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Giuseppe Novelli

University of Rome Tor Vergata

81H指数
1.0K论文数
3.8W被引数
收录论文 274
发表时间
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Medical genetics in Indonesia: development, challenges, and future priorities in a diverse middle-income archipelago印度尼西亚的医学遗传学：一个多元化中等收入群岛的发展、挑战与未来优先事项
errHuman Genomics
IF4.3
err2026-08-26
err0
errOAAI
errDario Ciabini; Edhijanto Widaja; Ben Widaja; Lino di RienzoBusinco; Valter Spano; Michela Biancolella; Vishal Harnal; Rosalba Benedetto; Juergen K. V. Reichardt; Giuseppe Novelli
err分享
err收藏
Toward the clinical application of long-read sequencing in repeat-expansion disorders长读测序在重复序列扩增疾病中的临床应用展望
errNature Genetics
IF29
err2026-08-20
err0
PREAI
errLouise Benarroch; Jovan Pešović; Marzia Rossato; Zhongbo Chen; Morghan C. Lucas; Guillaume Cogan; Indhu-Shree Rajan-Babu; Vitus Prokosch; Christina Zarouchlioti; Marco Carlomagno; Ida Höijer; Mayra Sauer; Ismail Jamail; Shota Shibata; Glen Lester Sequiera; Benjamin P. Kleinstiver; Sonia Lameiras; Ricardo Mouro Pinto; Giuseppe Novelli; Davina Hensman Moss; Natalia Dominik; Mathieu Barbier; Isabelle Le Ber; Guillaume Bassez; Denis Furling; Massimo Delledonne; Karen Usdin; Sylvain Baulande; Geneviève Gourdon; Birgitt Schüle; Dušanka Savić-Pavićević; Annalisa Botta; Alice E. Davidson; Adam Ameur; Vincent Dion; Stéphanie Tomé
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err收藏
The MEG3-miRNA regulatory axis could potentially modulate response to biological therapies in psoriatic arthritisMEG3-miRNA调控轴可能调节银屑病关节炎对生物疗法的反应
errPharmacological Reports
IF3.8
err2026-08-11
err0
PREAI
errGiada De Benedittis; Chiara Morgante; Andrea Latini; Arianna D’Antonio; Eneida Cela; Benedetta Monosi; Paola Conigliaro; Cinzia Ciccacci; Giuseppe Novelli; Maria Sole Chimenti; Paola Borgiani
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err收藏
ExposoGenomics: integrating genome and exposome as jointly dynamic systems for causal discovery and precision healthExposoGenomics：将基因组与暴露组整合为联合动态系统，用于因果发现和精准健康
errHuman Genomics
IF4.3
err2026-07-21
err0
errOAAI
errVasilis Vasiliou; Nicholas Katsanis; Giuseppe Novelli; Juergen K. V. Reichardt; Bassam R. Ali; Maria Gazouli; Sek Won Kong; Hongyu Zhao; Kiril Veselkov; Bhramar Mukherjee; Dimosthenis Sarigiannis
err分享
err收藏
Cost-effectiveness analysis of lorlatinib as first-line treatment for anaplastic lymphoma kinase (ALK)-positive non-small cell lung cancer in Italy洛拉替尼作为间变性淋巴瘤激酶（ALK）阳性非小细胞肺癌一线治疗的成本效益分析（意大利）
errJournal of Medical Economics
IF3
err2026-05-23
err0
errOAAI
errValentini, Ilaria; Rumi, Filippo; Di Brino, Eugenio; Bearz, Alessandra; Pasello, Giulia; Novelli, Giuseppe; Di Virgilio, Roberto; Basile, Michele
err分享
err收藏
SUFU Loss-of-Function Heterozygous Variants Cause a Distinct Neurodevelopmental Delay With Simultaneous Effects on Brain SizeSUFU功能缺失性杂合变异导致独特的神经发育迟缓并同时对脑尺寸产生同时效应
errHuman Mutation
IF3.7
err2026-01-01
err0
errOAAI
errGraziani, Ludovico; Minotti, Chiara; Carriero, Miriam Lucia; Travaglini, Lorena; Nizon, Mathilde; Van Esch, Hilde; Vogt, Julie; Drinkall, Nick; Jarvis, Joanna; Agolini, Emanuele; Bengala, Mario; Mussa, Alessandro; Novelli, Antonio; Novelli, Giuseppe
err分享
err收藏
Modelling severe COVID-19 in TLR3-mutated hiPSCs-derived lung organoids在TLR3突变的hiPSCs来源的肺类器官中模拟重症COVID-19
errCell Death Discovery
IF7
err2025-12-26
err0
errOAAI
errAndrea Latini; Paola Spitalieri; Federica Centofanti; Barbara Rizzacasa; Donatella Amatore; Giorgia Grilli; Riccardo De Santis; Lorenzo Vaccaro; Vito Luigi Colona; Giulio Puleri; Anna Maria Nardone; Michela Biancolella; Elena Campione; Loredana Sarmati; Paola Rogliani; Davide Cacchiarelli; Antonio Novelli; Federica Sangiuolo; Florigio Lista; Giuseppe Novelli
err分享
err收藏
An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic一个不合时宜的病因学：在记忆诊所中识别FMR1前突变
errAnnals of Clinical and Translational Neurology
IF3.9
err2025-12-15
err0
errOAAI
errGuido Greco; Caterina Motta; Enrica Marchionni; Maria Rosaria D'Apice; Carlangelo Carrese; Giuseppe Novelli; Alessandro Martorana; Chiara Giuseppina Bonomi
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err收藏
Longitudinal Multimodal Assessment of Structure and Function in INPP5E-Related Retinopathy纵向多模态对INPP5E相关视网膜病变的结构和功能评估
errGenes 2025, Vol. 16, Page 1407
IF2.8
err2025-11-27
err0
errOAAI
errAndrea Cusumano; Marco Lombardo; Benedetto Falsini; Michele D’Ambrosio; Jacopo Sebastiani; Enrica Marchionni; Maria Rosaria D’Apice; Barbara Rizzacasa; Francesco Martelli; Giuseppe Novelli
err分享
err收藏
Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein–protein interactionsPOLD1 Ser605del变异在MDPL综合征中的结构与功能影响：蛋白质-蛋白质相互作用方面的见解
errHuman Genomics
IF4.3
err2025-11-18
err0
errOAAI
errMichela Murdocca; Isabella Romeo; Serena Maccaroni; Antonio Curcio; Gerardo Pepe; Manuela Helmer-Citterich; Stefano Alcaro; Giuseppe Novelli; Federica Sangiuolo
err分享
err收藏
Modulation of cellular senescence in psoriatic arthritis: exploring the potential impact of bDMARDs on telomere length, mtDNA copy number, and oxidative damage银屑病关节炎中细胞衰老的调控：探究bDMARDs对端粒长度、mtDNA拷贝数和氧化损伤的潜在影响
errClinical and Experimental Medicine
IF3.5
err2025-11-18
err0
errOAAI
errGiada De Benedittis; Eneida Cela; Chiara Morgante; Andrea Latini; Arianna D’Antonio; Mauro Fatica; Giulia Mori; Paola Conigliaro; Cinzia Ciccacci; Giuseppe Novelli; Maria Sole Chimenti; Paola Borgiani
err分享
err收藏
Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability散发型C1-INH遗传性血管性水肿病例中意外发现的基因组结构：隐藏的遗传性
errOrphanet Journal of Rare Diseases
IF3.5
err2025-11-06
err0
errOAAI
errEnrica Marchionni; Liliana Mannucci; Silvia Di Tommaso; Anna Maria Nardone; Maria Albanese; Antonio Novelli; Federica Carla Sangiuolo; Paola Triggianese; Giuseppe Novelli
err分享
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WHEN STANDARD TESTS FALL SHORT: SOLVING A COMPLEX CASE OF INHERITED BONE MARROW FAILURE SYNDROME THROUGH WHOLE-EXOME SEQUENCING
errEJC Paediatric Oncology
IF0
err2025-11-01
err0
errOAAI
errLelli, Nicole; Gurnari, Carmelo; Marchionni, Enrica; Silvestrin, Giorgia; Ranucci, Giorgia; Ricci, Eugenia; Ferradin, Valentina; Minotti, Chiara; Gastaldi, Susanna; Page, Camilla; Diraimondo, Cosimo; Novelli, Giuseppe; Sangiuolo, Federica; Attardi, Enrico; Voso, Maria Teresa
err分享
err收藏
Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion面耳颈综合征及其与鳃耳肾谱系的重叠：EYA1相关疾病的一篇综合文献分析，包括一个携带8q13.2q13.3缺失的新型病例
errGenes 2025, Vol. 16, Page 1267
IF2.8
err2025-10-29
err0
errOAAI
errLudovico Graziani; Miriam Lucia Carriero; Salvatore Melchionda; Bartolomeo Augello; Orazio Palumbo; Mario Bengala; Marco Castori; Giuseppe Novelli
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err收藏
Prenatal diagnosis of chromosome 21q homologous rearrangement: integrated cytogenetic and molecular characterization21q同源重排的产前诊断：综合细胞遗传学和分子表征
errEgyptian Journal of Medical Human Genetics
IF1.1
err2025-10-17
err0
errOAAI
errCarriero, Miriam Lucia; Graziani, Ludovico; Di Tommaso, Silvia; Di Rosa, Cristiana; Mannucci, Liliana; Brugiati, Valentina; Novelli, Antonio; Baghernajad Salehi, Leila; Nardone, Anna Maria; Novelli, Giuseppe
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err收藏
Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement细胞基因组学和光学基因组图谱方法表征了一种由于母源复杂同源染色体重组导致的衍生性间质性18p单体。
errMOLECULAR CYTOGENETICS
IF1.4
err2025-10-14
err0
errOAAI
errGraziani, Ludovico; Genovese, Silvia; Genovesi, Maria Luce; Di Rosa, Cristiana; Di Noi, Rosalba; Loddo, Sara; Bengala, Mario; Colona, Vito Luigi; Novelli, Antonio; Novelli, Giuseppe; Alesi, Viola; Nardone, Anna Maria
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err收藏
Transcriptome profiling of human dermal MDPL fibroblasts reveals a characteristic molecular signature providing insights into pathogenic mechanisms人类真皮MDPL成纤维细胞的转录组分析揭示了一种特征性分子标志物，为致病机制提供了见解。
errJournal of Molecular Medicine
IF4.2
err2025-10-13
err0
errOAAI
errMichela Murdocca; Gerardo Pepe; Serena Maccaroni; Paola Spitalieri; Manuela Helmer-Citterich; Giuseppe Novelli; Federica Sangiuolo
err分享
err收藏
Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies进一步探讨TRRAP基因型-表型相关性：聚焦骨骼异常的三例新患者报告
errClinical Genetics
IF2.3
err2025-06-29
err0
errOAAI
errChiara Minotti; Sara Terreri; Andrea Del Fattore; Francesca Romana Lepri; Rosario Ruta; Maria Iascone; Laura Pezzoli; Maria Lisa Dentici; Antonio Novelli; Michelina Armando; Daniela Longo; Giuseppe Novelli; Domenico Barbuti; Andrea Bartuli; Ugo Cavallari; Ludovico Graziani; Maria Cristina Digilio; Lorenzo Sinibaldi
err分享
err收藏
An Italian cost-utility analysis of 20-valent pneumococcal conjugate vaccine for routine vaccination in infants一项关于20价肺炎球菌结合疫苗在婴儿常规接种中的意大利成本-效用分析
errJOURNAL OF MEDICAL ECONOMICS
IF3
err2025-05-15
err0
errOAAI
errMichele Basile; Filippo Rumi; Agostino Fortunato; Debora Antonini; Roberto Di Virgilio; Giuseppe Novelli; Alessandra Pagliaro; Eugenio Di Brino
err分享
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A genetic variant in the potassium channel (KCNJ11) gene is associated with diabetic retinopathy in type 2 diabetes patients钾通道(KCNJ11)基因中的一个遗传变异与2型糖尿病患者的糖尿病视网膜病变相关。
errGENE
IF2.4
err2025-04-01
err0
PREAI
errMorgante, Chiara; Latini, Andrea; De Benedittis, Giada; Novelli, Giuseppe; Spallone, Vincenza; Ciccacci, Cinzia; Borgiani, Paola
err分享
err收藏

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陈晓栋 (Xiaohong Chen)
H 指数: 258 · 论文数: 1.9W
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Mark I. McCarthy
H 指数: 222 · 论文数: 1.5K
G
Gonçalo R. Abecasis
H 指数: 204 · 论文数: 846
P
Panos Deloukas
H 指数: 197 · 论文数: 764
C
Christian Gieger
H 指数: 175 · 论文数: 942
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