Cordula Steglich

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

Possibilities and limitations of antisense oligonucleotide therapies for the treatment of monogenic disorders

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

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)