Associated Papers
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Uguen K et al.
Nature Communications, 2026
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Dias KR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Select a paper to view details