Esther Kott

Serge Amselem	grad student	2013	UPMC Univ Paris 6
(Physiopathologie des dyskinésies ciliaires primitives : approches moléculaires et cellulaires)
Estelle Escudier	grad student	2013	UPMC Univ Paris 6
(Physiopathologie des dyskinésies ciliaires primitives : approches moléculaires et cellulaires)

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Jeanson L, Copin B, Papon JF, et al. (2015) 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
Kott E, Legendre M, Copin B, et al. (2013) 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
Kott E, Duquesnoy P, Copin B, et al. (2012) 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
Blanchon S, Legendre M, Copin B, et al. (2012) Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. Journal of Medical Genetics. 49: 410-6