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| Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy L Van Maldergem, J Magre, TE Khallouf, T Gedde-Dahl, M Delepine, ... Journal of medical genetics 39 (10), 722-733, 2002 | 320 | 2002 |
| Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test J Thevenon, Y Duffourd, A Masurel‐Paulet, M Lefebvre, F Feillet, ... Clinical Genetics 89 (6), 700-707, 2016 | 260 | 2016 |
| Epidemiological and clinical features of hMPV, RSV and RVs infections in young children C Manoha, S Espinosa, SL Aho, F Huet, P Pothier Journal of Clinical Virology 38 (3), 221-226, 2007 | 214 | 2007 |
| Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development S Benko, CT Gordon, D Mallet, R Sreenivasan, C Thauvin-Robinet, ... Journal of medical genetics 48 (12), 825-830, 2011 | 209 | 2011 |
| Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations L Faivre, A Masurel-Paulet, G Collod-Beroud, BL Callewaert, AH Child, ... Pediatrics 123 (1), 391-398, 2009 | 208 | 2009 |
| PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy C Thauvin-Robinet, M Auclair, L Duplomb, M Caron-Debarle, M Avila, ... The American Journal of Human Genetics 93 (1), 141-149, 2013 | 198 | 2013 |
| Costs of community-acquired pediatric rotavirus gastroenteritis in 7 European countries: the REVEAL Study C Giaquinto, P Van Damme, F Huet, L Gothefors, M Van der Wielen, ... The Journal of infectious diseases 195 (Supplement_1), S36-S44, 2007 | 180 | 2007 |
| Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study C Thauvin-Robinet, M Cossee, V Cormier-Daire, L Van Maldergem, ... Journal of Medical Genetics 43 (1), 54-61, 2006 | 177 | 2006 |
| Chronic intestinal pseudoobstruction syndrome clinical analysis, outcome, and prognosis in 105 children C Faure, O Goulet, S Ategbo, A Breton, P Tounian, JL Ginies, ... Digestive diseases and sciences 44, 953-959, 1999 | 151 | 1999 |
| The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation C Thauvin-Robinet, JS Lee, E Lopez, V Herranz-Pérez, T Shida, B Franco, ... Nature genetics 46 (8), 905-911, 2014 | 146 | 2014 |
| The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy JB Courcet, L Faivre, P Malzac, A Masurel-Paulet, E Lopez, P Callier, ... Journal of medical genetics 49 (12), 731-736, 2012 | 140 | 2012 |
| Clinical consequences of rotavirus acute gastroenteritis in Europe, 2004–2005: the REVEAL study C Giaquinto, P Van Damme, F Huet, L Gothefors, M Maxwell, P Todd, ... The Journal of infectious diseases 195 (Supplement_1), S26-S35, 2007 | 139 | 2007 |
| The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening C Thauvin-Robinet, A Munck, F Huet, E Génin, G Bellis, E Gautier, ... Journal of medical genetics 46 (11), 752-758, 2009 | 135 | 2009 |
| In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome V Carmignac, J Thevenon, L Adès, B Callewaert, S Julia, ... The American Journal of Human Genetics 91 (5), 950-957, 2012 | 130 | 2012 |
| Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life J Thévenon, M Milh, F Feillet, J St-Onge, Y Duffourd, C Jugé, A Roubertie, ... The American Journal of Human Genetics 95 (1), 113-120, 2014 | 128 | 2014 |
| Delineation of 15q13. 3 microdeletions A Masurel‐Paulet, J Andrieux, P Callier, JM Cuisset, C Le Caignec, ... Clinical genetics 78 (2), 149-161, 2010 | 119 | 2010 |
| Pathophysiological study of sensitive skin V Buhé, K Vié, C Guéré, A Natalizio, C Lhéritier, C Le Gall-Ianotto, F Huet, ... Acta Derm Venereol 96 (3), 314-318, 2016 | 110 | 2016 |
| Efficacy and tolerance of infliximab in children and adolescents with Crohn’s disease T Lamireau, JP Cézard, A Dabadie, O Goulet, A Lachaux, D Turck, ... Inflammatory bowel diseases 10 (6), 745-750, 2004 | 105 | 2004 |
