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 · 228 citations · Full text

G Protein-coupled Receptor, Genetic Disorder, Genetics +8

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

Daniela A. Braun, Jia Rao, Géraldine Mollet et al. · Nature Genetics · 2017 · 212 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

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

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

Down Syndrome, Sotos Syndrome, Developmental Anomaly +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

Severe Course, Medical Imaging, Parenchymal Lesions +15