Barbara Utermann

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

Aging and aging-related diseases: from molecular mechanisms to interventions and treatments

Pre‐ and postnatal findings in trisomy 17 mosaicism

Intronic mutations in theL1CAMgene may cause X-linked hydrocephalus by aberrant splicing