| Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia G Pennarun, E Escudier, C Chapelin, AM Bridoux, V Cacheux, G Roger, ... The American Journal of Human Genetics 65 (6), 1508-1519, 1999 | 475 | 1999 |
| Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency I Netchine, ML Sobrier, H Krude, D Schnabel, M Maghnie, E Marcos, ... Nature genetics 25 (2), 182-186, 2000 | 454 | 2000 |
| RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa A Moore, E Escudier, G Roger, A Tamalet, B Pelosse, S Marlin, A Clément, ... Journal of medical genetics 43 (4), 326-333, 2006 | 293 | 2006 |
| A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia B Duriez, P Duquesnoy, E Escudier, AM Bridoux, D Escalier, I Rayet, ... Proceedings of the National Academy of Sciences 104 (9), 3336-3341, 2007 | 237 | 2007 |
| Mutations of DNAI1 in Primary Ciliary Dyskinesia: Evidence of Founder Effect in a Common Mutation MA Zariwala, MW Leigh, F Ceppa, MP Kennedy, PG Noone, JL Carson, ... American journal of respiratory and critical care medicine 174 (8), 858-866, 2006 | 221 | 2006 |
| Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein. F Dastot, ML Sobrier, P Duquesnoy, B Duriez, M Goossens, S Amselem Proceedings of the National Academy of Sciences 93 (20), 10723-10728, 1996 | 182 | 1996 |
| A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH‐binding … P Duquesnoy, ML Sobrier, B Duriez, F Dastot, CR Buchanan, MO Savage, ... The EMBO journal 13 (6), 1386-1395, 1994 | 181 | 1994 |
| Expression and binding properties of two isoforms of the human growth hormone receptor ML Sobrier, P Duquesnoy, B Duriez, S Amselem, M Goossens FEBS letters 319 (1-2), 16-20, 1993 | 160 | 1993 |
| Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome S Amselem, P Duquesnoy, B Duriez, F Dastot, ML Sobrier, S Valleix, ... Human Molecular Genetics 2 (4), 355-359, 1993 | 120 | 1993 |
| Computer-assisted analysis helps detect inner dynein arm abnormalities E Escudier, M Couprie, B Duriez, F Roudot-Thoraval, MC Millepied, ... American journal of respiratory and critical care medicine 166 (9), 1257-1262, 2002 | 88 | 2002 |
| A naturally occurring growth hormone receptor mutation: in vivo and in vitro evidence for the functional importance of the WS motif common to all members of the cytokine … B Duriez, ML Sobrier, P Duquesnoy, M Tixier-Boichard, E Decuypere, ... Molecular endocrinology 7 (6), 806-814, 1993 | 83 | 1993 |
| Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment C Chapelin, B Duriez, F Magnino, M Goossens, E Escudier, S Amselem Febs Letters 412 (2), 325-330, 1997 | 78 | 1997 |
| The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia G Pennarun, C Chapelin, E Escudier, AM Bridoux, F Dastot, V Cacheux, ... Human genetics 107, 642-649, 2000 | 68 | 2000 |
| Molecular basis of inherited growth hormone resistance in childhood S Amselem, ML Sobrier, F Dastot, P Duquesnoy, B Duriez, M Goossens Baillière's clinical endocrinology and metabolism 10 (3), 353-369, 1996 | 58 | 1996 |
| Isolation and Expression of the Human hPF20 Gene Orthologous to Chlamydomonas pf20 Evaluation as a Candidate for Axonemal Defects of Respiratory Cilia … G Pennarun, AM Bridoux, E Escudier, F Dastot-Le Moal, V Cacheux, ... American journal of respiratory cell and molecular biology 26 (3), 362-370, 2002 | 57 | 2002 |
| A Heterozygous Mutation Disrupting the SPAG16 Gene Results in Biochemical Instability of Central Apparatus Components of the Human Sperm Axoneme Z Zhang, MA Zariwala, MM Mahadevan, P Caballero-Campo, X Shen, ... Biology of reproduction 77 (5), 864-871, 2007 | 55 | 2007 |
| Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4 N Bondurand, V Fouquet, V Baral, L Lecerf, N Loundon, M Goossens, ... European journal of human genetics 20 (9), 990-994, 2012 | 46 | 2012 |
| Replication dynamics of individual loci in single living cells reveal changes in the degree of replication stochasticity through S phase B Duriez, S Chilaka, JF Bercher, E Hercul, MN Prioleau Nucleic Acids Research 47 (10), 5155-5169, 2019 | 19 | 2019 |
| Clustering of strong replicators associated with active promoters is sufficient to establish an early‐replicating domain C Brossas, AL Valton, SV Venev, S Chilaka, A Counillon, M Laurent, ... The EMBO Journal 39 (21), e99520, 2020 | 10 | 2020 |
| Promoters are key organizers of the duplication of vertebrate genomes C Brossas, B Duriez, AL Valton, MN Prioleau BioEssays 43 (10), 2100141, 2021 | 6 | 2021 |
