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
Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice.
Nöthe-Menchen T et al.
Circulation. Genomic and Precision Medicine, 2019
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
Failly M et al.
Journal of Medical Genetics, 2009
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
Hornef N et al.
American Journal of Respiratory and Critical Care Medicine, 2006
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