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
[Clinical and genetic analysis of a patient with FSIP2 compound heterozygous variants causing multiple morphological abnormalities of sperm flagella].
Chen YQ et al.
Zhonghua Nan Ke Xue = National Journal of Andrology, 2025
Genetics of 67 patients of suspected primary ciliary dyskinesia from India.
Jat KR et al.
Clinical Genetics, 2024
Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes.
Liu Z et al.
Genetic Testing and Molecular Biomarkers, 2024
38837151 (PubMed )
Supplement: sj-pdf-4-gtm-10.1089_gtmb.2023.0263.pdf
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 Compound Heterozygous Variants in CCDC40 Associated with Primary Ciliary Dyskinesia and Multiple Morphological Abnormalities of the Sperm Flagella.
Xu Y et al.
Pharmacogenomics and Personalized Medicine, 2022
CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia.
Liu L et al.
Medicine, 2021
Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
Baz-Redón N et al.
Archivos De Bronconeumologia, 2021
Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.
Baz-Redón N et al.
Journal of Clinical Medicine, 2020
33182294 (PubMed )
Supplement: jcm-09-03603-s001.pdf
A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies.
Liu Z et al.
Science Translational Medicine, 2020
32188719 (PubMed )
Supplement: aay0071_data_file_s1.xlsx › PCD
CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.
Sui W et al.
The Clinical Respiratory Journal, 2016
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.
Watson CM et al.
Human Mutation, 2014
24307375 (PubMed )
Supplement: humu0035-0434-SD1.pdf
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Antony D et al.
Human Mutation, 2013
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