Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia

European Journal of Human Genetics, Published online: 11 April 2024; doi:10.1038/s41431-024-01599-7Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia

Source: European Journal of Human Genetics - April 11, 2024 Category: Genetics & Stem Cells Authors: 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 Source Type: research