Publication
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia
Andrew Fleming, Miranda Galey, Lizi Briggs, Matthew Edwards, Claire Hogg, Shibu John, Sam Wilkinson, Ellie Quinn, Ranjit Rai, Tom Burgoyne, Andy Rogers, Mitali P. Patel, Paul Griffin, Steven Muller, Siobhan B. Carr, Michael R. Loebinger, Jane S. Lucas, Anand Shah, Ricardo Jose, Hannah M. Mitchison, Amelia Shoemark, Danny E. Miller, Deborah J. Morris-Rosendahl
European Journal of Human Genetics, April 2024, Springer Science + Business Media
DOI: 10.1038/s41431-024-01599-7