Publications

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2020
Bustamante-Marin, X. M. et al. Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. J Hum Genet 65, 175-180 (2020).
Bustamante-Marin, X. M. et al. Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. PLoS Genet 16, e1008691 (2020).
2019
Bustamante-Marin, X. M. et al. Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. Am J Hum Genet 104, 229-245 (2019).
2014
Knowles, M. R. et al. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med 189, 707-17 (2014).