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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Empowering limited-resource countries: collaborating with expert centers for diagnosis of primary ciliary dyskinesia.
Yuksel Kalyoncu M et al.
Frontiers in Molecular Biosciences, 2025
Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt.
Rizk H et al.
Frontiers in Molecular Biosciences, 2025
41078601 (PubMed )
Supplement: DataSheet1.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
Two Japanese Pediatric Patients With Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in the CCNO gene.
Xu Y et al.
Cureus, 2024
Case Report: Primary ciliary dyskinesia due to CCNO mutations: a Chinese pediatric case series and literature review.
Tong L et al.
Frontiers in Pediatrics, 2024
CCNO mutation as a cause of primary ciliary dyskinesia: A case report.
Zhang YY et al.
World Journal of Clinical Cases, 2022
Exome sequencing as the first-tier test for pediatric respiratory diseases: A single-center study.
Hao C et al.
Human Mutation, 2021
Generation of two hiPSC lines (MHHi016-A, MHHi016-B) from a primary ciliary dyskinesia patient carrying a homozygous 5 bp duplication (c.248_252dup (p.Gly85Cysfs*11)) in exon 1 of the CCNO gene.
Dahlmann J et al.
Stem Cell Research, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.
Amirav I et al.
Human Mutation, 2016
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
Wallmeier J et al.
Nature Genetics, 2014
Select a paper to view details