John E. Spiro

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

SOX9 switch links regeneration to fibrosis at the single-cell level in mammalian kidneys

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication

Abnormal auditory and language pathways in children with 16p11.2 deletion