Juha Koskenvuo

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

Infant microbes and metabolites point to childhood neurodevelopmental disorders

Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

Expanding the phenotype of Timothy syndrome type 2: An adolescent with ventricular fibrillation but normal development