European Journal of Human Genetics, Published online: 26 January 2026; doi:10.1038/s41431-025-01995-7
Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profilingEuropean Journal of Human Genetics, Published online: 26 January 2026; doi:10.1038/s41431-025-01995-7
Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling