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

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases

儿童期发病罕见病诊断中一级与二级三联体全基因组测序的比较

期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14760
Lucca, Camilla; Rosina, Erica; Pezzani, Lidia; Piazzolla, Daniela; Spaccini, Luigina; Scatigno, Agnese; Gasperini, Serena; Pezzoli, Laura; Cereda, Anna; Milani, Donatella; Cattaneo, Elisa; Cavallari, Ugo; Frigeni, Marco; Marchetti, Daniela; Daolio, Cecilia; Giordano, Laura; Bellini, Matteo; Goisis, Lucrezia; Mongodi, Chiara; Tonduti, Davide; Pilotta, Alba; Cazzaniga, Giovanni; Furlan, Francesca; Bedeschi, Maria Francesca; Mangili, Giovanna; Bonanomi, Ezio; Iascone, Maria
发表日期：2025
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The balance between gasdermin D and STING signaling shapes the severity of schistosome immunopathology

Gasdermin D 和 STING 信号之间的平衡决定了血吸虫免疫病理学的严重程度

期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:
doi:10.1073/pnas.2211047120
Parisa Kalantari, Ilana Shecter, Jacob Hopkins, Andrea Pilotta Gois, Yoelkys Morales, Bijan F Harandi, Shruti Sharma, Miguel J Stadecker
免疫
WB
发表日期：2023
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Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants

全基因组DNA甲基化谱分析解决了NSD1变异体分类的不确定性

期刊:Genes
影响因子:2.8
doi:10.3390/genes13112163
Ferilli, Marco; Ciolfi, Andrea; Pedace, Lucia; Niceta, Marcello; Radio, Francesca Clementina; Pizzi, Simone; Miele, Evelina; Cappelletti, Camilla; Mancini, Cecilia; Galluccio, Tiziana; Andreani, Marco; Iascone, Maria; Chiriatti, Luigi; Novelli, Antonio; Micalizzi, Alessia; Matraxia, Marta; Menale, Lucia; Faletra, Flavio; Prontera, Paolo; Pilotta, Alba; Bedeschi, Maria Francesca; Capolino, Rossella; Baban, Anwar; Seri, Marco; Mammì, Corrado; Zampino, Giuseppe; Digilio, Maria Cristina; Dallapiccola, Bruno; Priolo, Manuela; Tartaglia, Marco
DNA甲基化
表观遗传
DNA甲基化
发表日期：2022
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Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study

Bardet-Biedl综合征患者BBS基因突变谱：一项意大利研究

期刊:Italian Journal of Pediatrics
影响因子:3.1
doi:10.1186/s13052-019-0659-1
Manara, Elena; Paolacci, Stefano; D'Esposito, Fabiana; Abeshi, Andi; Ziccardi, Lucia; Falsini, Benedetto; Colombo, Leonardo; Iarossi, Giancarlo; Pilotta, Alba; Boccone, Loredana; Guerri, Giulia; Monica, Marica; Marta, Balzarini; Maltese, Paolo Enrico; Buzzonetti, Luca; Rossetti, Luca; Bertelli, Matteo
发表日期：2019
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Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency

努南综合征和生长激素缺乏症患儿五年内对生长激素的反应

期刊:Italian Journal of Pediatrics
影响因子:3.1
doi:10.1186/s13052-015-0183-x
Zavras, Niki; Meazza, Cristina; Pilotta, Alba; Gertosio, Chiara; Pagani, Sara; Tinelli, Carmine; Bozzola, Mauro
免疫/内分泌
发表日期：2015
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SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement

对一名22q13.2-22qter重复的先证者进行SNP芯片和FISH分析，揭示了该重排的分子起源。

期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-015-0193-y
Magri, Chiara; Marchina, Eleonora; Bertini, Valeria; Traversa, Michele; Savio, Giulia; Pilotta, Alba; Piovani, Giovanna
发表日期：2015
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Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations

G6PC3 缺乏引起的严重先天性中性粒细胞减少症：两例携带两种新突变的患者出现早期和延迟表型

期刊:Italian Journal of Pediatrics
影响因子:3.1
doi:10.1186/s13052-014-0080-8
Notarangelo, Lucia Dora; Savoldi, Gianfranco; Cavagnini, Sara; Bennato, Veronica; Vasile, Sabrina; Pilotta, Alba; Plebani, Alessandro; Porta, Fulvio
细胞生物学
中性粒细胞
粒细胞
发表日期：2014
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De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay

一名患有轻度智力低下和语言发育迟缓的患者，其8p22区域存在1Mb的新发间质缺失。

期刊:Molecular Cytogenetics
影响因子:1.4
doi:10.1186/1755-8166-7-25
Piovani, Giovanna; Savio, Giulia; Traversa, Michele; Pilotta, Alba; De Petro, Giuseppina; Barlati, Sergio; Magri, Chiara
发育与干细胞
发表日期：2014
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High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis

Rubinstein-Taybi 综合征患者中，CREBBP 突变分析阴性者拷贝数失衡的发生率较高

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2010.1
Gervasini, Cristina; Mottadelli, Federica; Ciccone, Roberto; Castronovo, Paola; Milani, Donatella; Scarano, Gioacchino; Bedeschi, Maria Francesca; Belli, Serena; Pilotta, Alba; Selicorni, Angelo; Zuffardi, Orsetta; Larizza, Lidia
CREB
发表日期：2010
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