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
Cyclin O controls entry into the cell-cycle variant required for multiciliated cell differentiation.
Khoury Damaa M et al.
Cell Reports, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt.
Rizk H et al.
Frontiers in Molecular Biosciences, 2025
Transcriptional regulation of CCNO during the formation of multiple motile cilia.
Wang L et al.
Biochemical and Biophysical Research Communications, 2024
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients.
Kamenarova K et al.
Scientific Reports, 2024
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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 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
[Primary ciliary dyskinesia caused by mutation of CCNO29 gene in a family report].
Sun XP et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024
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
Early genetic analysis by next-generation sequencing improves diagnosis of primary ciliary dyskinesia.
Petrarca L et al.
Pediatric Pulmonology, 2023
Mutations in CCNO Result in Primary Ciliary Dyskinesia Complicated with Diffuse Bronchiolitis.
Wang LN et al.
Indian Journal of Pediatrics, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
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
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
Shoemark A et al.
American Journal of Respiratory and Critical Care Medicine, 2017
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
Casey JP et al.
European Journal of Human Genetics : Ejhg, 2015
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
Wallmeier J et al.
Nature Genetics, 2014