Associated Papers
Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.
Kondratyeva EI et al.
International Journal of Molecular Sciences, 2025
41373829 (PubMed )
Supplement: ijms-26-11674-s001.zip › ijms-4008327-supplementary.pdf
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
38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Shoemark A et al.
The European Respiratory Journal, 2022
Whole-genome Sequencing Reveals a Novel Structural Variant of CCDC39 in a Term Neonate with Primary Ciliary Dyskinesia.
Shin JH et al.
Annals of Laboratory Medicine, 2022
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.
Mabrouk I et al.
Journal of Human Genetics, 2022
Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia.
Pifferi M et al.
Annals of the American Thoracic Society, 2021
33760720 (PubMed )
Supplement: pifferi_data_supplement.pdf
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