Yuriko Yoneda

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome

N. Miyake, Y. Tsurusaki, Mitsuhiro Kato, 2012, Clinical genetics.

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

N. Matsumoto, K. Ogata, Y. Makita, 2012, Journal of Human Genetics.

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2012, Epilepsia.

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

K. Yokochi, H. Arai, N. Matsumoto, 2012, American journal of human genetics.

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

K. Yokochi, A. Kakita, H. Arai, 2013, Annals of neurology.

Paternal mosaicism of an STXBP1 mutation in OS

M. Kubota, N. Matsumoto, N. Miyake, 2011, Clinical Genetics.