Tsutomu Yamanaka

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

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

Tetsuya Niihori, Yoko Aoki, Hirofumi Ohashi et al. · Journal of Human Genetics · 2005 · 132 citations

Life Sciences, Genetics, Molecular Biology +7

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

Enhancement of S-100β protein in blood of patients with down’s syndrome

Kanefusa Kato, Fujiko Suzuki, Naomi Kurobe et al. · Journal of Molecular Neuroscience · 1990 · 39 citations

Life Sciences, Molecular Biology, Pathology +12

Williams syndrome and deficiency in visuospatial recognition

Miho Nakamura, Kazuyoshi Watanabe, Akiko Matsumoto et al. · Developmental Medicine & Child Neurology · 2001 · 31 citations

Social Sciences, Pediatrics, Psychology +17