| Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2) P Revy, T Muto, Y Levy, F Geissmann, A Plebani, O Sanal, N Catalan, ... Cell 102 (5), 565-575, 2000 | 1956 | 2000 |
| Interferon-γ–receptor deficiency in an infant with fatal bacille Calmette–Guérin infection E Jouanguy, F Altare, S Lamhamedi, P Revy, JF Emile, M Newport, ... New England Journal of Medicine 335 (26), 1956-1962, 1996 | 1122 | 1996 |
| Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly D Buck, L Malivert, R de Chasseval, A Barraud, MC Fondanèche, O Sanal, ... Cell 124 (2), 287-299, 2006 | 830 | 2006 |
| XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome S Rigaud, MC Fondanèche, N Lambert, B Pasquier, V Mateo, P Soulas, ... Nature 444 (7115), 110-114, 2006 | 777 | 2006 |
| Human uracil–DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination K Imai, G Slupphaug, WI Lee, P Revy, S Nonoyama, N Catalan, L Yel, ... Nature immunology 4 (10), 1023-1028, 2003 | 750 | 2003 |
| TGF-β1 prevents the noncognate maturation of human dendritic Langerhans cells F Geissmann, P Revy, A Regnault, Y Lepelletier, M Dy, N Brousse, ... The Journal of Immunology 162 (8), 4567-4575, 1999 | 517 | 1999 |
| Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection. F Altare, D Lammas, P Revy, E Jouanguy, R Döffinger, S Lamhamedi, ... The Journal of clinical investigation 102 (12), 2035-2040, 1998 | 517 | 1998 |
| Functional antigen-independent synapses formed between T cells and dendritic cells P Revy, M Sospedra, B Barbour, A Trautmann Nature immunology 2 (10), 925-931, 2001 | 370 | 2001 |
| Retinoids regulate survival and antigen presentation by immature dendritic cells F Geissmann, P Revy, N Brousse, Y Lepelletier, C Folli, A Durandy, ... The Journal of experimental medicine 198 (4), 623-634, 2003 | 237 | 2003 |
| V (D) J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining P Soulas-Sprauel, P Rivera-Munoz, L Malivert, G Le Guyader, ... Oncogene 26 (56), 7780-7791, 2007 | 213 | 2007 |
| Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ... Nature genetics 49 (10), 1529-1538, 2017 | 193 | 2017 |
| Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis PA Juge, R Borie, C Kannengiesser, S Gazal, P Revy, ... European Respiratory Journal 49 (5), 2017 | 190 | 2017 |
| Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability T Le Guen, L Jullien, F Touzot, M Schertzer, L Gaillard, M Perderiset, ... Human molecular genetics 22 (16), 3239-3249, 2013 | 185 | 2013 |
| Hyper-IgM syndrome type 4 with a B lymphocyte–intrinsic selective deficiency in Ig class-switch recombination K Imai, N Catalan, A Plebani, L Maródi, Ö Sanal, S Kumaki, V Nagendran, ... The Journal of clinical investigation 112 (1), 136-142, 2003 | 162 | 2003 |
| Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation D Moshous, E Martin, W Carpentier, A Lim, I Callebaut, D Canioni, ... Journal of allergy and clinical immunology 131 (6), 1594-1603. e9, 2013 | 161 | 2013 |
| Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis C Kannengiesser, R Borie, C Ménard, M Réocreux, P Nitschké, S Gazal, ... European Respiratory Journal 46 (2), 474-485, 2015 | 160 | 2015 |
| Structural characterization of filaments formed by human Xrcc4–Cernunnos/XLF complex involved in nonhomologous DNA end-joining V Ropars, P Drevet, P Legrand, S Baconnais, J Amram, G Faure, ... Proceedings of the National Academy of Sciences 108 (31), 12663-12668, 2011 | 158 | 2011 |
| Cernunnos interacts with the XRCC4· DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1 I Callebaut, L Malivert, A Fischer, JP Mornon, P Revy, JP de Villartay Journal of Biological Chemistry 281 (20), 13857-13860, 2006 | 157 | 2006 |
| Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis R Borie, L Tabèze, G Thabut, H Nunes, V Cottin, S Marchand-Adam, ... European Respiratory Journal 48 (6), 1721-1731, 2016 | 155 | 2016 |
| A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency HH Jabara, T Ohsumi, J Chou, MJ Massaad, H Benson, A Megarbane, ... Journal of allergy and clinical immunology 132 (1), 151-158, 2013 | 154 | 2013 |
Isabelle CallebautCentre National de la Recherche Scientifique, Université Pierre et Marie CurieVerified email at impmc.upmc.fr
