| Year |
Citation |
Score |
| 2015 |
Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Désir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, et al. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. American Journal of Human Genetics. 97: 153-62. PMID 26073779 DOI: 10.1016/J.Ajhg.2015.05.004 |
0.7 |
|
| 2013 |
Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, et al. Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. American Journal of Human Genetics. 93: 561-70. PMID 23993197 DOI: 10.1016/J.Ajhg.2013.07.013 |
0.709 |
|
| 2012 |
Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, et al. Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. American Journal of Human Genetics. 91: 958-64. PMID 23122589 DOI: 10.1016/J.Ajhg.2012.10.003 |
0.684 |
|
| 2012 |
Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, et al. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. Journal of Medical Genetics. 49: 410-6. PMID 22693285 DOI: 10.1186/2046-2530-1-S1-P91 |
0.686 |
|
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