| Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez, J Chen, M Ogishi, ... Science 370 (6515), eabd4570, 2020 | 2293 | 2020 |
| Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. AK Ryan, JA Goodship, DI Wilson, N Philip, A Levy, H Seidel, ... Journal of medical genetics 34 (10), 798-804, 1997 | 1328 | 1997 |
| Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity LC Tsoi, SL Spain, J Knight, E Ellinghaus, PE Stuart, F Capon, J Ding, ... Nature genetics 44 (12), 1341-1348, 2012 | 1108 | 2012 |
| Genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1 A Strange, F Capon, CCA Spencer, J Knight, ME Weale, MH Allen, ... Nature genetics 42 (11), 985, 2010 | 1047 | 2010 |
| Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C G Novelli, A Muchir, F Sangiuolo, A Helbling-Leclerc, MR D’Apice, ... The American Journal of Human Genetics 71 (2), 426-431, 2002 | 645 | 2002 |
| Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis R De Cid, E Riveira-Munoz, PLJM Zeeuwen, J Robarge, W Liao, ... Nature genetics 41 (2), 211-215, 2009 | 634 | 2009 |
| Lectin-like, oxidized low-density lipoprotein receptor-1 (LOX-1): a critical player in the development of atherosclerosis and related disorders JL Mehta, J Chen, PL Hermonat, F Romeo, G Novelli Cardiovascular research 69 (1), 36-45, 2006 | 582 | 2006 |
| MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1 R Menghini, V Casagrande, M Cardellini, E Martelli, A Terrinoni, F Amati, ... Circulation 120 (15), 1524-1532, 2009 | 576 | 2009 |
| Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ... Science immunology 6 (62), eabl4340, 2021 | 512 | 2021 |
| The origin of the major cystic fibrosis mutation (ΔF508) in European populations N Morral, J Bertranpetit, X Estivill, V Nunes, T Casals, J Gimenez, A Reis, ... Nature genetics 7 (2), 169-175, 1994 | 471 | 1994 |
| Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis U Hüffmeier, S Uebe, AB Ekici, J Bowes, E Giardina, E Korendowych, ... Nature genetics 42 (11), 996-999, 2010 | 436 | 2010 |
| Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma P Amicucci, M Gennarelli, G Novelli, B Dallapiccola Clinical chemistry 46 (2), 301-302, 2000 | 403 | 2000 |
| Laron dwarfism and mutations of the growth hormone–receptor gene S Amselem, P Duquesnoy, O Attree, G Novelli, S Bousnina, ... New England Journal of Medicine 321 (15), 989-995, 1989 | 395 | 1989 |
| X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19 T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ... Science immunology 6 (62), eabl4348, 2021 | 371 | 2021 |
| Mutations in the hepatocyte nuclear factor-1β gene are associated with familial hypoplastic glomerulocystic kidney disease C Bingham, MP Bulman, S Ellard, LIS Allen, GW Lipkin, WG van't Hoff, ... The American Journal of Human Genetics 68 (1), 219-224, 2001 | 327 | 2001 |
| Prospective observational study on acute appendicitis worldwide (POSAW) M Sartelli, GL Baiocchi, S Di Saverio, F Ferrara, FM Labricciosa, ... World Journal of Emergency Surgery 13, 1-10, 2018 | 325 | 2018 |
| Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign JD Groman, TW Hefferon, T Casals, L Bassas, X Estivill, M Des Georges, ... The American Journal of Human Genetics 74 (1), 176-179, 2004 | 297 | 2004 |
| Incidence of type 1 and type 2 diabetes in adults aged 30–49 years: the population-based registry in the province of Turin, Italy G Bruno, C Runzo, P Cavallo-Perin, F Merletti, M Rivetti, S Pinach, ... Diabetes care 28 (11), 2613-2619, 2005 | 285 | 2005 |
| 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, L Reutenauer, C Dib, ... Nature genetics 5 (2), 195-200, 1993 | 282 | 1993 |
| Transfer and expression of foreign genes in mammalian cells A Colosimo, KK Goncz, AR Holmes, K Kunzelmann, G Novelli, ... Biotechniques 29 (2), 314-331, 2000 | 269 | 2000 |
Francesca AmatiRicercatore confermato Genetica Medica, Università Tor Vergata RomaDirección de correo verificada de med.uniroma2.it
