Takashi Shiihara

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Kazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita et al. · The American Journal of Human Genetics · 2013 · 239 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet et al. · Nature Genetics · 2017 · 221 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Expansion of the first PolyA tract of <i>ARX</i> causes infantile spasms and status dystonicus

Renzo Guerrini, Francesca Moro, Mitsuhiro Kato et al. · Neurology · 2007 · 147 citations

Life Sciences, Genetics, Molecular Genetics +13

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

Naohiro Kurotaki, Naoki Harada, Osamu Shimokawa et al. · Human Mutation · 2003 · 137 citations

Life Sciences, Genetics, Molecular Genetics +14

Widening spectrum of a reversible splenial lesion with transiently reduced diffusion.

Jun‐ichi Takanashi, A. James Barkovich, Takashi Shiihara et al. · PubMed · 2006 · 132 citations · Full text

Medicine, Neurology, Diagnostic Imaging +7