Associated Papers
Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.
Briggs L et al.
American Journal of Respiratory and Critical Care Medicine, 2025
40758541 (PubMed )
Supplement: briggs_data_supplement.pdf
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.
Fleming A et al.
European Journal of Human Genetics : Ejhg, 2024
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
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