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Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.
Black HA, de Proce SM, Campos JL, Meynert A, Halachev M, Marsh JA, Hirst RA, O'Callaghan C, Shoemark A, Toddie-Moore D; Scottish Genomes Partnership; Santoyo-Lopez J, Murray J, Macleod K, Urquhart DS, Unger S, Aitman TJ, Mill P. Black HA, et al. Pediatr Pulmonol. 2024 Dec;59(12):3322-3332. doi: 10.1002/ppul.27200. Epub 2024 Aug 8. Pediatr Pulmonol. 2024. PMID: 39115449 Free PMC article.