Isabel Spier

Fibroblast and myofibroblast activation in normal tissue repair and fibrosis

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

Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

Deep intronicAPCmutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis