G
Giuseppe Novelli
Researcher at University of Rome Tor Vergata
Publications - 651
Citations - 25320
Giuseppe Novelli is an academic researcher from University of Rome Tor Vergata. The author has contributed to research in topics: Gene & Population. The author has an hindex of 66, co-authored 630 publications receiving 21851 citations. Previous affiliations of Giuseppe Novelli include University of Nevada, Reno & University of Urbino.
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Journal ArticleDOI
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,Marcela Moncada-Vélez,Jie Chen,Masato Ogishi,Ira K. D. Sabli,Stephanie Hodeib,Cecilia B. Korol,Jérémie Rosain,Jérémie Rosain,Kaya Bilguvar,Junqiang Ye,Alexandre Bolze,Benedetta Bigio,Rui Yang,Andrés Augusto Arias,Andrés Augusto Arias,Qinhua Zhou,Yu Zhang,Fanny Onodi,Sarantis Korniotis,Léa Karpf,Quentin Philippot,Quentin Philippot,Marwa Chbihi,Marwa Chbihi,Lucie Bonnet-Madin,Karim Dorgham,Nikaïa Smith,William M. Schneider,Brandon S. Razooky,Hans-Heinrich Hoffmann,Eleftherios Michailidis,Leen Moens,Ji Eun Han,Lazaro Lorenzo,Lazaro Lorenzo,Lucy Bizien,Lucy Bizien,Philip Meade,Anna-Lena Neehus,Anna-Lena Neehus,Aileen Camille Ugurbil,Aurélien Corneau,Gaspard Kerner,Gaspard Kerner,Peng Zhang,Franck Rapaport,Yoann Seeleuthner,Yoann Seeleuthner,Jeremy Manry,Jeremy Manry,Cécile Masson,Yohann Schmitt,Agatha Schlüter,Tom Le Voyer,Tom Le Voyer,Taushif Khan,Juan Li,Jacques Fellay,Jacques Fellay,Lucie Roussel,Mohammad Shahrooei,Mohammed F. Alosaimi,Davood Mansouri,Haya Al-Saud,Fahd Al-Mulla,Feras M. Almourfi,Saleh Al-Muhsen,Fahad Alsohime,Saeed Al Turki,Rana Hasanato,Diederik van de Beek,Andrea Biondi,Laura Rachele Bettini,Mariella D'Angiò,Paolo Bonfanti,Luisa Imberti,Alessandra Sottini,Simone Paghera,Eugenia Quiros-Roldan,Camillo Rossi,Andrew J. Oler,Miranda F. Tompkins,Camille Alba,Isabelle Vandernoot,Jean-Christophe Goffard,Guillaume Smits,Isabelle Migeotte,Filomeen Haerynck,Pere Soler-Palacín,Andrea Martín-Nalda,Roger Colobran,Pierre-Emmanuel Morange,Sevgi Keles,Fatma Çölkesen,Tayfun Ozcelik,Kadriye Kart Yaşar,Sevtap Şenoğlu,Şemsi Nur Karabela,Carlos Rodríguez-Gallego,Giuseppe Novelli,Sami Hraiech,Yacine Tandjaoui-Lambiotte,Xavier Duval,Xavier Duval,Cédric Laouénan,Cédric Laouénan,Covid-Storm Clinicians§,Covid Clinicians,CoV-Contact Cohort§,CoV-Contact Cohort§,Amsterdam Umc Covid Biobank,Covid Human Genetic Effort,Niaid-Usuhs,Niaid-Usuhs,Niaid-Usuhs,Andrew L. Snow,Clifton L. Dalgard,Joshua D. Milner,Donald C. Vinh,Donald C. Vinh,Trine H. Mogensen,Trine H. Mogensen,Nico Marr,András N Spaan,András N Spaan,András N Spaan,Bertrand Boisson,Bertrand Boisson,Bertrand Boisson,Stéphanie Boisson-Dupuis,Jacinta Bustamante,Jacinta Bustamante,Jacinta Bustamante,Anne Puel,Michael J. Ciancanelli,Isabelle Meyts,Tom Maniatis,Vassili Soumelis,Ali Amara,Ali Amara,Michel C. Nussenzweig,Adolfo García-Sastre,Florian Krammer,Aurora Pujol,Darragh Duffy,Darragh Duffy,Richard P. Lifton,Richard P. Lifton,Richard P. Lifton,Shen-Ying Zhang,Guy Gorochov,Guy Gorochov,Guy Gorochov,Vivien Béziat,Vivien Béziat,Vivien Béziat,Emmanuelle Jouanguy,Vanessa Sancho-Shimizu,Charles M. Rice,Charles M. Rice,Charles M. Rice,Laurent Abel,Luigi D. Notarangelo,Luigi D. Notarangelo,Luigi D. Notarangelo,Aurélie Cobat,Helen C. Su,Jean-Laurent Casanova +172 more
TL;DR: The COVID Human Genetic Effort established to test the general hypothesis that life-threatening COVID-19 in some or most patients may be caused by monogenic inborn errors of immunity to SARS-CoV-2 with incomplete or complete penetrance finds an enrichment in variants predicted to be loss-of-function (pLOF), with a minor allele frequency <0.001.
Journal ArticleDOI
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan,Judith A. Goodship,D I Wilson,Nicole Philip,A. Levy,H Seidel,S Schuffenhauer,H Oechsler,B Belohradsky,M Prieur,Alain Aurias,F L Raymond,Jill Clayton-Smith,E Hatchwell,C McKeown,Frits A. Beemer,Bruno Dallapiccola,Giuseppe Novelli,Jane A. Hurst,J Ignatius,A J Green,Robin M. Winter,Louise Brueton,Karen Brøndum-Nielsen,Peter J. Scambler +24 more
TL;DR: The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters, and the majority of surviving patients were developmentally normal or had only mild learning problems.
Journal ArticleDOI
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,Jo Knight,Michael E. Weale,Michael H. Allen,Anne Barton,Gavin Band,Céline Bellenguez,Judith G.M. Bergboer,Jenefer M. Blackwell,Elvira Bramon,Suzannah Bumpstead,Juan P. Casas,Michael J. Cork,Aiden Corvin,Panos Deloukas,Alexander T. Dilthey,Audrey Duncanson,Sarah Edkins,Xavier Estivill,Oliver FitzGerald,Colin Freeman,Emiliano Giardina,Emma Gray,Angelika Hofer,Ulrike Hüffmeier,Sarah E. Hunt,Alan D. Irvine,Janusz Jankowski,Brian Kirby,Cordelia Langford,Jesús Lascorz,Joyce Leman,Stephen Leslie,Lotus Mallbris,Hugh S. Markus,Christopher G. Mathew,W.H. Irwin McLean,Ross McManus,Rotraut Mössner,Loukas Moutsianas,Åsa Torinsson Naluai,Frank O. Nestle,Giuseppe Novelli,Alexandros Onoufriadis,Colin N. A. Palmer,Carlo Perricone,Matti Pirinen,Robert Plomin,Simon C. Potter,Ramon M. Pujol,Anna Rautanen,Eva Riveira-Muñoz,Anthony W. Ryan,Wolfgang Salmhofer,Lena Samuelsson,Stephen Sawcer,Joost Schalkwijk,Catherine H. Smith,Mona Ståhle,Zhan Su,Rachid Tazi-Ahnini,Heiko Traupe,Ananth C. Viswanathan,Ananth C. Viswanathan,Richard B. Warren,Wolfgang Weger,Katarina Wolk,Nicholas W. Wood,Jane Worthington,Helen S. Young,Patrick L.J.M. Zeeuwen,Adrian Hayday,A. David Burden,Christopher E.M. Griffiths,Juha Kere,André Reis,Gilean McVean,David M. Evans,Matthew A. Brown,Jonathan Barker,Leena Peltonen,Peter Donnelly,Peter Donnelly,Richard C. Trembath +85 more
TL;DR: These findings implicate pathways that integrate epidermal barrier dysfunction with innate and adaptive immune dysregulation in psoriasis pathogenesis and report compelling evidence for an interaction between the HLA-C and ERAP1 loci.
Journal ArticleDOI
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,Philip E. Stuart,Francesca Capon,Jun Ding,Yanming Li,Trilokraj Tejasvi,Johann E. Gudjonsson,Hyun Min Kang,Michael H. Allen,Ross McManus,Giuseppe Novelli,Lena Samuelsson,Joost Schalkwijk,Mona Ståhle,A. David Burden,Catherine H. Smith,Michael J. Cork,Xavier Estivill,Anne M. Bowcock,Gerald G. Krueger,Wolfgang Weger,Jane Worthington,Rachid Tazi-Ahnini,Frank O. Nestle,Adrian Hayday,Per Hoffmann,Juliane Winkelmann,Cisca Wijmenga,Cordelia Langford,Sarah Edkins,Robert Andrews,Hannah Blackburn,Amy Strange,Gavin Band,Richard D. Pearson,Damjan Vukcevic,Chris C. A. Spencer,Panos Deloukas,Ulrich Mrowietz,Stefan Schreiber,Stephan Weidinger,Sulev Kõks,Külli Kingo,Tõnu Esko,Andres Metspalu,Henry W. Lim,John J. Voorhees,Michael Weichenthal,H.-Erich Wichmann,Vinod Chandran,Cheryl F. Rosen,Proton Rahman,Dafna D. Gladman,Christopher E.M. Griffiths,André Reis,Juha Kere,Juha Kere,Rajan P. Nnair,Andre Franke,Jonathan Nn Barker,Ggoncalo R. Abecasis,James Tt Eelder,Richard Ttrembath,Richard Ttrembath,Kristina Callis Duffin,Cindy Helms,David E. Goldgar,Yun Li,Justin Paschall,Justin Paschall,Mary J. Malloy,Mary J. Malloy,Clive R. Pullinger,Clive R. Pullinger,John P. Kane,John P. Kane,Jennifer M. Gardner,Amy Perlmutter,Andrew Miner,Bing Jian Feng,Ravi Hiremagalore,Robert W. Ike,Enno Christophers,Tilo Henseler,Andreas Ruether,Steven J. Schrodi,Sampath Prahalad,Sampath Prahalad,Stephen L. Guthery,Stephen L. Guthery,Judith Fischer,Wilson Liao,Pui Kwok,Alan Menter,G. Mark Lathrop,Carol Wise,Ann B. Begovich,Alexandros Onoufriadis,Michael E. Weale,Angelika Hofer,Wolfgang Salmhofer,Peter Wolf,Kati Kainu,Ulpu Saarialho-Kere,Sari Suomela,Petra Badorf,Ulrike Hüffmeier,Werner Kurrat,Wolfgang Küster,Jesús Lascorz,Rotraut Mössner,Funda Schürmeier-Horst,Markward Ständer,Heiko Traupe,Judith G.M. Bergboer,Martin den Heijer,Martin den Heijer,Peter C.M. van de Kerkhof,Patrick L.J.M. Zeeuwen,L. Barnes,Linda E. Campbell,Caitriona Cusack,Ciara Coleman,Judith Conroy,Sean Ennis,Oliver FitzGerald,Phil Gallagher,Alan D. Irvine,Brian Kirby,Trevor Markham,W.H. Irwin McLean,Joe McPartlin,Sarah Rogers,Anthony W. Ryan,Agnieszka Zawirska,Emiliano Giardina,Tiziana Lepre,Carlo Perricone,Gemma Martin-Ezquerra,Ramon M. Pujol,Eva Riveira-Muñoz,Annica Inerot,Åsa Torinsson Naluai,Lotus Mallbris,Katarina Wolk,Joyce Leman,Anne Barton,Richard B. Warren,Helen S. Young,Isis Ricaño-Ponce,Gosia Trynka,Fawnda Pellett,Andrew Henschel,Marin Aurand,Bruce F. Bebo,Christian Gieger,Thomas Illig,Susanne Moebus,Karl-Heinz Jöckel,Raimund Erbel,Peter Donnelly,Peter Donnelly,Leena Peltonen,Jenefer M. Blackwell,Elvira Bramon,Elvira Bramon,Matthew A. Brown,Juan P. Casas,Aiden Corvin,Nicholas Craddock,Audrey Duncanson,Janusz Jankowski,Hugh S. Markus,Christopher G. Mathew,Mark I. McCarthy,Colin N. A. Palmer,Robert Plomin,Anna Rautanen,Stephen J. Sawcer,Nilesh J. Samani,Ananth C. Viswanathan,Nicholas W. Wood,Céline Bellenguez,Colin Freeman,Garrett Hellenthal,Eleni Giannoulatou,Matti Pirinen,Zhan Su,Sarah E. Hunt,Rhian Gwilliam,Suzannah Bumpstead,Serge Dronov,Matthew W. Gillman,Emma Gray,Naomi Hammond,Alagurevathi Jayakumar,O. T. McCann,Jennifer Liddle,M. Perez,Simon C. Potter,Radhi Ravindrarajah,Michelle Ricketts,Matthew Waller,Paul A. Weston,Sara Widaa,Pamela Whittaker,Rajan P. Neir,Jonathan Barker,Gonçalo R. Abecasis,James T. Elder,Richard C. Trembath +215 more
TL;DR: A meta-analysis of genome-wide association studies and independent data sets genotyped on the Immunochip identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals, and identified five independent signals within previously known loci.
Journal ArticleDOI
Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C
Giuseppe Novelli,Antoine Muchir,Federica Sangiuolo,Anne Helbling-Leclerc,Maria Rosaria D'Apice,Catherine Massart,Francesca Capon,Paolo Sbraccia,Massimo Federici,Renato Lauro,Cosimo Tudisco,Rosanna Pallotta,Gioacchino Scarano,Bruno Dallapiccola,Luciano Merlini,Gisèle Bonne +15 more
TL;DR: Pat skin fibroblasts showed nuclei that presented abnormal lamin A/C distribution and a dysmorphic envelope, thus demonstrating the pathogenic effect of the R527H LMNA mutation, which was shared by all affected patients.