Giuseppe Novelli

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

Qian Zhang, Paul Bastard, Zhiyong Liu et al. · Science · 2020 · 2.4K citations · Full text

Human Loci, Disease Susceptibility, Inborn Errors +14

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

A K Ryan, Judith A. Goodship, David I. Wilson et al. · Journal of Medical Genetics · 1997 · 1.2K citations · Full text

Cytogenetics, Genetics, Genetic Epidemiology +23

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

Giuseppe Novelli, Antoine Muchir, Federica Sangiuolo et al. · The American Journal of Human Genetics · 2002 · 532 citations · Full text

Lmna-encoding Lamin A/c, Mendelian Disorder, Genetic Disorder +3

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

Rafael de Cid, Eva Riveira‐Muñoz, Patrick L.J.M. Zeeuwen et al. · Nature Genetics · 2009 · 521 citations · Full text

Susceptibility Factor, Lce3c Genes, Medicine +7

MicroRNA 217 Modulates Endothelial Cell Senescence via Silent Information Regulator 1

Rossella Menghini, Viviana Casagrande, Marina Cardellini et al. · Circulation · 2009 · 478 citations