D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics and Molecular Biology D-index 65 Citations 16,969 370 World Ranking 1883 National Ranking 26

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Internal medicine
  • Mutation

Giuseppe Novelli mainly focuses on Genetics, Internal medicine, Gene, Endocrinology and Allele. His study in Genetics concentrates on Mutation, Locus, Phenotype, Genetic linkage and Haplotype. Giuseppe Novelli works mostly in the field of Internal medicine, limiting it down to topics relating to SNP and, in certain cases, Odds ratio.

His Gene research is multidisciplinary, incorporating perspectives in Psoriasis, Immunology and Molecular biology. His Endocrinology research incorporates elements of OLR1, Heart disease and Mandibuloacral dysplasia, LMNA. His research integrates issues of Single-nucleotide polymorphism and Cystic fibrosis transmembrane conductance regulator in his study of Allele.

His most cited work include:

  • Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. (957 citations)
  • A Genome-Wide Association Study Identifies New Psoriasis Susceptibility Loci and an Interaction Between HLA-C and ERAP1 (768 citations)
  • Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity (644 citations)

What are the main themes of his work throughout his whole career to date?

Giuseppe Novelli spends much of his time researching Genetics, Gene, Internal medicine, Molecular biology and Allele. His study in Locus, Mutation, Single-nucleotide polymorphism, Haplotype and Exon are all subfields of Genetics. Giuseppe Novelli focuses mostly in the field of Single-nucleotide polymorphism, narrowing it down to matters related to Immunology and, in some cases, Disease.

His Gene study frequently draws connections between related disciplines such as Myotonic dystrophy. The study incorporates disciplines such as Gastroenterology, Endocrinology and Cardiology in addition to Internal medicine. His Molecular biology research includes themes of DNA and Polymerase chain reaction.

He most often published in these fields:

  • Genetics (39.55%)
  • Gene (20.61%)
  • Internal medicine (17.97%)

What were the highlights of his more recent work (between 2015-2021)?

  • Genetics (39.55%)
  • Gene (20.61%)
  • Internal medicine (17.97%)

In recent papers he was focusing on the following fields of study:

Genetics, Gene, Internal medicine, Genotype and Immunology are his primary areas of study. His work on Genetics deals in particular with Phenotype, Exon, Mutation, Mutation and Human genetics. His research in Gene intersects with topics in Molecular biology, Cancer research and Computational biology.

His biological study spans a wide range of topics, including Endocrinology, Oncology, Cardiology, Gastroenterology and Diabetic neuropathy. His work in Genotype addresses issues such as Genetic predisposition, which are connected to fields such as Genetic variability and Genetic association. Giuseppe Novelli has researched Immunology in several fields, including Disease and Allele.

Between 2015 and 2021, his most popular works were:

  • Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 (426 citations)
  • Prospective Observational Study on acute Appendicitis Worldwide (POSAW) (64 citations)
  • A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. (57 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Internal medicine
  • Mutation

His scientific interests lie mostly in Genotype, Genetics, Immunology, Gene and Allele. The various areas that Giuseppe Novelli examines in his Immunology study include Single-nucleotide polymorphism, HCP5, Case-control study and Disease. In Gene, Giuseppe Novelli works on issues like Computational biology, which are connected to CRISPR, Drug development, Cas9 and Drug discovery.

His Allele research integrates issues from SNP, Myotonic dystrophy, Interferon type I and Pneumonia. In his study, Molecular biology is strongly linked to RNA interference, which falls under the umbrella field of OLR1. His study in Internal medicine is interdisciplinary in nature, drawing from both Gastroenterology and Oncology.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

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.
Journal of Medical Genetics (1997)

1167 Citations

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.
Nature Genetics (2010)

841 Citations

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.
Nature Genetics (2012)

749 Citations

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.
Nature Genetics (2009)

559 Citations

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

Giuseppe Novelli;Antoine Muchir;Federica Sangiuolo;Anne Helbling-Leclerc.
American Journal of Human Genetics (2002)

556 Citations

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.
Cardiovascular Research (2006)

522 Citations

MicroRNA 217 Modulates Endothelial Cell Senescence via Silent Information Regulator 1

Rossella Menghini;Viviana Casagrande;Marina Cardellini;Eugenio Martelli.
Circulation (2009)

470 Citations

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.
Science (2020)

458 Citations

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

N. Morral;J. Bertranpetit;X. Estivill;V. Nunes.
Nature Genetics (1994)

409 Citations

Laron Dwarfism and Mutations of the Growth Hormone–Receptor Gene

Serge Amselem;Philippe Duquesnoy;Olivier Attree;Giuseppe Novelli.
The New England Journal of Medicine (1989)

373 Citations

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