Mitsuko Nakashima

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu et al. · Nature Genetics · 2013 · 474 citations

Life Sciences, Genetics, Neuroscience +10

Human genetic variation database, a reference database of genetic variations in the Japanese population

Koichiro Higasa, Noriko Miyake, Jun Yoshimura et al. · Journal of Human Genetics · 2016 · 303 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A SNP in the ABCC11 gene is the determinant of human earwax type

Koh-ichiro Yoshiura, Akira Kinoshita, Takafumi Ishida et al. · Nature Genetics · 2006 · 295 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

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

Clinical spectrum of early onset epileptic encephalopathies caused by <scp><i>KCNQ2</i></scp> mutation

Mitsuhiro Kato, Takanori Yamagata, Masaya Kubota et al. · Epilepsia · 2013 · 226 citations · Full text

Life Sciences, Genetics, Neurology +17