Giuseppe Novelli

About Giuseppe Novelli

Giuseppe Novelli, With an exceptional h-index of 87 and a recent h-index of 48 (since 2020), a distinguished researcher at Università degli Studi di Roma Tor Vergata, specializes in the field of genetica medica, genetica umana.

His recent articles reflect a diverse array of research interests and contributions to the field:

Case report: A new de novo 6q21q22. 1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review

Two Years of COVID: The Journey to Discover a New Disease

Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Large-scale DNA sequencing identifies rare variants associated with Systemic Lupus Erythematosus susceptibility in known risk genes

Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations

The rs11568820 Variant in the Promoter Region of Vitamin D Receptor Gene Is Associated with Clinical Remission in Rheumatoid Arthritis Patients Receiving Tumor Necrosis Factor …

Low expression levels of miRNA-155 and miRNA-499a are associated with obesity in Type 2 diabetes

Giuseppe Novelli Information

University

Position

Professore di Genetica Medica

Citations(all)

36793

Citations(since 2020)

13074

Cited By

27357

hIndex(all)

87

hIndex(since 2020)

48

i10Index(all)

525

i10Index(since 2020)

269

Email

University Profile Page

Università degli Studi di Roma Tor Vergata

Google Scholar

View Google Scholar Profile

Giuseppe Novelli Skills & Research Interests

genetica medica

genetica umana

Top articles of Giuseppe Novelli

Title

Journal

Author(s)

Publication Date

Case report: A new de novo 6q21q22. 1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review

Frontiers in Genetics

Chiara Minotti

Ludovico Graziani

Ester Sallicandro

Maria Cristina Digilio

Roberto Falasca

...

2024/2/6

Two Years of COVID: The Journey to Discover a New Disease

Giuseppe Novelli

2024/1/11

Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome

MOLECULAR SYNDROMOLOGY

Ludovico Graziani

Miriam Lucia Carriero

Flavio Pozzi

Chiara Minotti

Aikaterini Andreadi

...

2024/3/22

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Genome Medicine

Daniela Matuozzo

Estelle Talouarn

Astrid Marchal

Peng Zhang

Jeremy Manry

...

2024/1/6

Large-scale DNA sequencing identifies rare variants associated with Systemic Lupus Erythematosus susceptibility in known risk genes

Gene

Andrea Latini

Paola Borgiani

Giada De Benedittis

Cinzia Ciccacci

Lucia Novelli

...

2024/2/13

Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations

The Journal of Maternal-Fetal & Neonatal Medicine

Ludovico Graziani

Sara Nuovo

Elisa Pisaneschi

Miriam Lucia Carriero

Leila Baghernajad Salehi

...

2024/1/2

The rs11568820 Variant in the Promoter Region of Vitamin D Receptor Gene Is Associated with Clinical Remission in Rheumatoid Arthritis Patients Receiving Tumor Necrosis Factor …

Genes

Andrea Latini

Giada De Benedittis

Paola Conigliaro

Chiara Bonini

Chiara Morgante

...

2024/2/12

Low expression levels of miRNA-155 and miRNA-499a are associated with obesity in Type 2 diabetes

Epigenomics

Andrea Latini

Giada De Benedittis

Cinzia Ciccacci

Giuseppe Novelli

Vincenza Spallone

...

2024/1

Are Surgeons Going to Be Left Holding the Bag? Incisional Hernia Repair and Intra-Peritoneal Non-Absorbable Mesh Implant Complications

Andrew W Kirkpatrick

Federico Coccolini

Matti Tolonen

Samual Minor

Fausto Catena

...

2024/2/9

Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report

Genes

Ludovico Graziani

Stefania Zampatti

Miriam Lucia Carriero

Chiara Minotti

Cristina Peconi

...

2023/8/6

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs

Science immunology

Paul Bastard

Sara E Vazquez

Jamin Liu

Matthew T Laurie

Chung Yu Wang

...

2023/12/22

Organoid factory: The recent role of the human induced pluripotent stem cells (hiPSCs) in precision medicine

Giuseppe Novelli

Paola Spitalieri

Michela Murdocca

Eleonora Centanini

Federica Sangiuolo

2023/1/9

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

Stuart G Tangye

Laurent Abel

Salah Al-Muhsen

Alessandro Aiuti

Saleh Al-Muhsen

...

2023/4/1

Expression profile of HERVs and inflammatory mediators detected in nasal mucosa as a predictive biomarker of COVID-19 severity

Frontiers in Microbiology

Vita Petrone

Marialaura Fanelli

Martina Giudice

Nicola Toschi

Allegra Conti

...

2023/5/22

COVID-19 annual update: A narrative review

Michela Biancolella

Vito Luigi Colona

Lucio Luzzatto

Jessica Lee Watt

Giorgio Mattiuz

...

2023/7/24

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by …

Frontiers in Neurology

Rosangela Ferese

Simona Scala

Antonio Suppa

Rosa Campopiano

Francesco Asci

...

2023/12/7

Downregulation of circulating hsa-miR-200c-3p correlates with dyslipidemia in patients with stable coronary artery disease

International Journal of Molecular Sciences

Chiara Vancheri

Elena Morini

Francesca Romana Prandi

Francesco Barillà

Francesco Romeo

...

2023/1/6

From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging

Michela Murdocca

Paola Spitalieri

Maria Rosaria D’Apice

Giuseppe Novelli

Federica Sangiuolo

2023/4/1

The impact of genomic variants on patient response to inhaled bronchodilators: a comprehensive update

Maria Gabriella Matera

Paola Rogliani

Giuseppe Novelli

Mario Cazzola

2023/5/4

COVID-19: S-Peptide RBD 484–508 Induces IFN-γ T-Cell Response in Naïve-to-Infection and Unvaccinated Subjects with Close Contact with SARS-CoV-2 …

Viruses

Michela Murdocca

Gennaro Citro

Eleonora Centanini

Rosalinda Giannini

Andrea Latini

...

2023/6/22

See List of Professors in Giuseppe Novelli University(Università degli Studi di Roma Tor Vergata)

Co-Authors

H-index: 120
Jawahar  L Mehta

Jawahar L Mehta

University of Arkansas for Medical Sciences

H-index: 119
Gerry Melino

Gerry Melino

Università degli Studi di Roma Tor Vergata

H-index: 71
Bruno Marino

Bruno Marino

Sapienza Università di Roma

H-index: 66
Massimo Gennarelli

Massimo Gennarelli

Università degli Studi di Brescia

H-index: 59
Carlo Perricone

Carlo Perricone

Università degli Studi di Perugia

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