Jolanda Schieving

CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

Alanyl-tRNA synthetase, AARS1, is a lactate sensor and lactyltransferase that lactylates p53 and contributes to tumorigenesis

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Mutations in RARS cause hypomyelination