组学发现：来自罗马尼亚的儿科患者队列报告

期刊:
影响因子:
doi:10.3892/etm.2021.11024
Budisteanu, Magdalena; Papuc, Sorina Mihaela; Erbescu, Alina; Iliescu, Catrinel; Dobre, Maria; Barca, Diana; Tarta-Arsene, Oana; Motoescu, Cristina; Dica, Alice; Sandu, Carmen; Anghelescu, Cristina; Craiu, Dana; Arghir, Aurora
神经科学
发表日期：2022
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Delineation of Molecular Lesions in Acute Myeloid Leukemia Patients at Diagnosis: Integrated Next Generation Sequencing and Cytogenomic Studies

急性髓系白血病患者诊断时分子病变的界定：整合的下一代测序和细胞遗传学研究

期刊:Genes
影响因子:2.8
doi:10.3390/genes12060846
Papuc, Sorina Mihaela; Erbescu, Alina; Cisleanu, Diana; Ozunu, Diana; Enache, Cristina; Dumitru, Ion; Lupoaia Andrus, Elena; Gaman, Mihaela; Popov, Viola Maria; Dobre, Maria; Stanca, Oana; Angelescu, Silvana; Berbec, Nicoleta; Colita, Andrei; Vladareanu, Ana-Maria; Bumbea, Horia; Arghir, Aurora
细胞生物学
白血病
发表日期：2021
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The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients

15q13.3区域重复的表型谱：5例患者报告

期刊:Genes
影响因子:2.8
doi:10.3390/genes12071025
Budisteanu, Magdalena; Papuc, Sorina Mihaela; Streata, Ioana; Cucu, Mihai; Pirvu, Andrei; Serban-Sosoi, Simona; Erbescu, Alina; Andrei, Emanuela; Iliescu, Catrinel; Ioana, Doina; Severin, Emilia; Ioana, Mihai; Arghir, Aurora
发表日期：2021
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Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review

8p21.2p11.21缺失患者出现自闭症和严重临床表型：病例报告及文献综述

期刊:Clinical Case Reports
影响因子:0.6
doi:10.1002/ccr3.3523
Arghir, Aurora; Papuc, Sorina Mihaela; Tutulan-Cunita, Andreea-Cristina; Erbescu, Alina; Loddo, Sara; Genovese, Silvia; Ciocca, Laura; Goldoni, Marina; Piscopo, Carmelo; Bernardini, Laura; Novelli, Antonio; Budisteanu, Magdalena
自闭症
神经科学
发表日期：2021
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