N. Simon Thomas

RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletions in primary ciliary dyskinesia

Abstract Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder affecting ~1:7500 individuals characterised by recurrent chronic respiratory infections, bronchiectasis, laterality defects, and infertility. While at least 60 PCD-causing genes are reported, approximately 30% o...