Takeshi Mizuguchi

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama et al. · Nature Genetics · 2004 · 616 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

Hirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi et al. · Nature Genetics · 2008 · 549 citations

Medicine, Genetics, Molecular Genetics +12

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi et al. · Nature Genetics · 2012 · 522 citations

Life Sciences, Genetics, Molecular Genetics +7

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Jun Sone, Satomi Mitsuhashi, Atsushi Fujita et al. · Nature Genetics · 2019 · 509 citations

Life Sciences, Molecular Genetics, Neuroscience +14

Cohesin-dependent globules and heterochromatin shape 3D genome architecture in S. pombe

Takeshi Mizuguchi, Geoffrey Fudenberg, Sameet Mehta et al. · Nature · 2014 · 309 citations · Full text

Life Sciences, Genetics, Molecular Biology +15