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

Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy

针对巨头畸形和自闭症谱系障碍/行为异常的临床遗传学方法：PTEN 和 PPP2R5D 变异是患者导向诊断策略中最常见的基因突变

期刊:Genes
影响因子:2.8
doi:10.3390/genes16040469
L'Erario, Federica Francesca; Gazzellone, Annalisa; Contaldo, Ilaria; Veredice, Chiara; Carapelle, Marina; Renzi, Anna Gloria; Modafferi, Clarissa; Palucci, Marta; D'Ambrosio, Pino; Sonnini, Elena; Loberti, Lorenzo; Panfili, Arianna; Lucci Cordisco, Emanuela; Chiurazzi, Pietro; Trevisan, Valentina; Leoni, Chiara; Zampino, Giuseppe; Pomponi, Maria Grazia; Orteschi, Daniela; Zollino, Marcella; Marangi, Giuseppe
自闭症
PTEN
PPP2R5D
神经科学
发表日期：2025
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Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature

从产前到产后发现的22三体嵌合体：病例系列及文献系统综述

期刊:Genes
影响因子:2.8
doi:10.3390/genes15030346
Trevisan, Valentina; Meroni, Anna; Leoni, Chiara; Sirchia, Fabio; Politano, Davide; Fiandrino, Giacomo; Giorgio, Valentina; Rigante, Donato; Limongelli, Domenico; Perri, Lucrezia; Sforza, Elisabetta; Leonardi, Francesca; Viscogliosi, Germana; Contaldo, Ilaria; Orteschi, Daniela; Proietti, Luca; Zampino, Giuseppe; Onesimo, Roberta
发表日期：2024
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Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability

一名患有晚发性脑白质营养不良和轻度智力障碍的患者的三重基因诊断

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms25010495
Pasquetti, Domizia; Gazzellone, Annalisa; Rossi, Salvatore; Orteschi, Daniela; L'Erario, Federica Francesca; Concolino, Paola; Minucci, Angelo; Dionisi-Vici, Carlo; Genuardi, Maurizio; Silvestri, Gabriella; Chiurazzi, Pietro
神经科学
发表日期：2023
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CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

CHAMP1相关疾病：不同基因组改变引发的发病机制定义了不同的疾病分类

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-023-01305-z
Amenta, Simona; Marangi, Giuseppe; Orteschi, Daniela; Frangella, Silvia; Gurrieri, Fiorella; Paccagnella, Elisa; Scala, Marcello; Romano, Ferruccio; Capra, Valeria; Nigro, Vincenzo; Zollino, Marcella
发表日期：2023
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Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8

通过临床遗传学方法，并经mRNA分析验证，在与MFSD8基因中一种新型非经典剪接位点变异相关的神经元蜡样脂褐质沉积症7中，建立了线性诊断程序。

期刊:Genes
影响因子:2.8
doi:10.3390/genes14020245
Pasquetti, Domizia; Marangi, Giuseppe; Orteschi, Daniela; Carapelle, Marina; L'Erario, Federica Francesca; Venditti, Romina; Maietta, Sabrina; Battaglia, Domenica Immacolata; Contaldo, Ilaria; Veredice, Chiara; Zollino, Marcella
神经科学
发表日期：2023
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Investigating the "Fetal Side" in Recurrent Pregnancy Loss: Reliability of Cell-Free DNA Testing in Detecting Chromosomal Abnormalities of Miscarriage Tissue

探究复发性流产中的“胎儿侧”：无细胞DNA检测在检测流产组织染色体异常方面的可靠性

期刊:Journal of Clinical Medicine
影响因子:
doi:10.3390/jcm12123898
D'Ippolito, Silvia; Longo, Giuliana; Orteschi, Daniela; Busnelli, Andrea; Di Simone, Nicoletta; Pulcinelli, Eleonora; Schettini, Giorgia; Scambia, Giovanni; Zollino, Marcella
细胞生物学
流产
发表日期：2023
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Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

脆性 X 综合征与第二种遗传疾病同时发生：三例独立的双重诊断病例

期刊:Genes
影响因子:
doi:10.3390/genes12121909
Elisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, Roberta Pietrobono, Daniela Orteschi, Veronica Nobile, Cecilia Pucci, Elisa Musto, Marika Pane, Eugenio M Mercuri, Giovanni Neri, Maurizio Genuardi, Pietro Chiurazzi, Marcella Zollino
信号转导
Human
发表日期：2021
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Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers

CARMIL2相关联合免疫缺陷的复杂黏膜皮肤表现：上皮屏障功能障碍的一种新型表现

期刊:Acta Dermato-Venereologica
影响因子:3.7
doi:10.2340/00015555-3370
Marangi, Giuseppe; Garcovich, Simone; Sante, Gabriele Di; Orteschi, Daniela; Frangella, Silvia; Scaldaferri, Franco; Genuardi, Maurizio; Peris, Ketty; Gurrieri, Fiorella; Zollino, Marcella
IL2
免疫/内分泌
发表日期：2020
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Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples

综合征性颅缝早闭可能揭示颅缝发育的新候选基因，也可能是多效性基因非特异性效应的结果：例如 Raso 病和染色质病。

期刊:Frontiers in Neuroscience
影响因子:3.2
doi:10.3389/fnins.2017.00587
Zollino, Marcella; Lattante, Serena; Orteschi, Daniela; Frangella, Silvia; Doronzio, Paolo N; Contaldo, Ilaria; Mercuri, Eugenio; Marangi, Giuseppe
发育与干细胞
发表日期：2017
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Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

MED13L基因中新发现的从头杂合功能缺失变异以及对MED13L单倍体功能不全综合征的进一步阐述

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2015.19
Cafiero, Concetta; Marangi, Giuseppe; Orteschi, Daniela; Ali, Marwan; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, Ilaria; Leuzzi, Vincenzo; Battaglia, Domenica; Mercuri, Eugenio; Slavotinek, Anne M; Zollino, Marcella
MED1
发表日期：2015
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