| European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia JS Lucas, A Barbato, SA Collins, M Goutaki, L Behan, D Caudri, S Dell, ... European Respiratory Journal 49 (1), 2017 | 621 | 2017 |
| European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia JS Lucas, A Barbato, SA Collins, M Goutaki, L Behan, D Caudri, S Dell, ... European Respiratory Journal 49 (1), 2017 | 621 | 2017 |
| Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature J Pantel, M Legendre, S Cabrol, L Hilal, Y Hajaji, S Morisset, S Nivot, ... The Journal of clinical investigation 116 (3), 760-768, 2006 | 429 | 2006 |
| CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs AC Merveille, EE Davis, A Becker-Heck, M Legendre, I Amirav, G Bataille, ... Nature genetics 43 (1), 72-78, 2011 | 366 | 2011 |
| Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia E Kott, P Duquesnoy, B Copin, M Legendre, F Dastot-Le Moal, ... The American Journal of Human Genetics 91 (5), 958-964, 2012 | 190 | 2012 |
| Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia P Duquesnoy, E Escudier, L Vincensini, J Freshour, AM Bridoux, A Coste, ... The American Journal of Human Genetics 85 (6), 890-896, 2009 | 179 | 2009 |
| Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects E Kott, M Legendre, B Copin, JF Papon, F Dastot-Le Moal, G Montantin, ... The American Journal of Human Genetics 93 (3), 561-570, 2013 | 172 | 2013 |
| Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling A Lepelley, MJ Martin-Niclos, M Le Bihan, JA Marsh, C Uggenti, GI Rice, ... Journal of Experimental Medicine 217 (11), 2020 | 149 | 2020 |
| X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 C Olcese, MP Patel, A Shoemark, S Kiviluoto, M Legendre, HJ Williams, ... Nature communications 8, 14279, 2017 | 144 | 2017 |
| Mutations in DNAH17, encoding a sperm-specific axonemal outer dynein arm heavy chain, cause isolated male infertility due to asthenozoospermia M Whitfield, L Thomas, E Bequignon, A Schmitt, L Stouvenel, G Montantin, ... The American Journal of Human Genetics 105 (1), 198-212, 2019 | 138 | 2019 |
| Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer N Nathan, V Giraud, C Picard, H Nunes, F Dastot-Le Moal, B Copin, ... Human molecular genetics 25 (8), 1457-1467, 2016 | 137 | 2016 |
| The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever D Tchernitchko, M Legendre, C Cazeneuve, A Delahaye, F Niel, ... Human mutation 22 (4), 339-340, 2003 | 134 | 2003 |
| Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association GJ Vanaken, L Bassinet, M Boon, R Mani, I Honoré, JF Papon, ... European Respiratory Journal 50 (5), 1700314, 2017 | 121 | 2017 |
| Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia S Blanchon, M Legendre, B Copin, P Duquesnoy, G Montantin, E Kott, ... Journal of medical genetics 49 (6), 410-416, 2012 | 108 | 2012 |
| Mutations in outer dynein arm heavy chain DNAH9 cause motile cilia defects and situs inversus MR Fassad, A Shoemark, M Legendre, RA Hirst, F Koll, P le Borgne, ... The American Journal of Human Genetics 103 (6), 984-994, 2018 | 105 | 2018 |
| Mutations in outer dynein arm heavy chain DNAH9 cause motile cilia defects and situs inversus MR Fassad, A Shoemark, M Legendre, RA Hirst, F Koll, P le Borgne, ... The American Journal of Human Genetics 103 (6), 984-994, 2018 | 105 | 2018 |
| TCGAP, a multidomain Rho GTPase‐activating protein involved in insulin‐stimulated glucose transport SH Chiang, J Hwang, M Legendre, M Zhang, A Kimura, AR Saltiel The EMBO journal 22 (11), 2679-2691, 2003 | 101 | 2003 |
| Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor J Pantel, M Legendre, S Nivot, S Morisset, MP Vie-Luton, Y le Bouc, ... The Journal of Clinical Endocrinology & Metabolism 94 (11), 4334-4341, 2009 | 99 | 2009 |
| Mutations in DNAJB13, encoding an HSP40 family member, cause primary ciliary dyskinesia and male infertility E El Khouri, L Thomas, L Jeanson, E Bequignon, B Vallette, P Duquesnoy, ... The American Journal of Human Genetics 99 (2), 489-500, 2016 | 97 | 2016 |
| RSPH3 mutations cause primary ciliary dyskinesia with central-complex defects and a near absence of radial spokes L Jeanson, B Copin, JF Papon, F Dastot-Le Moal, P Duquesnoy, ... The American Journal of Human Genetics 97 (1), 153-162, 2015 | 91 | 2015 |
