- Dysfunction of the cationic amino acid transporter SLC7A1 causes autosomal recessive spastic cerebral palsy & hereditary spastic paraplegia
- Generating and sharing valuable rare disease data via the GREGoR Consortium
- BiallelicUGGT1gene variants cause a congenital disorder of glycosylation:
- Driver project for advancing long-read de novo genome assembly methods in clinical research
- Biallelic FLVCR1 variants cause a disease spectrum from adult neurodegeneration to severe neurodevelopmental disorders through disrupted choline transport
