Nobuaki Wakamatsu

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

Nobuaki Wakamatsu, Yasukazu Yamada, Kenichiro Yamada et al. · Nature Genetics · 2001 · 337 citations

Life Sciences, Genetics, Molecular Genetics +6

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Robert Lyle, Frédérique Béna, Sarantis Gagos et al. · European Journal of Human Genetics · 2008 · 327 citations

Life Sciences, Genetics, Molecular Genetics +15

Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features

Kenichiro Yamada, Yasukazu Yamada, Noriko Nomura et al. · The American Journal of Human Genetics · 2001 · 100 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Two cases of partial trisomy 21 (pter‐q22.1) without the major features of Down syndrome

Yoko Kondo, Seiji Mizuno, Kei Ohara et al. · American Journal of Medical Genetics Part A · 2006 · 85 citations

Life Sciences, Genetics, Molecular Genetics +10

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion

Kenichiro Yamada, Kaori Aiba, Yasuyuki Kitaura et al. · Journal of Medical Genetics · 2015 · 74 citations

Life Sciences, Biochemistry, Molecular Biology +17