Mitsuru Ikeno

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

Modeling blood-brain barrier formation and cerebral cavernous malformations in human PSC-derived organoids

Epilepsy phenotypes in siblings with Norrie disease

De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum