Yuriko Yoneda

Phenotypic Spectrum of <i>COL4A1</i> Mutations: Porencephaly to Schizencephaly

Yuriko Yoneda, Kazuhiro Haginoya, Mitsuhiro Kato et al. · Annals of Neurology · 2012 · 171 citations

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

Yuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai et al. · The American Journal of Human Genetics · 2011 · 96 citations

Developmental Biology, Medicine, Cell Biology +3

<i>CASK</i> aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

Hirotomo Saitsu, Mitsuhiro Kato, Hitoshi Osaka et al. · Epilepsia · 2012 · 81 citations

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

Yuriko Yoneda, Hirotomo Saitsu, Mayumi Touyama et al. · Journal of Human Genetics · 2012 · 64 citations · Full text

Missense Mutations, Dna-binding/dimerization Domain, Mendelian Disorder +9

Paternal mosaicism of an STXBP1 mutation in OS

Hirotomo Saitsu, Hideki Hoshino, Mitsuhiro Kato et al. · Clinical Genetics · 2010 · 47 citations

Somatic Mosaic, Somatic Variant, Mendelian Disorder +13