| Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase S Tuffery‐Giraud, C Béroud, F Leturcq, RB Yaou, D Hamroun, ... Human mutation 30 (6), 934-945, 2009 | 424 | 2009 |
| A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and … S Bione, C Sala, C Manzini, G Arrigo, O Zuffardi, S Banfi, G Borsani, ... The American Journal of Human Genetics 62 (3), 533-541, 1998 | 351 | 1998 |
| Key clinical features to identify girls with CDKL5 mutations N Bahi-Buisson, J Nectoux, H Rosas-Vargas, M Milh, N Boddaert, ... Brain 131 (10), 2647-2661, 2008 | 349 | 2008 |
| The UTX gene escapes X inactivation in mice and humans A Greenfield, L Carrel, D Pennisi, C Philippe, N Quaderi, P Siggers, ... Human molecular genetics 7 (4), 737-742, 1998 | 308 | 1998 |
| The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor α in acute promyelocytic-like leukaemia C Arnould, C Philippe, V Bourdon, MJ Grégoire, R Berger, P Jonveaux Human molecular genetics 8 (9), 1741-1749, 1999 | 306 | 1999 |
| European heart rhythm association (EHRA)/heart rhythm society (HRS)/Asia pacific heart rhythm society (APHRS)/latin American heart rhythm society (LAHRS) expert consensus … AAM Wilde, C Semsarian, MF Márquez, AS Shamloo, MJ Ackerman, ... Europace 24 (8), 1307-1367, 2022 | 299 | 2022 |
| Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy C Béroud, S Tuffery‐Giraud, M Matsuo, D Hamroun, V Humbertclaude, ... Human mutation 28 (2), 196-202, 2007 | 245 | 2007 |
| The three stages of epilepsy in patients with CDKL5 mutations N Bahi‐Buisson, A Kaminska, N Boddaert, M Rio, A Afenjar, M Gérard, ... Epilepsia 49 (6), 1027-1037, 2008 | 232 | 2008 |
| 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 | 185 | 2018 |
| Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21 C Sala, G Arrigo, G Torri, F Martinazzi, P Riva, L Larizza, C Philippe, ... Genomics 40 (1), 123-131, 1997 | 158 | 1997 |
| Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses C Philippe, DE Porter, ME Emerton, DE Wells, A Hamish, RW Simpson, ... The American Journal of Human Genetics 61 (3), 520-528, 1997 | 154 | 1997 |
| Cloning and characterization of the human choroideremia gene H Bokhoven, JAJM Hurk, L Bogerd, C Philippe, S Gilgenkrantz, P Jong, ... Human molecular genetics 3 (7), 1041-1046, 1994 | 151 | 1994 |
| 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 | 146 | 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 | 138 | 2014 |
| Mutational spectrum of CDKL5 in early‐onset encephalopathies: a study of a large collection of French patients and review of the literature C Nemos, L Lambert, F Giuliano, B Doray, A Roubertie, A Goldenberg, ... Clinical genetics 76 (4), 357-371, 2009 | 135 | 2009 |
| Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet … V Latger-Cannard, C Philippe, A Bouquet, V Baccini, MC Alessi, A Ankri, ... Orphanet journal of rare diseases 11, 1-15, 2016 | 120 | 2016 |
| Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females C Philippe, D Amsallem, C Francannet, L Lambert, A Saunier, F Verneau, ... Journal of medical genetics 47 (1), 59-65, 2010 | 116 | 2010 |
| Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions M Béri-Dexheimer, V Latger-Cannard, C Philippe, C Bonnet, P Chambon, ... European Journal of Human Genetics 16 (8), 1014-1018, 2008 | 114 | 2008 |
| Cohen syndrome is associated with major glycosylation defects L Duplomb, S Duvet, D Picot, G Jego, S El Chehadeh-Djebbar, N Marle, ... Human molecular genetics 23 (9), 2391-2399, 2014 | 106 | 2014 |
| A retrospective study by oligonucleotide array‐CGH analysis in 50 fetuses with multiple malformations M Valduga, C Philippe, P Bach Segura, O Thiebaugeorges, A Miton, ... Prenatal Diagnosis: Published in Affiliation With the International Society …, 2010 | 102 | 2010 |