Takako Ohata

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 · 122 citations

Genetics, Pathology, Disease Gene Identification +16

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

Daniel Greene, Daniela Pirri, Karen Frudd et al. · Nature Medicine · 2023 · 73 citations · Full text

Physicians' opinion for ‘new’ genetic testing in Japan

Takako Ohata, Atsushi Tsuchiya, Maiko Noguchi‐Watanabe et al. · Journal of Human Genetics · 2009 · 32 citations · Full text

Genetic Testing, Prenatal Genetic Testing, Prenatal Genetic Screening +6

<i>FBN2</i>, <i>FBN1</i>, <i>TGFBR1</i>, and <i>TGFBR2</i> analyses in congenital contractural arachnodactyly

Akira Nishimura, Haruya Sakai, Shiro Ikegawa et al. · American Journal of Medical Genetics Part A · 2007 · 31 citations

Genetics, Pathology, Disease Gene Identification +16

A −16C&gt;T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

Takako Ohata, Kunihiro Yoshida, Haruya Sakai et al. · Journal of Human Genetics · 2006 · 29 citations · Full text

Developmental Biology, Molecular Neuroscience, T Substitution +9