| 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 | 397 | 2013 |
| Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4 N Bondurand, F Dastot-Le Moal, L Stanchina, N Collot, V Baral, S Marlin, ... The American Journal of Human Genetics 81 (6), 1169-1185, 2007 | 305 | 2007 |
| Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative … J Mollet, I Giurgea, D Schlemmer, G Dallner, D Chretien, A Delahodde, ... The Journal of clinical investigation 117 (3), 765-772, 2007 | 291 | 2007 |
| Further characterization of clinical and laboratory features in VEXAS syndrome: large‐scale analysis of a multicentre case series of 116 French patients S Georgin‐Lavialle, B Terrier, AF Guedon, M Heiblig, T Comont, E Lazaro, ... British Journal of Dermatology 186 (3), 564-574, 2022 | 238 | 2022 |
| Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome P Benit, A Slama, F Cartault, I Giurgea, D Chretien, S Lebon, C Marsac, ... Journal of medical genetics 41 (1), 14-17, 2004 | 225 | 2004 |
| Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy P Bénit, R Beugnot, D Chretien, I Giurgea, P De Lonlay‐Debeney, ... Human mutation 21 (6), 582-586, 2003 | 213 | 2003 |
| Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation F Awad, E Assrawi, C Jumeau, S Georgin-Lavialle, L Cobret, ... PloS one 12 (4), e0175336, 2017 | 184 | 2017 |
| Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion MM González-Barroso, I Giurgea, F Bouillaud, A Anedda, ... PLoS One 3 (12), e3850, 2008 | 154 | 2008 |
| Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency S Lebon, M Chol, P Benit, C Mugnier, D Chretien, I Giurgea, I Kern, ... Journal of medical genetics 40 (12), 896-899, 2003 | 142 | 2003 |
| Inflammasome biology, molecular pathology and therapeutic implications F Awad, E Assrawi, C Louvrier, C Jumeau, S Georgin-Lavialle, G Grateau, ... Pharmacology & therapeutics 187, 133-149, 2018 | 138 | 2018 |
| Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum S Whalen, D Héron, T Gaillon, O Moldovan, M Rossi, F Devillard, ... Human mutation 33 (1), 64-72, 2012 | 129 | 2012 |
| Congenital Hyperinsulinism: Pancreatic [18F]Fluoro-l-Dihydroxyphenylalanine (DOPA) Positron Emission Tomography and Immunohistochemistry Study of DOPA … P de Lonlay, A Simon-Carre, MJ Ribeiro, N Boddaert, I Giurgea, ... The Journal of Clinical Endocrinology & Metabolism 91 (3), 933-940, 2006 | 115 | 2006 |
| BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects E Hilton, J Johnston, S Whalen, N Okamoto, Y Hatsukawa, J Nishio, ... European Journal of Human Genetics 17 (10), 1325-1335, 2009 | 113 | 2009 |
| Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy I Giurgea, T Ulinski, G Touati, C Sempoux, F Mochel, F Brunelle, ... Pediatrics 116 (1), e145-e148, 2005 | 95 | 2005 |
| Photoaging and skin cancer: Is the inflammasome the missing link? F Awad, E Assrawi, C Louvrier, C Jumeau, I Giurgea, S Amselem, ... Mechanisms of Ageing and Development 172, 131-137, 2018 | 88 | 2018 |
| Molecular mechanisms of neonatal hyperinsulinism I Giurgea, C Bellanné-Chantelot, M Ribeiro, L Hubert, C Sempoux, ... Hormone research 66 (6), 289-296, 2006 | 73 | 2006 |
| Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement M Zollino, C Zweier, ID Van Balkom, DA Sweetser, J Alaimo, EK Bijlsma, ... Clinical genetics 95 (4), 462-478, 2019 | 72 | 2019 |
| Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity T Ulinski, L Perrin, M Morris, M Houang, S Cabrol, C Grapin, ... The Journal of Clinical Endocrinology & Metabolism 91 (1), 192-195, 2006 | 70 | 2006 |
| TCF4 Deletions in Pitt‐Hopkins Syndrome I Giurgea, C Missirian, P Cacciagli, S Whalen, T Fredriksen, T Gaillon, ... Human mutation 29 (11), E242-E251, 2008 | 67 | 2008 |
| Congenital hyperinsulinism and mosaic abnormalities of the ploidy I Giurgea, D Sanlaville, JC Fournet, C Sempoux, C Bellanne-Chantelot, ... Journal of medical genetics 43 (3), 248-254, 2006 | 67 | 2006 |
Fawaz AwadKingston University在 kingston.ac.uk 的电子邮件经过验证
