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G

Giuseppe Novelli

Department of Biomedicine and Prevention

81H-index
1.0KPaper Count
3.8WCitation Count
Published Papers 273
Publication Date
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Medical genetics in Indonesia: development, challenges, and future priorities in a diverse middle-income archipelago
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
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The MEG3-miRNA regulatory axis could potentially modulate response to biological therapies in psoriatic arthritis
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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ExposoGenomics: integrating genome and exposome as jointly dynamic systems for causal discovery and precision health
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
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Cost-effectiveness analysis of lorlatinib as first-line treatment for anaplastic lymphoma kinase (ALK)-positive non-small cell lung cancer in Italy
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
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SUFU Loss-of-Function Heterozygous Variants Cause a Distinct Neurodevelopmental Delay With Simultaneous Effects on Brain Size
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
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Modelling severe COVID-19 in TLR3-mutated hiPSCs-derived lung organoids
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
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An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic
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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Longitudinal Multimodal Assessment of Structure and Function in INPP5E-Related Retinopathy
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
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Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein–protein interactions
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
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Modulation of cellular senescence in psoriatic arthritis: exploring the potential impact of bDMARDs on telomere length, mtDNA copy number, and oxidative damage
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
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errSave
Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability
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
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errSave
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
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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
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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Prenatal diagnosis of chromosome 21q homologous rearrangement: integrated cytogenetic and molecular characterization
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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Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement
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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Transcriptome profiling of human dermal MDPL fibroblasts reveals a characteristic molecular signature providing insights into pathogenic mechanisms
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
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Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies
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
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An Italian cost-utility analysis of 20-valent pneumococcal conjugate vaccine for routine vaccination in infants
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
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A genetic variant in the potassium channel (KCNJ11) gene is associated with diabetic retinopathy in type 2 diabetes patients
errGENE
IF2.4
err2025-04-01
err0
PREAI
errMorgante, Chiara; Latini, Andrea; De Benedittis, Giada; Novelli, Giuseppe; Spallone, Vincenza; Ciccacci, Cinzia; Borgiani, Paola
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Arrhythmogenic Cardiomyopathy PKP2-Related: Clinical and Functional Characterization of a Pathogenic Variant Detected in Two Italian Families
errGENES
IF2.8
err2025-03-31
err0
errOAAI
errMarchionni, Enrica; Lomuscio, Sonia; Latini, Andrea; Murdocca, Michela; Romeo, Fabiana; Crescenzi, Cinzia; Calo, Leonardo; Novelli, Giuseppe; Mango, Ruggiero; Sangiuolo, Federica
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Research Directions

No research directions
Co-authors
Cooperation Journals
陈晓栋 cover
陈晓栋 (Xiaohong Chen)
H-index: 258 · Papers: 1.9W
M
Mark I. McCarthy
H-index: 222 · Papers: 1.5K
G
Gonçalo R. Abecasis
H-index: 204 · Papers: 846
P
Panos Deloukas
H-index: 197 · Papers: 764
C
Christian Gieger
H-index: 175 · Papers: 942
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