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
Two Japanese Pediatric Patients With Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in the CCNO gene.
Xu Y et al.
Cureus, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
38364701 (PubMed )
Supplement: mmc6.xlsx › Sheet1
The First Case of a Homozygous CCNO NM 021147.4 Mutation Associated With Primary Ciliary Dyskinesia in Two Indian Siblings.
Alhalabi O 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
39380637 (PubMed )
Supplement: Table1.pdf
Mutations in CCNO Result in Primary Ciliary Dyskinesia Complicated with Diffuse Bronchiolitis.
Wang LN et al.
Indian Journal of Pediatrics, 2023
Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China.
Li Y et al.
Bmc Pediatrics, 2022
Primary ciliary dyskinesia due to CCNO mutations-A genotype-phenotype correlation contribution.
Henriques AR et al.
Pediatric Pulmonology, 2021
Exome sequencing as the first-tier test for pediatric respiratory diseases: A single-center study.
Hao C et al.
Human Mutation, 2021
Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey.
Emiralioğlu N et al.
Pediatric Pulmonology, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
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