Fumio Takada

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo et al. · The American Journal of Human Genetics · 2013 · 332 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

Terumi Murakami, Yukiko Hayashi, S. Noguchi et al. · Annals of Neurology · 2006 · 149 citations · Full text

Medicine, Genetics, Molecular Genetics +13

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

Molecular and clinical analysis of<i>RAF1</i>in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Tomoko Kobayashi, Yoko Aoki, Tetsuya Niihori et al. · Human Mutation · 2010 · 126 citations

Life Sciences, Genetics, Molecular Genetics +13

Mutations of the slow muscle α-tropomyosin gene, <i>TPM3</i> , are a rare cause of nemaline myopathy

Duangrurdee Wattanasirichaigoon, Kathryn J. Swoboda, Fumio Takada et al. · Neurology · 2002 · 85 citations

Medicine, Genetics, Molecular Genetics +10