Giuseppe Novelli

University of Rome Tor Vergata — Italy

Neuroscience · Life Sciences

81h-index37.8kcitations1.0kworks2.82yr avg
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Research Topics

Genetic Neurodegenerative Diseases(97), Mitochondrial Function and Pathology(56), RNA modifications and cancer(56), Congenital heart defects research(51), SARS-CoV-2 and COVID-19 Research(50)

Publications1.0k total

An Out‐of‐Place Etiology: Recognizing <scp>FMR1</scp> Premutation in the Memory Clinic
Annals of Clinical and Translational Neurology·2025Open Access
An ETS2 Enhancer Variant May Modulate Gene Expression and Contribute to Defining a Genetic Risk Profile for SLE Susceptibility
Genes·2025Open Access
Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2
Nature Communications·2025· 1 citedOpen Access
Longitudinal Multimodal Assessment of Structure and Function in INPP5E-Related Retinopathy
Genes·2025Open Access
Modulation of cellular senescence in psoriatic arthritis: exploring the potential impact of bDMARDs on telomere length, mtDNA copy number, and oxidative damage
Clinical and Experimental Medicine·2025Open Access
Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein–protein interactions
Human Genomics·2025Open Access
Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability
Orphanet Journal of Rare Diseases·2025Open Access
WHEN STANDARD TESTS FALL SHORT: SOLVING A COMPLEX CASE OF INHERITED BONE MARROW FAILURE SYNDROME THROUGH WHOLE-EXOME SEQUENCING
EJC Paediatric Oncology·2025Open Access
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
Genes·2025Open Access
Epidemiological and clinical data from the European Lipodystrophy Registry
European Journal of Endocrinology·2025· 1 citedOpen Access
Prenatal diagnosis of chromosome 21q homologous rearrangement: integrated cytogenetic and molecular characterization
Egyptian Journal of Medical Human Genetics·2025Open Access
Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement
Molecular Cytogenetics·2025Open Access
Transcriptome profiling of human dermal MDPL fibroblasts reveals a characteristic molecular signature providing insights into pathogenic mechanisms
Journal of Molecular Medicine·2025Open Access
The seven enigmas of SARS-CoV-2: From the past to the future
Journal of Human Immunity·2025· 1 citedOpen Access
Otofaciocervical Syndrome and Its Overlap with Branchio‐Otorenal Spectrum: An Integrated Literature Analysis of EYA1‐Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion
Preprints.org·2025Open Access
[Complementary Strategy of RSVpreF Vaccination/Nirsevimab versus Nirsevimab Alone for the Prevention of RSV Infection in Infants in Italy: A Cost-Minimization Analysis]
Farmeconomia Health economics and therapeutic pathways·2025Open Access
Brugada Syndrome in Myotonic Dystrophy Type 2: First Report of an ANK2 Variant
Preprints.org·2025Open Access
The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies
Journal of Cardiovascular Development and Disease·2025· 2 citedOpen Access
Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies
Clinical Genetics·2025Open Access
High-Accuracy Detection of Bottlenose Dolphin Whistle Using AI
2025
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Frequent Co-authors

Bruno Dallapiccola(12), Antonio Novelli(9), Francesca Capon(6), Xavier Estivill(6), Giorgio Casari(6), Petter Brodin(6), Qian Zhang(5), Paul Bastard(5), Alexandre Bolze(5), Andrés A. Arias(5), Jacques Fellay(5), Davood Mansouri(5), Filomeen Haerynck(5), Tayfun Özçelık(5), Carlos Rodríguez‐Gallego(5), Maria Rosaria D’Apice(5), Alessandro Aiuti(5), Aurora Pujol(5), Carlos Flores(5), Rebeca Pérez de Diego(5)