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
Modelling of primary ciliary dyskinesia using patient-derived airway organoids.
van der Vaart J et al.
Embo Reports, 2021
Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia.
Gileles-Hillel A et al.
Erj Open Research, 2020
33447612 (PubMed )
Supplement: 00213-2020.SUPPLEMENT.pdf
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1
Genetic basis of human left-right asymmetry disorders.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
Loges NT et al.
American Journal of Human Genetics, 2008
Select a paper to view details