Tatsuya Kishino

UBE3A/E6-AP mutations cause Angelman syndrome

Tatsuya Kishino, Marc Lalande, Joseph Wagstaff · Nature Genetics · 1997 · 1.3K citations

Mendelian Disorder, Genetic Disorder, Angelman Syndrome +6

Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada et al. · Nature Genetics · 2002 · 655 citations

Clinical Disorders, Sotos Syndrome, Neurological Disorder +5

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama et al. · Nature Genetics · 2004 · 612 citations · Full text

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +4

ASC, a Novel 22-kDa Protein, Aggregates during Apoptosis of Human Promyelocytic Leukemia HL-60 Cells

Junya Masumoto, Shun’ichiro Taniguchi, Koichi Ayukawa et al. · Journal of Biological Chemistry · 1999 · 538 citations · Full text

Neurobehavioral and Electroencephalographic Abnormalities in Ube3aMaternal-Deficient Mice

Kiyonori Miura, Tatsuya Kishino, En Li et al. · Neurobiology of Disease · 2002 · 255 citations · Full text

Ube3amaternal-deficient Mice, Neurophysiology, Experimental Neuropathology +6