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
Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis.
Schramm A et al.
Frontiers in Molecular Biosciences, 2023
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
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
A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling.
Namavarian A et al.
Molecular Genetics & Genomic Medicine, 2020
Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients.
Zhu D et al.
Bioscience Reports, 2019
The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.
Kim RH et al.
Annals of the American Thoracic Society, 2014
Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD.
Lucas JS et al.
Human Mutation, 2012
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