Associated Papers
Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis.
Legebeke J et al.
Human Molecular Genetics, 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
38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review.
Shen C et al.
Frontiers in Genetics, 2024
Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia-Related Infertility in Three Chinese Families.
Wang L et al.
Frontiers in Genetics, 2022
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia.
Lee DDH et al.
The European Respiratory Journal, 2021
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.
Ziętkiewicz E et al.
Plos One, 2012
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
Leigh MW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
Castleman VH et al.
American Journal of Human Genetics, 2009
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