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
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
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
Fassad MR et al.
Journal of Medical Genetics, 2020
Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.
Paff T et al.
Human Mutation, 2018
Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.
Litchfield K et al.
Nature Communications, 2016
Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia.
Djakow J et al.
Pediatric Pulmonology, 2012
Select a paper to view details