Autoantibodies against type I IFNs in patients with life-threatening COVID-19 P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ... Science 370 (6515), eabd4585, 2020 | 2555 | 2020 |
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 | 2209 | 2020 |
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 | 476 | 2021 |
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 | 356 | 2021 |
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-κB activation F Fusco, T Bardaro, G Fimiani, V Mercadante, MG Miano, G Falco, A Israël, ... Human molecular genetics 13 (16), 1763-1773, 2004 | 198 | 2004 |
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies J Manry, P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, ... Proceedings of the National Academy of Sciences 119 (21), 2022 | 142 | 2022 |
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations F Fusco, A Pescatore, E Bal, A Ghoul, M Paciolla, MB Lioi, M D'Urso, ... Human mutation 29 (5), 595-604, 2008 | 135 | 2008 |
NF-κB-related genetic diseases G Courtois, A Smahi Cell Death & Differentiation 13 (5), 843-851, 2006 | 114 | 2006 |
Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease MI Conte, A Pescatore, M Paciolla, E Esposito, MG Miano, MB Lioi, ... Human mutation 35 (2), 165-177, 2014 | 103 | 2014 |
Clinical diagnosis of incontinentia pigmenti in a cohort of male patients F Fusco, G Fimiani, G Tadini, MV Ursini Journal of the American Academy of Dermatology 56 (2), 264-267, 2007 | 96 | 2007 |
Incontinentia pigmenti: report on data from 2000 to 2013 F Fusco, M Paciolla, MI Conte, A Pescatore, E Esposito, P Mirabelli, ... Orphanet Journal of Rare Diseases 9, 1-5, 2014 | 95 | 2014 |
EDA-ID and IP, Two Faces of the Same Coin: How the Same IKBKG/NEMO Mutation Affecting the NF-κB Pathway Can Cause Immunodeficiency and/or Inflammation F Fusco, A Pescatore, MI Conte, P Mirabelli, M Paciolla, E Esposito, ... International reviews of immunology 34 (6), 445-459, 2015 | 92 | 2015 |
HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur … P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ... Science 370 (6515), eabd4585, 2020 | 91 | 2020 |
Ancestral Founder Mutation of the Nude (FOXN1) Gene in Congenital Severe Combined Immunodeficiency Associated with Alopecia in Southern Italy Population M Adriani, A Martinez‐Mir, F Fusco, R Busiello, J Frank, S Telese, ... Annals of human genetics 68 (3), 265-268, 2004 | 90 | 2004 |
Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti H Sebban-Benin, A Pescatore, F Fusco, V Pascuale, J Gautheron, ... Human molecular genetics 16 (23), 2805-2815, 2007 | 75 | 2007 |
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms F Fusco, M Paciolla, F Napolitano, A Pescatore, I D'Addario, E Bal, ... Human molecular genetics 21 (6), 1260-1271, 2012 | 65 | 2012 |
HGID Lab P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ... NIAID-USUHS Immune Response to COVID Group, 2020 | 63 | 2020 |
Nuclear factor-kappa-B-inhibitor alpha (NFKBIA) is a developmental marker of NF-κB/p65 activation during in vitro oocyte maturation and early embryogenesis M Paciolla, R Boni, F Fusco, A Pescatore, L Poeta, MV Ursini, MB Lioi, ... Human reproduction 26 (5), 1191-1201, 2011 | 60 | 2011 |
Incontinencia pigmenti F Cammarata-Scalisi, F Fusco, MV Ursini Actas dermo-sifiliograficas 110 (4), 273-278, 2019 | 44 | 2019 |
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX L Poeta, F Fusco, D Drongitis, C Shoubridge, G Manganelli, S Filosa, ... The American Journal of Human Genetics 92 (1), 114-125, 2013 | 44 | 2013 |