Associated Papers
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.
The European Respiratory Journal, 2024
Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings.
Oh J et al.
Yonsei Medical Journal, 2024
38154480 (PubMed )
Supplement: ymj-65-48-s001.pdf
Xenopus to the rescue: A model to validate and characterize candidate ciliopathy genes.
Rao VG et al.
Genesis (new York, N.y. : 2000), 2021
Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia.
Gileles-Hillel A et al.
Erj Open Research, 2020
33447612 (PubMed )
Supplement: 00213-2020.SUPPLEMENT.pdf
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.
Boon M et al.
Nature Communications, 2014
Multicilin drives centriole biogenesis via E2f proteins.
Ma L et al.
Genes & Development, 2014
Select a paper to view details