World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
86
Citations
32821
World Ranking
1246
National Ranking
17

Medicine

D-Index
87
Citations
34259
World Ranking
13496
National Ranking
515

Overview

Giuseppe Novelli is affiliated with the University of Rome Tor Vergata in Italy. Their research spans multiple fields within medicine, biochemistry, genetics, and molecular biology, with a particular focus on molecular biology, infectious diseases, genetics, immunology, and cardiology and cardiovascular medicine.

Their scholarly output includes significant work related to COVID-19 and its clinical impacts, genetics, and immunology. Novelli's main topics of work include:

  • SARS-CoV-2 and COVID-19 Research
  • COVID-19 Clinical Research Studies
  • Genetic Neurodegenerative Diseases
  • Genetics and Neurodevelopmental Disorders
  • Mitochondrial Function and Pathology
  • Genomics and Rare Diseases
  • Immunodeficiency and Autoimmune Disorders

Novelli has contributed to numerous scientific articles, including highly cited recent papers such as:

  • Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 (2020, Science)
  • X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 (2021, Science Immunology)
  • Human genetic and immunological determinants of critical COVID-19 pneumonia (2022, Nature)
  • HLA allele frequencies and susceptibility to COVID-19 in a group of 99 Italian patients (2020, HLA)
  • SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease? (2021, The Journal of Experimental Medicine)

The scientist frequently collaborates with several coauthors who have jointly contributed to multiple publications, including:

  • Antonio Novelli
  • Federica Sangiuolo
  • Andrea Latini
  • Paola Borgiani
  • Maria Rosaria D'Apice

Novelli's research is commonly published in high-impact venues. Frequent publication venues include:

  • Genes
  • Human Genomics
  • International Journal of Molecular Sciences
  • bioRxiv (Cold Spring Harbor Laboratory)
  • The Journal of Experimental Medicine

Overall, the scientist's work is situated at the interface of genetics and infectious diseases, with an emphasis on understanding molecular and immunological mechanisms underpinning severe COVID-19 cases and other related conditions.

Best Publications

  • Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

    Qian Zhang;Paul Bastard;Paul Bastard;Zhiyong Liu;Jérémie Le Pen

  • Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

    A K Ryan;J A Goodship;D I Wilson;N Philip

  • Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

    Lam C. Tsoi;Sarah L. Spain;Sarah L. Spain;Jo Knight;Eva Ellinghaus;Eva Ellinghaus

  • A Genome-Wide Association Study Identifies New Psoriasis Susceptibility Loci and an Interaction Between HLA-C and ERAP1

    Amy Strange;Francesca Capon;Chris C A Spencer

  • Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

    Rafael De Cid;Eva Riveira-Munoz;Patrick L.J.M. Zeeuwen;Jason Robarge

  • Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

    Giuseppe Novelli;Antoine Muchir;Federica Sangiuolo;Anne Helbling-Leclerc

  • Lectin-like, oxidized low-density lipoprotein receptor-1 (LOX-1) : A critical player in the development of atherosclerosis and related disorders

    Jawahar L. Mehta;Jiawei Chen;Paul L. Hermonat;Francesco Romeo;Francesco Romeo

  • MicroRNA 217 Modulates Endothelial Cell Senescence via Silent Information Regulator 1

    Rossella Menghini;Viviana Casagrande;Marina Cardellini;Eugenio Martelli

  • The origin of the major cystic fibrosis mutation (ΔF508) in European populations

    N. Morral;J. Bertranpetit;X. Estivill;V. Nunes

  • Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.

    Ulrike Hüffmeier;Steffen Uebe;Arif B Ekici;John Bowes

  • Laron Dwarfism and Mutations of the Growth Hormone–Receptor Gene

    Serge Amselem;Philippe Duquesnoy;Olivier Attree;Giuseppe Novelli

  • X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.

    Takaki Asano;Bertrand Boisson;Bertrand Boisson;Bertrand Boisson;Fanny Onodi;Daniela Matuozzo;Daniela Matuozzo

  • Prenatal Diagnosis of Myotonic Dystrophy Using Fetal DNA Obtained from Maternal Plasma

    Paola Amicucci;Massimo Gennarelli;Giuseppe Novelli;Bruno Dallapiccola

  • Mutations in the Hepatocyte Nuclear Factor-1β Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease

    Coralie Bingham;Michael P. Bulman;Sian Ellard;Lisa I.S. Allen

  • Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

    Joshua D. Groman;Timothy W. Hefferon;Teresa Casals;Lluís Bassas

  • Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping.

    C Ben Hamida;N Doerflinger;S Belal;C Linder

  • Searching for Psoriasis Susceptibility Genes in Italy: Genome Scan and Evidence for a New Locus on Chromosome 1

    Francesca Capon;Giuseppe Novelli;Sabrina Semprini;Maurizio Clementi

  • Altered pre-lamin A processing is a common mechanism leading to lipodystrophy

    Cristina Capanni;Elisabetta Mattioli;Marta Columbaro;Enrico Lucarelli

  • Prospective Observational Study on acute Appendicitis Worldwide (POSAW).

    Massimo Sartelli;Gian L. Baiocchi;Salomone Di Saverio;Francesco Ferrara

  • Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

    L. C. Tsoi;S. L. Spain;J. Knight;E. Ellinghaus

Frequent Co-Authors

Bruno Dallapiccola
Bruno Dallapiccola Bambino Gesù Children's Hospital
Francesca Capon
Francesca Capon King's College London
Carlo Perricone
Carlo Perricone University of Perugia
Antonio Pizzuti
Antonio Pizzuti Sapienza University of Rome
Fabrizio Conti
Fabrizio Conti Sapienza University of Rome
Antonio Novelli
Antonio Novelli Boston Children's Hospital
Mauro Magnani
Mauro Magnani University of Urbino
Corrado Angelini
Corrado Angelini University of Padua
Francesco Brancati
Francesco Brancati University of L'Aquila

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Pursuing a degree in Genetics opens doors to various online learning options and career pathways. Many students decide to broaden their skill set by enrolling in medical coding programs, which provide useful healthcare and data management expertise complementary to genetics.

For those wanting to accelerate their career in genetics or related fields, consider enrolling in a fast track bachelor degree. These programs are designed to help you graduate sooner and enter the workforce more quickly.

Flexibility is another key advantage of online education. Accredited self-paced online colleges and courses allow students to learn at their own speed, making it easier to balance studies with work or family commitments. Explore accredited self paced online colleges for personalized learning experiences.

Additionally, applying to universities with no financial barriers is now easier than ever. Many reputable universities with no application fee offer genetics and related programs, allowing you to save costs right from the application process.

Best Scientists Citing Giuseppe Novelli

Trending Scientists

Recently Published Articles