Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations
Most Cited Paper
in Neonatal Respiratory Health Research
18 Months Post-Publication
Class of 2026
“Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations”
A research intelligence initiative by Pepkio
pri.pepkio.com/top-papers/neonatal-respiratory-health-research/2026/
Topics
primary ciliary dyskinesia · ERN-LUNG international PCD Registry · founder variants · pathognomonic ultrastructural defects · laterality defects · CCNO · CCDC39 · CCDC40 · DNAH11 · ODAD1 · FEV1 z-score · genotype-phenotype correlations · American College of Medical Genetics and Genomics guidelines · ciliary ultrastructure defects · genetic epidemiology
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Pepkio Research Index (PRI). Topics and Trends in Most Cited Neonatal Respiratory Health Research Papers, Class of 2026. https://pri.pepkio.com/top-papers/neonatal-respiratory-health-research/2026. Accessed 2026-07-22. Zheng Su, Tinsley Li, Thematic Shifts in Early-High-Impact Cancer Genomics and Diagnostics Research: A Bibliometric and Semantic Analysis. bioRxiv 2026.07.04.736459; doi: https://doi.org/10.64898/2026.07.04.736459