# Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations

*PRI Rank #10 · Topics and Trends in Most Cited Neonatal Respiratory Health Research Papers, Class of 2026*

*Canonical URL: https://pri.pepkio.com/top-papers/neonatal-respiratory-health-research/2026/rank-10*

| Field | Value |
| --- | --- |
| Rank | #10 |
| 18m citations | 43 |
| Journal | European Respiratory Journal |
| Year | 2024 |
| DOI | 10.1183/13993003.01769-2023 |
| Corresponding authors | Johanna Raidt |
| Institution | University Hospital Muenster, Germany |

**Ranking page:** [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)

**Paper link:** [10.1183/13993003.01769-2023](https://doi.org/10.1183/13993003.01769-2023)

## 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

## Cite this ranking

```
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
```