| Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. A Smahi, G Courtois, P Vabres, S Yamaoka, S Heuertz, A Munnich, ... Nature 405 (6785), 466-473, 2000 | 869 | 2000 |
| Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009 V Oji, G Tadini, M Akiyama, CB Bardon, C Bodemer, E Bourrat, ... Journal of the American Academy of Dermatology 63 (4), 607-641, 2010 | 862 | 2010 |
| A randomized, controlled trial of oral propranolol in infantile hemangioma C Léauté-Labrèze, P Hoeger, J Mazereeuw-Hautier, L Guibaud, ... New England Journal of Medicine 372 (8), 735-746, 2015 | 821 | 2015 |
| A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma C Bertolotto, F Lesueur, S Giuliano, T Strub, M De Lichy, K Bille, P Dessen, ... Nature 480 (7375), 94-98, 2011 | 595 | 2011 |
| First-line rituximab combined with short-term prednisone versus prednisone alone for the treatment of pemphigus (Ritux 3): a prospective, multicentre, parallel-group, open … P Joly, M Maho-Vaillant, C Prost-Squarcioni, V Hebert, E Houivet, S Calbo, ... The Lancet 389 (10083), 2031-2040, 2017 | 501 | 2017 |
| Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease S Hadj-Rabia, L Baala, P Vabres, D Hamel-Teillac, E Jacquemin, M Fabre, ... Gastroenterology 127 (5), 1386-1390, 2004 | 441 | 2004 |
| 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 | 430 | 2021 |
| Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy CL Navarro, A De Sandre-Giovannoli, R Bernard, I Boccaccio, A Boyer, ... Human molecular genetics 13 (20), 2493-2503, 2004 | 422 | 2004 |
| High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome V Bubien, F Bonnet, V Brouste, S Hoppe, E Barouk-Simonet, A David, ... Journal of medical genetics 50 (4), 255-263, 2013 | 393 | 2013 |
| 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 | 325 | 2021 |
| Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling M Amyere, N Revencu, R Helaers, E Pairet, E Baselga, M Cordisco, ... Circulation 136 (11), 1037-1048, 2017 | 238 | 2017 |
| Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis AC Thomas, Z Zeng, JB Rivière, R O’shaughnessy, L Al-Olabi, JS Onge, ... Journal of Investigative Dermatology 136 (4), 770-778, 2016 | 194 | 2016 |
| Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosis J Mazereeuw-Hautier, PH Hoeger, S Benlahrech, A Ammour, P Broue, ... The Journal of pediatrics 157 (2), 340-342, 2010 | 187 | 2010 |
| Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis S Nambot, J Thevenon, P Kuentz, Y Duffourd, E Tisserant, AL Bruel, ... Genetics in Medicine 20 (6), 645-654, 2018 | 162 | 2018 |
| Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum VER Parker, KM Keppler-Noreuil, L Faivre, M Luu, NL Oden, L De Silva, ... Genetics in Medicine 21 (5), 1189-1198, 2019 | 153 | 2019 |
| Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity F Caux, H Plauchu, F Chibon, L Faivre, O Fain, P Vabres, F Bonnet, ... European journal of human genetics 15 (7), 767-773, 2007 | 153 | 2007 |
| Diagnostic and predictive value of skin testing in platinum salt hypersensitivity V Leguy-Seguin, G Jolimoy, B Coudert, C Pernot, S Dalac, P Vabres, ... Journal of allergy and clinical immunology 119 (3), 726-730, 2007 | 142 | 2007 |
| Propranolol for treatment of ulcerated infantile hemangiomas M Saint-Jean, C Léauté-Labrèze, J Mazereeuw-Hautier, N Bodak, ... Journal of the American Academy of Dermatology 64 (5), 827-832, 2011 | 137 | 2011 |
| Prospective multicenter study of pegylated liposomal doxorubicin treatment in patients with advanced or refractory mycosis fungoides or Sézary syndrome G Quereux, S Marques, JM Nguyen, C Bedane, M D’incan, O Dereure, ... Archives of dermatology 144 (6), 727-733, 2008 | 133 | 2008 |
| Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma B Gardie, A Remenieras, D Kattygnarath, J Bombled, S Lefèvre, ... Journal of medical genetics 48 (4), 226-234, 2011 | 129 | 2011 |
Faivre Laurenceprofesseur de génétique, Université de BourgogneVerified email at chu-dijon.fr
