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
38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia.
Lu W et al.
Journal of Assisted Reproduction and Genetics, 2024
Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review.
Mori M et al.
Journal of Clinical Medicine, 2022
Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.
Raidt J et al.
Annals of the American Thoracic Society, 2022
35202559 (PubMed )
Supplement: raidt_data_supplement.pdf
SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.
Cindrić S et al.
American Journal of Respiratory Cell and Molecular Biology, 2020
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